Basal Ganglia Diseases
The use of atypical antipsychotics in the management of schizophrenia. (1/321)
Long-term drug treatment of schizophrenia with conventional antipsychotics has limitations: an estimated quarter to one third of patients are treatment-resistant; conventional antipsychotics have only a modest impact upon negative symptoms (poverty of thought, social withdrawal and loss of affect); and adverse effects, particularly extrapyramidal symptoms (EPS). Newer, so-called atypical, antipsychotics such as olanzapine, risperidone, sertindole and clozapine (an old drug which was re-introduced in 1990) are claimed to address these limitations. Atypical agents are, at a minimum, at least as effective as conventional drugs such as haloperidol. They also cause substantially fewer extrapyramidal symptoms. However, some other adverse effects are more common than with conventional drugs. For example, clozapine carries a significant risk of serious blood disorders, for which special monitoring is mandatory; it also causes troublesome drowsiness and increased salivation more often than conventional agents. Some atypical agents cause more weight gain or QT prolongation than older agents. The choice of therapy is, therefore, not straightforward. At present, atypical agents represent an advance for patients with severe or intolerable EPS. Most published evidence exists to support the use of clozapine, which has also been shown to be effective in schizophrenia refractory to conventional agents. However, the need for compliance with blood count monitoring and its sedative properties make careful patient selection important. The extent of any additional direct benefit offered by atypical agents on negative symptoms is not yet clear. The lack of a depot formulation for atypical drugs may pose a significant practical problem. To date, only two double-blind studies in which atypical agents were compared directly have been published. Neither provides compelling evidence for the choice of one agent over another. Atypical agents are many times more expensive than conventional drugs. Although drug treatment constitutes only a small proportion of the costs of managing schizophrenia, the additional annual cost of the use of atypical agents in, say, a quarter of the likely U.K. schizophrenic population would be about 56 M pound sterling. There is only limited evidence of cost-effectiveness. Atypical antipsychotics are not currently licensed for other conditions where conventional antipsychotics are commonly used, such as behaviour disturbance or dementia in the elderly. Their dose, and place in treatment in such cases have yet to be determined. (+info)Bilateral basal ganglial necrosis after allogeneic bone marrow transplantation in a child with Kostmann syndrome. (2/321)
A 6-year-old girl underwent allogeneic BMT from a matched sibling donor for the treatment of Kostmann syndrome. She suddenly became drowsy on day 30 after BMT, and lost consciousness 2 days later. Cranial CT scan showed symmetrical lesions suggesting bilateral necrosis in the basal ganglia. Clinical and laboratory investigations failed to reveal any evidence of neurometabolic disease. (+info)Non-typhoid Salmonella meningitis complicated by a infarction of basal ganglia. (3/321)
A previously healthy 16-month-old Korean girl with symptoms of fever, vomiting, and generalized tonic seizure was diagnosed to have Group D non-typhoid Salmonella meningitis. The patient was treated with ceftriaxone (100 mg/kg/day) and amikin (22.5 mg/kg/day) initially and ciprofloxacin (30 mg/kg/day) was added later because of clinical deterioration and disseminated intravascular coagulation. Brain CT performed on the second day showed a well-demarcated low density lesion in the right lentiform nucleus and both caudate nuclei, without evidence of increased intracranial pressure. MRI performed on the 11th day confirmed CT scan findings as well as right subdural fluid collection, brain atrophy, and ventriculomegaly. She underwent subdural drainage and later ventriculo-peritoneal shunt operation. Despite receiving intensive treatment, she still has severe neurologic sequelae. Our case shows that infarctions of basal ganglia and thalami are not specific for tuberculous meningitis and that meningitis complicated by infarction is indicative of grave prognosis. (+info)Identification of a locus on chromosome 14q for idiopathic basal ganglia calcification (Fahr disease). (4/321)
Idiopathic basal ganglia calcification (IBGC) is a neurodegenerative syndrome that is associated with a variety of movement disorders and neurobehavioral and cognitive manifestations. Despite numerous clinical, pathological, and biochemical investigations, its etiology remains unknown. We have identified a multigenerational family with dominantly inherited IBGC and, in 24 members of this family, performed a whole-genome scan using polymorphic microsatellite markers to identify the first chromosomal locus for this disorder (IBGC1). A maximum two-point LOD score of 3.37 was obtained at marker D14S1014, and a maximum multipoint LOD score of 4.95 was obtained between D14S75 and D14S306. The minimal haplotype shared by affected patients extended over a 17.1-cM region bounded by D14S70 and D14S66, which is potentially further narrowed to a 13.3-cM region by a recombination observed in a patient with probable affected status. The age at onset appeared to be decreasing by an average of >20 years with each transmission, which is consistent with genetic anticipation. (+info)Dyspraxia in a patient with corticobasal degeneration: the role of visual and tactile inputs to action. (5/321)
OBJECTIVES: To investigate the roles of visual and tactile information in a dyspraxic patient with corticobasal degeneration (CBD) who showed dramatic facilitation in miming the use of a tool or object when he was given a tool to manipulate; and to study the nature of the praxic and neuropsychological deficits in CBD. METHODS: The subject had clinically diagnosed CBD, and exhibited alien limb behaviour and striking ideomotor dyspraxia. General neuropsychological evaluation focused on constructional and visuospatial abilities, calculation, verbal fluency, episodic and semantic memory, plus spelling and writing because impairments in this domain were presenting complaints. Four experiments assessed the roles of visual and tactile information in the facilitation of motor performance by tools. Experiment 1 evaluated the patient's performance of six limb transitive actions under six conditions: (1) after he described the relevant tool from memory, (2) after he was shown a line drawing of the tool, (3) after he was shown a real exemplar of the tool, (4) after he watched the experimenter perform the action, (5) while he was holding the tool, and (6) immediately