Neuroacanthocytosis

Neuroacanthocytosis refers to a group of inherited genetic disorders resulting in a combination of misshapen red blood cells (acanthocytes) and progressive neurological decline. The neurological presentation can vary widely among diseases and can include shared characteristic features of movement disorders, neuropathy, psychiatric symptoms, neurocognitive degeneration, and seizures. Specific diseases are many, including chorea-acanthocytosis (ChAc), McLeod syndrome (MLS), Huntington like-disease 2 (HDL2), pantothenate kinase-associated neurodegeneration (PKAN), HARP Syndrome (considered part of the PKAN spectrum consisting of hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration), abetalipoproteinemia (ABL), hereditary hypobetalipoproteinemia (HHBL), and aceruloplasminemia. The two core conditions are chorea-acanthocytosis and McLeod Syndrome. Each neuroacanthocytosis disorder is extremely rare, with a prevalence of less than 1 to 3 per 1,000,000 individuals for PKAN or fewer than 100 cases ever reported in the case of ABL.