Neuroacanthocytosis
Neuroacanthocytosis (NA) syndromes are a group of genetic diseases characterized by the association of red blood cell acanthocytosis (deformed erythrocytes with spike-like protrusions) and progressive degeneration of the basal ganglia
Neuroacanthocytosis is a label applied to several genetic neurological conditions in which the blood contains misshapen, spiculated red blood cells called acanthocytes.
The 'core' neuroacanthocytosis syndromes, in which acanthocytes are a typical feature, are chorea acanthocytosis and McLeod syndrome. Acanthocytes are seen less frequently in other conditions including Huntington's disease-like syndrome 2 (HDL2) and pantothenate kinase-associated neurodegeneration (PKAN).
The neuroacanthocytosis syndromes are caused by a range of genetic mutations and produce a variety of clinical features but primarily produce neurodegeneration of the brain, specifically the basal ganglia.
The diseases are hereditary but rare.
Acanthocytes
The hallmark of the neuroacanthocytosis syndromes is the presence of acanthocytes in peripheral blood. Acanthocytosis originated from the Greek word acantha, meaning thorn. Acanthocytes are spiculated red blood cells and can be caused by altered distribution of membrane lipids or membrane protein/skeleton abnormalities. In neuroacanthocytosis, acanthocytes are caused by protein but not lipid membrane abnormalities
Signs and symptoms
The 'core' neuroacanthocytosis syndromes are chorea acanthocytosis and McLeod syndrome. Acanthocytes are nearly always present in these conditions and they share common clinical features.
Begin with the source’s own compact description: “Neuroacanthocytosis” is neuroacanthocytosis (NA) syndromes are a group of genetic diseases characterized by the association of red blood cell acanthocytosis (deformed erythrocytes with spike-like protrusions) and progressive degeneration of the basal ganglia. The dossier treats that line as a proposition to test through Neuroacanthocytosis, syndromes and group, not as a finished interpretation.
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Chronology, provenance and viewpoint should be read together before a broad social or political interpretation is accepted. The source revision retrieved here is dated Sep 4, 2026. The linked authority identifier is Q746781. None of the 0 selected statements returned an explicit reference.
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This entry incorporates text from “Neuroacanthocytosis” on English Wikipedia. Contributors are listed in the page history. Text is available under the Creative Commons Attribution-ShareAlike 4.0 License. Selected authority identifiers and statements are retrieved from Wikidata under CC0; their references and qualifiers remain part of the verification path.