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 (this article), Huntington disease-like 2 (HDL2), and Pantothenate kinase-associated neurodegeneration (PKAN) are the most common neuroacanthocytosis.

McLeod's syndrome

McLeod's syndrome is typically characterized by its onset in individuals aged between 30 and 70 years, manifesting symptoms including chorea, psychiatric disturbances, and epilepsy. An elevated serum creatine kinase (CK) level is also observed, indicative of underlying myopathy and cardiomyopathy.