after he had performed the action with the tool but with the tool removed from his grasp. Experiment 2 evaluated the use of the same six tools when the patient had tactile but no visual information (while he was blindfolded). Experiments 3 and 4 assessed performance of actions appropriate to the same six tools when the patient had either neutral or inappropriate tactile feedback-that is, while he was holding a non-tool object or a different tool. RESULTS: Miming of tool use was not facilitated by visual input; moreover, lack of visual information in the blindfolded condition did not reduce performance. The principal positive finding was a dramatic facilitation of the patient's ability to demonstrate object use when he was holding either the appropriate tool or a neutral object. Tools inappropriate to the requested action produced involuntary performance of the stimulus relevant action. CONCLUSIONS: Tactile stimulation was paramount in the facilitation of motor performance in tool use by this patient with CBD. This outcome suggests that tactile information should be included in models which hypothesise modality specific inputs to the action production system. Significant impairments in spelling and letter production that have not previously been reported in CBD have also been documented. (+info)Progressive frontal gait disturbance with atypical Alzheimer's disease and corticobasal degeneration. (6/321)
OBJECTIVES: The clinical neuropsychological, neuroradiological, and neuropathological description of two patients presenting with a frontal gait disturbance. METHODS: Clinical case note review, neuropsychological assessment, functional imaging with (15)O(2) and (18)F-fluorodopa PET, and neuropathology. RESULTS: Both patients presented with frontal gait impairment and only later developed more widespread cognitive impairment. In both cases (15)O(2) PET disclosed focal hypometabolism in the medial frontal lobes and in one patient (18)F-fluorodopa uptake into the caudate and putamen was normal. The neuropathological examination in one patient showed Alzheimer's histopathology together with large swollen eosinophilic neurons characteristic of corticobasal degeneration, which were particularly prominent in the medial frontal lobes. CONCLUSION: Focal degeneration of the medial frontal lobes may present as an isolated gait disturbance and should be considered in the differential diagnosis of patients who present without an obvious structural abnormality on neuroimaging. (+info)Extrapyramidal type rigidity in rheumatoid arthritis. (7/321)
OBJECTIVES: We had noted cogwheel rigidity in a number of patients with rheumatoid arthritis (RA). Based on this finding, we aimed to investigate formally the presence of rigidity and cogwheeling in RA patients. Our secondary aim was to survey the co-existence of RA and Parkinson's disease (PD). METHODS: A total of 87 consecutive patients with a diagnosis of RA, 78 patients with PD and 67 otherwise healthy patients attending a dedicated headache clinic participated in the study. RESULTS: Rigidity was observed in 24% of RA, 60% of PD and 2% of headache patients. The frequency among the RA patients was significantly higher compared to that of patients with headache (chi 2 = 15.2; P = 0.00009). The frequency of PD among the RA patients was 2/87 (2.3%), while the frequency of RA among the PD patients was 6/78 (7.7%). CONCLUSION: Rigidity can be observed in approximately a quarter of patients with RA. (+info)Enhanced association of mutant triosephosphate isomerase to red cell membranes and to brain microtubules. (8/321)
In a Hungarian family with triosephosphate isomerase (TPI; D-glyceraldehyde-3-phosphate keto-isomerase, EC 5.3.1.1) deficiency, two germ-line identical, but phenotypically differing compound heterozygote brothers (one of them with neurological disorder) have been identified with the same very low (<5%) TPI activity and 20- or 40-fold higher erythrocyte dihydroxyacetone phosphate levels as compared with normal controls. Our present studies with purified TPI and hemolysates revealed the binding of TPI, and the binding of human wild-type and mutant TPIs in hemolysate, to the red cell membrane, and the interference of binding with other hemolysate proteins. The binding of the mutant TPI is enhanced as compared with the wild-type enzyme. The increased binding is influenced by both the altered structure of the mutant and the changes in the red cell membrane. Compared with binding of glyceraldehyde-3-phosphate dehydrogenase, the isomerase binding is much less sensitive to ionic strength or blocking of the N-terminal tail of the band-3 transmembrane protein. The binding of TPIs to the membrane decreases the isomerase activity, resulting in extremely high dihydroxyacetone phosphate levels in deficient cells. In cell-free brain extract, tubulin copolymerizes with TPI and with other cytosolic proteins forming highly decorated microtubules as shown by immunoblot analysis with anti-TPI antibody and by electron microscopic images. The efficacy order of TPI binding to microtubules is propositus > brother without neurological disorder > normal control. This distinct microcompartmentation of mutant proteins may be relevant in the development of the neurodegenerative process in TPI deficiency and in other, more common neurological diseases. (+info)Basal ganglia diseases are a group of neurological disorders that affect the function of the basal ganglia, which are clusters of nerve cells located deep within the brain. The basal ganglia play a crucial role in controlling movement and coordination. When they are damaged or degenerate, it can result in various motor symptoms such as tremors, rigidity, bradykinesia (slowness of movement), and difficulty with balance and walking.
Some examples of basal ganglia diseases include:
1. Parkinson's disease - a progressive disorder that affects movement due to the death of dopamine-producing cells in the basal ganglia.
2. Huntington's disease - an inherited neurodegenerative disorder that causes uncontrolled movements, emotional problems, and cognitive decline.
3. Dystonia - a movement disorder characterized by sustained or intermittent muscle contractions that cause twisting and repetitive movements or abnormal postures.
4. Wilson's disease - a rare genetic disorder that causes excessive copper accumulation in the liver and brain, leading to neurological and psychiatric symptoms.
5. Progressive supranuclear palsy (PSP) - a rare brain disorder that affects movement, gait, and balance, as well as speech and swallowing.
6. Corticobasal degeneration (CBD) - a rare neurological disorder characterized by progressive loss of nerve cells in the cerebral cortex and basal ganglia, leading to stiffness, rigidity, and difficulty with movement and coordination.
