Neuroacanthocytosis

Neuroacanthocytosis is the general term for conditions that are associated with acanthosytosis (red blood cells with multiple thorny projections) and present with neurological symptoms such as chorea, neuropsychiatric symptoms, or dementia.

Neuroacanthocytosis can be divided into two groups: those that present with involuntary movements, such as chorea, and those that do not present with involuntary movements. Among the former core group, chorea-acanthocytosis (this article), McLeod's syndrome, Huntington disease-like 2 (HDL2), and Pantothenate kinase-associated neurodegeneration (PKAN) are the most common neuroacanthocytosis.

Chorea achanthocytosis

Chorea-acanthocytosis represents an autosomal recessive neurodegenerative disorder predominantly targeting the striatum. Characteristically, the disease manifests in individuals aged between their teens and fifties, initially presenting with symptoms such as chorea, tongue biting, psychiatric disturbances, epilepsy, and peripheral neuropathy. Serum creatinine kinase (CK) is elevated in more than 80% of the cases.