Neuroacanthocytosis

Neuroacanthocytosis refers to a group of rare, genetically determined, neurodegenerative disorders that are characterized by the presence of acanthocytes in the blood and neurological symptoms such as movement disorders, seizures, dementia, and psychiatric symptoms. The term "neuroacanthocytosis" is derived from "neuro" for nerve, and "acanthocyte" for spiky red blood cells.

Types

There are several types of neuroacanthocytosis, including:

• Chorea-acanthocytosis
• McLeod syndrome
• Huntington's disease-like 2
• Pantothenate kinase-associated neurodegeneration

Symptoms

The symptoms of neuroacanthocytosis vary depending on the specific type of the disorder. Common symptoms include:

• Chorea (involuntary, irregular, jerky movements)
• Dystonia (abnormal muscle tone leading to muscular spasm and abnormal posture)
• Parkinsonism (symptoms similar to Parkinson's disease such as rigidity, bradykinesia, and tremor)
• Seizures
• Dementia
• Psychiatric symptoms such as depression, anxiety, and personality changes

Diagnosis

Diagnosis of neuroacanthocytosis is based on clinical symptoms, blood tests showing the presence of acanthocytes, and genetic testing confirming a mutation in one of the genes associated with the disorder.

Treatment

There is currently no cure for neuroacanthocytosis. Treatment is symptomatic and supportive, and may include medications to manage movement disorders and psychiatric symptoms, physical therapy to improve mobility and strength, and occupational therapy to assist with daily activities.

See also

• Neurodegenerative disorders
• Movement disorders
• Genetic disorders

Neuroacanthocytosis Resources
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