Treatment for basal ganglia diseases varies depending on the specific diagnosis and symptoms but may include medication, surgery, physical therapy, or a combination of these approaches.
The basal ganglia are a group of interconnected nuclei, or clusters of neurons, located in the base of the brain. They play a crucial role in regulating motor function, cognition, and emotion. The main components of the basal ganglia include the striatum (made up of the caudate nucleus, putamen, and ventral striatum), globus pallidus (divided into external and internal segments), subthalamic nucleus, and substantia nigra (with its pars compacta and pars reticulata).
The basal ganglia receive input from various regions of the cerebral cortex and other brain areas. They process this information and send output back to the thalamus and cortex, helping to modulate and coordinate movement. The basal ganglia also contribute to higher cognitive functions such as learning, decision-making, and habit formation. Dysfunction in the basal ganglia can lead to neurological disorders like Parkinson's disease, Huntington's disease, and dystonia.
Basal ganglia disease
Biotin-thiamine-responsive basal ganglia disease
Cortico-basal ganglia-thalamo-cortical loop
Transketolase
Hyperkinesia
Lisa Gunaydin
Athymhormic syndrome
Derek Denny-Brown
Athymhormia
Foetal brain cell graft
Caudate nucleus
Movement disorder
Thiamine transporter 2
Hemiballismus
John Walsh (American scientist)
Accent perception
2001 in science
Adenosine A2A receptor
Major facilitator superfamily
Huntington's disease
Manganism
Nutritional neuroscience
Subcortical dementia
Ferritin light chain
Muscarinic acetylcholine receptor M3
Corticobasal degeneration
Neural circuit
Single-unit recording
Motor skill consolidation
Primate basal ganglia
Basal ganglia disease - Wikipedia
Biotin-thiamine-responsive basal ganglia disease: MedlinePlus Genetics
Metabolites | Free Full-Text | Human Brain Lipidomics: Pilot Analysis of the Basal Ganglia Sphingolipidome in Parkinson’s...
Basal ganglia calcification, idiopathic, childhood-onset - Getting a Diagnosis - Genetic and Rare Diseases Information Center
CRCNS: Propagation of beta oscillations in cortico-basal ganglia-thalamic loop - JPND Neurodegenerative Disease Research
Basal Ganglia in Huntingtons Disease | Calgary Guide
ICD-10-CM Diagnosis Code G23.8 - Other specified degenerative diseases of basal ganglia
Basal ganglia oscillations as biomarkers for targeting circuit dysfunction in Parkinson's disease<...
Combined assessment of diffusion parameters and cerebral blood flow within basal ganglia in early Parkinson's disease
Top 10 Rare Diseases | HowStuffWorks
Article By Diseases | Bentham Science
Magnetic Resonance Imaging-Visible Perivascular Spaces in Basal Ganglia Predict Cognitive Decline in Parkinson's Disease -...
Unusual clinical presentations of cortical-basal ganglionic degeneration
Acute bilateral basal ganglia lesion: Lentiform fork sign in end stage renal disease with metabolic acidosis | Journal...
Bilateral functional connectivity of the basal ganglia in patients with Parkinson's disease and its modulation by dopaminergic...
Table A2 - Human Prion Disease and Relative Risk Associated with Chronic Wasting Disease - Volume 12, Number 10-October 2006 -...
Heavy Metal Toxicity: Practice Essentials, Pathophysiology, Epidemiology
Dr J.E. Visser (Jasper) | Radboud University
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Reduced habit-driven errors in Parkinson's Disease | Scientific Reports
Frontiers | Complex network measures reveal optimal targets for deep brain stimulation and identify clusters of collective...
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Major Research Areas | College of Graduate Studies | SUNY Upstate
Deep Brain Stimulation for Gait and Postural Disturbances in Parkinson's Disease | SpringerLink
Seminar Series - Dornsife Neurobiology
Frontiers | Long-Lasting Desynchronization of Plastic Neuronal Networks by Double-Random Coordinated Reset Stimulation
Neurotree - Bar-Ilan University - Affiliated Researchers
Parkinson's vs Huntington's: Differences and similarities
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Seminars in Pediatric Neurology
Role of the basal ganglia1
- The primary role of the basal ganglia is to coordinate movement so that it is smooth [3] . (physio-pedia.com)
Function of the basal ganglia2
- It was once believed that the primary function of the basal ganglia was to integrate projections from the cerebral cortex, and project information via the thalamus to the motor cortex. (wikipedia.org)
- The presence of cognitive slowing has been tested not only to clarify this aspect of PD itself but also to understand the function of the basal ganglia. (jneurosci.org)
Human basal ganglia2
- This study is a detailed, quantitative, autoradiographical examination of the densities of histamine H-3-receptors in coronal sections of human basal ganglia, using the selective ligand [H-3]-(R)-alpha-methylhistamine. (ncl.ac.uk)
- 15. The functional connectivity of intralaminar thalamic nuclei in the human basal ganglia. (nih.gov)
Bilateral basal ganglia6
- To correlate clinical, radiological, and biochemical features with genetic findings in children with bilateral basal ganglia lesions of unknown aetiology, and propose a diagnostic algorithm for early recognition. (uab.cat)
- abstract = "AIMTo correlate clinical, radiological, and biochemical features with genetic findings in children with bilateral basal ganglia lesions of unknown aetiology, and propose a diagnostic algorithm for early recognition.METHODChildren with basal ganglia disease were recruited in a 2-year prospective multicentre study for clinical, biomarker, and genetic studies. (uab.cat)
- Bilateral basal ganglia hemorrhage is rare due to trauma. (biomedcentral.com)
- The brain computed tomography scan reported bilateral basal ganglia hemorrhage. (biomedcentral.com)
- Through the medical interventions, bilateral basal ganglia hemorrhage was discovered incidentally. (biomedcentral.com)
- In this case study, we will report bilateral basal ganglia hemorrhage in a 14-year-old boy who tested positive for COVID-19 and denied any past medical history or anticoagulant consumption. (biomedcentral.com)
