Neuroacanthocytosis is a group of rare, genetic disorders characterized by the presence of abnormal red blood cells called acanthocytes, and various neurological symptoms. The neurological features typically include movement disorders such as chorea (involuntary, dance-like movements), dystonia (sustained muscle contractions causing twisting and repetitive movements or abnormal postures), and parkinsonism (symptoms similar to Parkinson's disease). Neuroacanthocytosis can also cause neuropsychiatric symptoms like personality changes, psychosis, dementia, and seizures.

There are two main types of neuroacanthocytosis: chorea-acanthocytosis (ChAc) and McLeod syndrome (MLS). ChAc is caused by mutations in the VPS13A gene, while MLS is due to mutations in the XK gene. Both conditions are inherited in an autosomal recessive manner, meaning that an individual must inherit two copies of the mutated gene (one from each parent) to develop the disorder.

Diagnosis of neuroacanthocytosis typically involves blood tests to detect acanthocytes, genetic testing for VPS13A or XK gene mutations, and neurological evaluations to assess movement disorders and other neurological symptoms. Treatment is primarily focused on managing the specific symptoms of the disorder, as there is currently no cure for neuroacanthocytosis.

Acanthocytes are irregularly shaped red blood cells that have thorny or spiculated projections on their surface. These abnormal red blood cells are often seen in various medical conditions, including abetalipoproteinemia, malabsorption syndromes, liver diseases, and neuroacanthocytosis. The presence of acanthocytes can indicate abnormalities in lipid metabolism or membrane structure, which can lead to hemolysis and anemia. A blood film or smear is typically used to identify acanthocytes under a microscope.

Chorea is a medical term that describes an involuntary movement disorder characterized by brief, irregular, and abrupt jerky movements. These movements often occur randomly and can affect any part of the body. Chorea can also cause difficulty with coordination and balance, and can sometimes be accompanied by muscle weakness or rigidity.

The term "chorea" comes from the Greek word "χορεία" (khoréia), which means "dance," reflecting the graceful, dance-like movements that are characteristic of this condition. Chorea can occur as a symptom of various underlying medical conditions, including neurological disorders such as Huntington's disease, Sydenham's chorea, and cerebral palsy, as well as metabolic disorders, infections, and certain medications.

Treatment for chorea depends on the underlying cause of the condition and may include medications to help control the involuntary movements, physical therapy to improve coordination and balance, and lifestyle modifications to reduce the risk of injury from falls or other accidents. In some cases, surgery may be recommended as a last resort for severe or refractory chorea.