Neuroacanthocytosis

Abstract

Neuroacanthocytosis refers to a group of inherited genetic disorders resulting in a combination of misshapen red blood cells (acanthocytes) and progressive neurological decline.[1] The neurological presentation can vary widely among diseases and can include shared characteristic features of movement disorders, neuropathy, psychiatric symptoms, neurocognitive degeneration, and seizures.[2] Specific diseases are many, including chorea-acanthocytosis (ChAc),[3] McLeod syndrome (MLS),[4] Huntington like-disease 2 (HDL2),[5] pantothenate kinase-associated neurodegeneration (PKAN, also known as Hallervorden Spatz disease),[6][7] HARP Syndrome (considered part of the PKAN spectrum consisting of hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration), abetalipoproteinemia (ABL),[8] hereditary hypobetalipoproteinemia (HHBL),[9] and aceruloplasminemia.[10][11] 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.