Degenerative diseases1
- That 2-fold increased risk includes BG&C diseases such as secondary parkinsonism, other degenerative diseases of the basal ganglia, and essential tremor. (parkinson.org)
Neurons11
- Research indicates that increased output of the basal ganglia inhibits thalamocortical projection neurons. (wikipedia.org)
- If something causes too much basal ganglia output, then the ventral anterior (VA) and ventral lateral (VL) thalamocortical projection neurons become too inhibited, and one cannot initiate voluntary movement. (wikipedia.org)
- However, a disorder leading to abnormally low output of the basal ganglia leads to reduced inhibition, and thus excitation, of the thalamocortical projection neurons (VA and VL) which synapse onto the cortex. (wikipedia.org)
- Through this pathway the basal ganglia is able to initiate voluntary movements by disinhibiting thalamic neurons that drive upper motor neurons. (wikipedia.org)
- Proper striatal dopamine release is integral in the suppression of the basal ganglia output, which is needed for increased activity of the thalamic neurons. (wikipedia.org)
- This inhibitory effect of dopamine on the indirect pathway serves the same function as its excitatory effects in the direct pathway in that it reduces basal ganglia output, leading to the disinhibition of motor neurons. (wikipedia.org)
- This is generally attributed to higher than normal basal ganglia output causing inhibition of thalamocortical motor neurons. (wikipedia.org)
- Patterns of loss of dopamine-containing neurons in Parkinson''s disease. (medscape.com)
- Adults with attention-deficit hyperactivity disorder (ADHD) have been shown to have damaged dopamine neurons in the basil ganglia, and, commonly have cerebellar abnormalities, much like people with Parkinson's disease (PD). (parkinson.org)
- Many of the symptoms of Parkinson's disease are brought on by loss of or damage to dopamine neurons in this region, which encompasses the striatum, the subthalamic nucleus, and the substantia nigra. (michaeljfox.org)
- This corticofugal activity controls subcortical centers and is fed back to the cortex via the basal ganglia output nuclei through the GABAergic control of thalamocortical (TC) neurons (the basal ganglia-thalamus loop). (jneurosci.org)
Parkinson's disease and Huntington's3
- Parkinson's disease and Huntington's disease are progressive neurodegenerative disorders of the basal ganglia and its connections that profoundly impact motor, cognitive, and psychiatric functions of affected individuals. (mhmedical.com)
- H-3]-(R)-alpha-methylhistamine binding was also examined in both Parkinson's disease and Huntington's disease. (ncl.ac.uk)
- Abnormalities in this area of the brain can result in a variety of diseases, including Parkinson's disease and Huntington's disease. (pharmacology2000.com)
Neurodegeneration2
- One possible factor could be the natural accumulation of iron in the basal ganglia, causing neurodegeneration due to its involvement in toxic, free-radical reactions. (wikipedia.org)
- McClelland, VM , Lumsden, DE & Lin, JP 2019, ' Disease-specific patterns of basal ganglia neuronal activity in Neurodegeneration with Brain Iron Accumulation type I (NBIA-1) ', Clinical Neurophysiology , vol. 130, no. 6, pp. 877-878. (kcl.ac.uk)
Huntington's Disease9
- Unpublished data) prompted us to measure TRH post mortem in basal ganglia of brains of patients dying of Huntington's disease. (elsevierpure.com)
- Huntington's disease was named for George Huntington, an American physician, who published an article entitled "On Chorea" in 1872 that described the disease. (mhmedical.com)
- 0.05) globus pallidus, although not the insular cortex, in Huntington's disease cases. (ncl.ac.uk)
- The Complexity of Clinical Huntington's Disease: Developments in Molecular Genetics, Neuropathology and Neuroimaging Biomarkers. (neurotree.org)
- This simulated case study involves a 45-year-old male (Johnny Miller) with a recent diagnosis of early-stage Huntington's disease. (physio-pedia.com)
- Following his diagnosis of Huntington's Disease and referral to an outpatient rehabilitation physiotherapy clinic, Mr. Miller received an extensive assessment to appropriately guide his treatment plan. (physio-pedia.com)
- HD that occurs before the age of 20 is called juvenile Huntington's disease [2] . (physio-pedia.com)
- Huntington's disease gene mutation. (physio-pedia.com)
- Huntington's disease (HD) is a dominantly inherited, fatal neurodegenerative disorder caused by a CAG expansion in the Huntingtin ( HTT ) gene, coding for pathologic mutant HTT protein (mHTT). (biorxiv.org)
Cortical3
- Research has shown that the basal ganglia can be modeled as a group of components of parallel, re-entrant cortico-subcortical circuits, which originate in cortical areas, traverse the basal ganglia and terminate in specific areas in the frontal lobe. (wikipedia.org)
- To address this, we studied cortical responses to electrical stimulation of the subthalamic nucleus (STN) at various frequencies between 5 and 30 Hz in two cohorts of eight patients with Parkinson's disease from two different surgical centres. (soton.ac.uk)
- Our results show that the basal ganglia-cortical network involving the STN has a tendency to resonate at 20 Hz in Parkinsonian patients. (soton.ac.uk)
Abnormalities4
- [ 4 ] Neurochemical and neuroimaging studies have demonstrated significant abnormalities of dopamine neuron function in the basal ganglia that might account for the abnormal extrapyramidal neurologic signs and many of the behavioral anomalies. (medscape.com)
- Our purpose was to document the nature and progression of brain abnormalities in Salla disease, a lysosomal storage disorder, with MR imaging. (ajnr.org)
- Given that the virus‑induced neurological involvement is associated with a poorer prognosis, persistent neurological sequelae, and a more severe form of the disease, efforts have been made to introduce a biomarker to recognize neurological abnormalities early in the course of the disease. (ane.pl)
