Neuroacanthocytosis - Classification

Classification

Neuroacanthocytosis disease group
Disease Mutation Inheritance
Chorea acanthocytosis VPS13A (CHAC gene) autosomal recessive
McLeod syndrome XK gene on X-chromosome X-linked recessive
Huntington’s disease–like 2 JPH3 autosomal dominant
Pantothenate kinase-associated neurodegeneration PANK2 autosomal recessive

Four syndromes are classified as neuroacanthocytosis. These syndromes are caused by different genetic mutations, but the signs and symptoms are usually similar, leading to the unified classification as forms of neuroacanthocytosis.

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