- The early recognition of neurological abnormalities using the NFL biomarker could lead to escalated medical care limiting the progression of SARS‑CoV‑2‑induced central nervous system pathogenesis, resulting in a significant amelioration in disease outcome. (ane.pl)
Essential tremor1
- Deep brain stimulation (DBS) is a proven functional neurosurgical treatment for Parkinson's disease, essential tremor, and generalized dystonia that are intractable with optimal medication [ 1 - 4 ]. (hindawi.com)
GLOBUS PALLIDUS1
- To this end, we analysed local field potential recordings from the subthalamic nucleus and globus pallidus of five patients with Parkinson's disease (four male and one female, aged 37-64 years). (ox.ac.uk)
Putamen3
- The muscle rigidity, tremor at rest, and slowness in initiation and execution of movement that are the cardinal motor symptoms of Parkinson's disease are attributed to a reduction in dopaminergic activity in the basal ganglia motor areas, particularly the putamen, due to gradually reduced innervation from the pars compacta of substantia nigra. (wikipedia.org)
- Iron deposition correlated with the degree of atrophy (ρ = −0.585, p = 0.011) and disease duration (ρ = 0.632, p = 0.005) in the anteromedial putamen. (uni-luebeck.de)
- In the dorsolateral putamen, sensorimotor putamen atrophy correlated with disease severity (ρ = −0.649, p = 0.004). (uni-luebeck.de)
Clinical16
- Comparison of Integrated Outpatient Palliative Care With Standard Care in Patients With Parkinson Disease and Related Disorders: A Randomized Clinical Trial. (ucdenver.edu)
- Children with basal ganglia disease were recruited in a 2-year prospective multicentre study for clinical, biomarker, and genetic studies. (uab.cat)
- Several clinical reports and series exploring the relationship between coronavirus disease 2019 and ischemic strokes have been published. (biomedcentral.com)
- 3. Laboratory evaluations including clinical markers of disease activity, research samples for genetic studies, blood samples for cytokine/biomarker assessment, and gene expression profiling. (nih.gov)
- Has clinical signs or symptoms not explained by any other disorder (eg, infections, malignancies) and are consistent with a possible IL-1 mediated autoinflammatory disease. (nih.gov)
- Clinical characteristics strongly consistent with an IL-1 mediated autoinflammatory disease per the following criteria and at the discretion of the principal investigator (PI). (nih.gov)
- One of the cardinal clinical features of Parkinson's disease, the slowing down and loss of spontaneous and voluntary movement. (michaeljfox.org)
- Despite the promise that many potential neuroprotective treatments for Parkinson disease (PD) have shown in preclinical studies, the benefits have not been replicated in recent clinical trials. (nature.com)
- Clinical research uses human volunteers to help researchers learn more about a disorder and perhaps find better ways to safely detect, treat, or prevent disease. (nih.gov)
- Lesch-Nyhan disease is a genetic disorder associated with 3 major clinical elements: overproduction of uric acid, neurologic disability, and behavioral problems. (medscape.com)
- In addition to the classic clinical disease, patients with less severe disease and partial syndromes are increasingly recognized. (medscape.com)
- Purpose The Oxford Parkinson's Disease Centre (OPDC) Discovery Cohort magnetic resonance imaging (MRI) sub-study (OPDC-MRI) collects high quality multimodal brain MRI together with deep longitudinal clinical phenotyping in patients with Parkinson's, at-risk individuals and healthy elderly participants. (medrxiv.org)
- The clinical analysis using the 3D atlas supports the contention that the stimulation of structures adjacent to the STN, particularly the zona incerta or the field of Forel H, is as effective as the stimulation of the STN itself for the treatment of advanced Parkinson's disease. (hindawi.com)
- We have devised 3D images of the STN and its adjacent structures and investigated the correlation between the anatomical position of DBS and its clinical effect on patients with Parkinson's disease. (hindawi.com)
- clinical disease developed during the follow-up period. (ajnr.org)
- Thirteen of the 15 patients (all but cases 2 and 7) were reexamined by the pediatric neurologist of our group for clinical grading of the disease. (ajnr.org)
Disorders5
- Though motor disorders are the most common associated with the basal ganglia, recent research shows that basal ganglia disorders can lead to other dysfunctions such as obsessive-compulsive disorder (OCD) and Tourette syndrome. (wikipedia.org)
- Understanding these circuits has led to breakthroughs in understanding the disorders of the basal ganglia. (wikipedia.org)
- 2024). Basal ganglia disorders: parkinson and huntington's diseases. (mhmedical.com)
- Non-motor symptoms such as sleep disorders and a poor sense of smell may hold the key to diagnosing Parkinson's disease before the characteristic tremor starts. (nature.com)
- Conditions which feature recurrent or persistent episodes of dyskinesia as a primary manifestation of disease may be referred to as dyskinesia syndromes (see MOVEMENT DISORDERS). (embl.de)
Dysfunction2
- Hyperhomocysteinemia in L-Dopa Treated Patients with Parkinsons Disease: Potential Implications in Cognitive Dysfunction and Dementia? (benthamscience.com)
- We demonstrated elevated GABA levels in the thalamus and adjacent basal ganglia and decreased NAA levels in the frontal cortex, indicating neuronal dysfunction in a brain area not primarily targeted by Mn. (nih.gov)
CAUDATE NUCLEUS1
- Highest amounts are localized in the caudate nucleus (basal ganglia), central nucleus of the amygdala, the median eminence, and restricted frontal cortex fields. (pharmacology2000.com)
Genetics1
- NIEHS research uses state-of-the-art science and technology to investigate the interplay between environmental exposures, human biology, genetics, and common diseases to help prevent disease and improve human health. (nih.gov)
Group of structures in the brain2
- The basal ganglia is a collective group of structures in the brain. (wikipedia.org)
- Biotin-thiamine-responsive basal ganglia disease is a disorder that affects the nervous system, including a group of structures in the brain called the basal ganglia, which help control movement. (medlineplus.gov)
Neuronal2
- Coronavirus disease 2019, like other acute respiratory syndromes, can invade the central nervous system through hematogenous and neuronal dissemination or it can be an immune response to the cytokine storm. (biomedcentral.com)
- Neuronal activity within and across the cortex and basal ganglia is pathologically synchronized, particularly at 20 Hz in patients with Parkinson's disease. (soton.ac.uk)
Dopaminergic2
- In these medical conditions, the neural networks that are involved have been identified: that is, the opioidergic-cholecystokinergic-dopaminergic modulatory network in pain and part of the basal ganglia circuitry in Parkinson's disease. (nature.com)
- Dopamine is an important CNS neurotransmitter and loss of dopaminergic projections in the basal ganglia is considered causative in Parkinson's disease. (pharmacology2000.com)
Diagnosis10
- GeneReviews provides scientific information on genetic diseases, including diagnosis, treatment, and genetic counseling. (nih.gov)
- Understanding what genes are and how changes in genes may affect the body can help you on the journey to diagnosis and treatment of a genetic disease. (nih.gov)
- The 2013 Demystifying Medicine Series, which is jointly sponsored by FAES and NIH, will begin January 8th and includes the presentation of patients, pathology, diagnosis and therapy in the context of major disease problems and current research. (nih.gov)
- Genetic diagnosis of basal ganglia disease in childhood. (uab.cat)
- Dive into the research topics of 'Genetic diagnosis of basal ganglia disease in childhood. (uab.cat)
- Since immunoassay methods of similar design are also used for the diagnosis and management of anemia, malignancies, autoimmune and infectious diseases, cardiac damage, etc., biotin-related analytical interference is a problem that touches every area of internal medicine. (medscape.com)
- People with no prior PD diagnosis or symptoms, no basal ganglia/cerebellar disease and those with a history of substance abuse were excluded from participating in the study. (parkinson.org)
- People with an ADHD diagnosis were shown to have more than 2-fold increased risk of a subsequent diagnosis of BG&C diseases - including and specifically PD - compared to people with no history of ADHD. (parkinson.org)
- Development of the computers and software has provided a new method for understanding of brain structures and the diagnosis of disease [ 9 - 11 ]. (hindawi.com)
- Background: MRI plays a vital role in diagnosis of diseases. (srce.hr)
BTBGD1
- Biotin-thiamine-responsive basal ganglia disease (BTBGD) may present in childhood, early infancy, or adulthood. (nih.gov)
Thiamine12
- Biotin-thiamine-responsive basal ganglia disease is a rare condition that affects the brain and other parts of the nervous system. (nih.gov)
- Biotin-thiamine-responsive basal ganglia disease is caused by changes in the SLC19A3 gene and is inherited in an autosomal recessive manner. (nih.gov)
- When Do Symptoms of Biotin-thiamine-responsive basal ganglia disease Begin? (nih.gov)
- Without early and lifelong vitamin treatment, people with biotin-thiamine-responsive basal ganglia disease experience a variety of neurological problems that gradually get worse. (medlineplus.gov)
- The signs and symptoms of biotin-thiamine-responsive basal ganglia disease usually begin between the ages of 3 and 10, but the disorder can appear at any age. (medlineplus.gov)
- Many of the neurological problems that can occur in biotin-thiamine-responsive basal ganglia disease affect movement, and can include involuntary tensing of various muscles (dystonia), muscle rigidity, muscle weakness on one or both sides of the body (hemiparesis or quadriparesis), problems coordinating movements (ataxia), and exaggerated reflexes (hyperreflexia). (medlineplus.gov)
- Biotin-thiamine-responsive basal ganglia disease is caused by mutations in the SLC19A3 gene. (medlineplus.gov)
- Others propose that biotin transporter proteins may interact with thiamine transporters in such a way that biotin levels influence the course of the disease. (medlineplus.gov)
- Prompt administration of biotin and thiamine early in the disease course results in partial or complete improvement within days in the childhood and adult presentations, but most with the infantile presentation have had poor outcome even after supplementation with biotin and thiamine. (nih.gov)
- Biotin (5-10 mg/kg/day) and thiamine (up to 40 mg/kg/day with a maximum of 1500 mg daily) are given orally as early in the disease course as possible and are continued lifelong. (nih.gov)
- Prompt administration of biotin and thiamine early in the disease course. (nih.gov)
- Pharmacologic use of biotin includes inherited metabolic diseases such as genetic biotin deficiency and biotin-thiamine responsive basal ganglia disease. (medscape.com)
Progressive neurodegenerative2
- Alzheimer's disease (AD) is a progressive neurodegenerative disease and the most common form of senile dementia. (intechopen.com)
- Alzheimer's disease (AD) is a progressive neurodegenerative disorder that involves cognitive impairment, such as loss of memory and reasoning and decline in mental ability. (intechopen.com)
FMRI1
- Brain function, as assayed with resting fMRI yielded more substantial differences, with basal ganglia connectivity reduced in early Parkinson's, and RBD, but not Alzheimer's, suggesting that the effect is pathology specific. (medrxiv.org)
Neural2
- Along with other structures, the basal ganglia are part of a neural circuit that is integral to voluntary motor function. (wikipedia.org)
- 11. The role of basal ganglia network in neural plasticity in neuromyelitis optica spectrum disorder with myelitis. (nih.gov)
Disorder6
- Parkinson's disease (PD) is the second most common neurodegenerative disorder, after Alzheimer's disease, with an estimated 1 million Americans and 7 to 10 million people worldwide affected by the disease. (mhmedical.com)
- A movement disorder sometimes confused with Parkinson's disease that manifests in low, repetitive, involuntary, writhing movements of the arms, legs, hands, and neck that are often especially severe in the fingers and hands. (michaeljfox.org)
- Huntington disease (HD) is an incurable, inherited disorder that occurs from gene mutation and results in the progressive degeneration of nerve cells in the brain [2] .The basal ganglia is the primary location of degeneration, specifically the striatum located within it. (physio-pedia.com)
- Study data published in Neuropsychopharmacology suggest an increased risk for diseases of the basal ganglia and cerebellum in patients with attention-deficit/hyperactivity disorder (ADHD). (chadd.org)
- Scientists believe that dysfunctions of the dopamine system contribute to Parkinson's disease, schizophrenia, restless legs syndrome, and attention-deficit hyperactivity disorder (ADHD) [ 1 ]. (selfhacked.com)
- Sydenham's chorea, a major manifestation of rheumatic fever and a disorder generally limited to prepubertal children, is thought to be disease of basal ganglia, and the basal ganglia is thought to be involved in both Sydenham's chorea and OCD. (psychiatrictimes.com)
Cerebellar5
- A recently published study in the journal, Neuropsychopharmacology , sought to determine if having ADHD and/or its treatment, increases the risk of having basal ganglia and cerebellar diseases. (parkinson.org)
- Overall, ADHD was associated with a 2.4-fold increased risk of basal ganglia and cerebellar (BG&C) diseases. (parkinson.org)
- Of the people diagnosed with a basal ganglia or cerebellar disease, 96 of non-ADHD (32.3%) and 56 of people with ADHD (33.7%) were diagnosed specifically with Parkinson's. (parkinson.org)
- Many diseases with gene-targeted mutations, including Fahr's disease associated with the loss-of-function mutation of meningioma expressed antigen 6 ( Mea6 ), exhibit cerebellar malformations, and abnormal motor behaviors. (frontiersin.org)
- 12. Patterns of striatal and cerebellar functional connectivity in early-stage drug-naïve patients with Parkinson's disease subtypes. (nih.gov)
Connectivity6
- The relative phases of basal ganglia activities dynamically shape effective connectivity in Parkinson's disease. (ox.ac.uk)
- 1. Alterations in Functional and Structural Connectivity of Basal Ganglia Network in Patients with Obesity. (nih.gov)
- 2. Obese Individuals Show Disrupted Dynamic Functional Connectivity between Basal Ganglia and Salience Networks. (nih.gov)
- 14. Task-rest modulation of basal ganglia connectivity in mild to moderate Parkinson's disease. (nih.gov)
- 17. Altered structure and resting-state functional connectivity of the basal ganglia in migraine patients without aura. (nih.gov)
- Similar to basal ganglia, ZI has also been suggested to be involved in numerous nonmotor functions, including attention, orientation, and visceral and sexual activity, probably because of its rich connectivity with almost every center of the neuroaxis (for a review see ( Mitrofanis, 2005 ). (jneurosci.org)
Nuclei1
- Basal ganglia disease is a group of physical problems that occur when the group of nuclei in the brain known as the basal ganglia fail to properly suppress unwanted movements or to properly prime upper motor neuron circuits to initiate motor function. (wikipedia.org)
Deep brain stimu3
- Nootropics, transcranial direct current stimulation (tDCS), transcranial magnetic stimulation (TMS), deep brain stimulation (DBS) and invasive brain mind interface (BMI) technology are allowing humans to treat previously inaccessible diseases as well as open up potential vistas for cognitive enhancement. (mdpi.com)
- Deep brain stimulation is a proven treatment for Parkinson's disease. (nature.com)
- Deep brain stimulation (DBS) of the subthalamic nucleus (STN) is one of the standard surgical treatments for advanced Parkinson's disease. (hindawi.com)
Thalamus1
- This arrangement allows the transformation of the corticofugal signal to an inhibitory input to the thalamus, a feature common to the output structures of the basal ganglia. (jneurosci.org)
Mild4
- In conclusion, it is vital to know the pathophysiology of the neurological manifestations of coronavirus disease 2019 and prevent the mild neurological manifestations leading to severe conditions. (biomedcentral.com)
- A class of drugs used to treat mild to moderate dementia in Parkinson's disease. (michaeljfox.org)
- The patients were graded as having severe, conventional, or mild disease. (ajnr.org)
- It has also been reported that COVID‑19 patients suffering from the severe form of the disease had higher NFL levels than patients with mild to moderate forms. (ane.pl)
Movements2
- Abnormal involuntary movements which primarily affect the extremities, trunk, or jaw that occur as a manifestation of an underlying disease process. (embl.de)
- Although the exact disease mechanism that causes CI is unknown, scientists have been able to discover the neurological centers that control convergence eye movements. (aao.org)
Genetic9
- This disease is caused by a change in the genetic material (DNA). (nih.gov)
- What Is a Genetic Disease? (nih.gov)
- Genetic aetiologies included mitochondrial diseases (57%), Aicardi-Goutières syndrome (20%), and monogenic causes of dystonia and/or epilepsy (17%) mimicking Leigh syndrome. (uab.cat)
- Combined whole-exome and mtDNA sequencing allowed the identification of several genetic conditions affecting basal ganglia metabolism. (uab.cat)
- Mitochondrial biomarkers showed poor sensitivity and specificity in children with mitochondrial disease, whereas interferon signature was observed in all patients with patients with Aicardi-Gouti{\`e}res syndrome.INTERPRETATIONCombined whole-exome and mtDNA sequencing allowed the identification of several genetic conditions affecting basal ganglia metabolism. (uab.cat)
- A genetic mutation in this protein is the basis for a rare inherited form of Parkinson's disease. (michaeljfox.org)
- Genetic mutations in Lesch-Nyhan disease and its variants are heterogenous and include point mutations leading to amino acid substitution (yellow circles), point mutations leading to premature stop (red squares), insertions (blue triangles), deletions (white lines), and other more complex changes (not shown). (medscape.com)
- In the press release at the time the research team lead by Professor Anita Thapar left little room for doubt, saying " Now we can say with confidence that ADHD is a genetic disease and that the brains of children with this condition develop differently to those of other children . (madinamerica.com)
- lt;p>APOE‑ε4 genotype (apolipoprotein E, epsilon 4) is the strongest genetic risk factor for Alzheimer's disease (AD). (ane.pl)
Lesions2
- Using medical imaging, generalized swelling as well as specific areas of damage (lesions) in the brain can often be seen, including in the basal ganglia. (medlineplus.gov)
- We propose a diagnostic algorithm which prioritizes early use of next-generation sequencing on the basis of three clusters of basal ganglia lesions. (uab.cat)
Brains1
- An ultra-high-resolution structure of the core segment of assembled α-synuclein - the protein that aggregates in the brains of patients with Parkinson's disease - has been determined. (nature.com)
Interventions2
- Outcome measures were utilized to determine Mr. Miller's functional capacity in various tasks at the time of admission and were used as comparison data 6 months later to track the progression of the disease as well the effectiveness of interventions utilized. (physio-pedia.com)
- There, using a combination of metagenomic, biochemical, and computational approaches, his group investigates the role of the human microbiome in health, disease, and response to therapeutic interventions. (nih.gov)
Centers for Diseas4
- Centers for Disease Control and Prevention. (cdc.gov)
- The conclusions, findings, and opinions expressed by authors contributing to this journal do not necessarily reflect the official position of the U.S. Department of Health and Human Services, the Public Health Service, the Centers for Disease Control and Prevention, or the authors' affiliated institutions. (cdc.gov)
- The Centers for Disease Control and Prevention (CDC) cannot attest to the accuracy of a non-federal website. (cdc.gov)
- Further, according to the most recent data available from the Centers for Disease Control and Prevention (CDC, 2018), approximately 9.4% of children 2-17 years of age (6.1 million) had ever been diagnosed with ADHD, and almost two thirds (62.0%) were taking medication (Danielson et al. (parkinson.org)
Patients6
- Mitochondrial biomarkers showed poor sensitivity and specificity in children with mitochondrial disease, whereas interferon signature was observed in all patients with patients with Aicardi-Goutières syndrome. (uab.cat)
- Patients with the classic disease also develop persistent and severe self-injurious behavior. (medscape.com)
- In patients with Salla disease, intrauterine growth is normal. (ajnr.org)
- In most patients, the disease is of the conventional type: they learn to walk and speak words or short sentences. (ajnr.org)
- In a few patients with Salla disease, MR findings in the brain may be interpreted as arising from defective myelination (5, 6) . (ajnr.org)
- Our study group comprised 15 patients with Salla disease (eight males and seven females), ranging in age from 1 month to 43 years ( Table 1 ), who were seen at four university hospitals. (ajnr.org)
Metabolism1
- Salla disease, first diagnosed in 1979 (1) , is a recessively inherited lysosomal storage disease caused by an error in sialic acid metabolism. (ajnr.org)
MeSH2
- Basal Ganglia Diseases" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus, MeSH (Medical Subject Headings) . (ucdenver.edu)
- 92 disease terms (MeSH) has been reported with CXCR4 gene. (cdc.gov)
Symptoms of Parkinson's disease1
- The characteristic brain pathology and motor symptoms of Parkinson's disease are well established. (nature.com)
Therapeutic1
- PGC-1α, a potential therapeutic target for early intervention in Parkinson's disease. (neurotree.org)
Mechanism2
- [ 2 ] However, the mechanism by which HPRT deficiency influences the basal ganglia, and particularly the dopamine systems, remains unknown. (medscape.com)
- Because of its gain-of-function mechanism and monogenic etiology, strategies to lower HTT are being actively investigated as disease-modifying therapies. (biorxiv.org)
Syndrome2
- In December 2019, coronavirus disease 2019 spread worldwide, causing acute respiratory distress syndrome. (biomedcentral.com)
- Severe acute respiratory syndrome-coronavirus-2 (SARS-CoV-2) caused coronavirus disease 2019 (COVID-19) in Wuhan, China in December 2019. (biomedcentral.com)
Dystonia1
- Objective: X-linked dystonia-parkinsonism (XDP) is a neurodegenerative disease with adult onset dystonia and subsequent parkinsonism. (uni-luebeck.de)
Findings3
- Coronavirus disease 2019 was detected in this patient on the basis of findings in chest computed tomography scan and positive real reverse transcription polymerase chain reaction test. (biomedcentral.com)
- The present findings extend our previous work and may help to better understand the pathogenesis of Fahr's disease. (frontiersin.org)
- Conclusion: The commonest requests were MRI lumbosacral and, in terms of findings, we found intervertebral disc prolapse, L4-L5 degenerative disc disease, basal ganglia edema and intramuscular lipoma as the major findings from MRI scans in Bauchi. (srce.hr)
Involve1
- Rigidity usually occurs in diseases such as Parkinson's disease that involve the basal ganglia, a deep region of the brain. (nih.gov)
Gene4
- RARe-SOURCE™ offers rare disease gene variant annotations and links to rare disease gene literature. (nih.gov)
- In HD, the mutated Huntington gene causes an increase in the number of repeats of the CAG trinucleotide, with more repetitions leading to a greater risk for the disease. (physio-pedia.com)
- Lesch-Nyhan disease and its variants are caused by mutations in the HPRT gene on the X chromosome. (medscape.com)
- Someone could have a change in a gene tied to Parkinson's, but never get the disease. (webmd.com)
Patterns1
- The basal ganglia motor circuit exhibits exaggerated oscillatory and coherent activity patterns in Parkinson's disease. (ox.ac.uk)