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- W2615891797 abstract "Chorea-acanthocytosis (Ch-Ac) is a rare neurodegenerative movement disorder. It is an autosomal recessive disease caused by mutations in the Vacuolar Protein Sorting 13 Homolog A (VPS13A) gene, encoding for chorein [ [1] Jung H.H. Danek A. Walker R.H. Neuroacanthocytosis syndromes. Orphanet J. Rare Dis. 2011; 6: 68 Crossref PubMed Scopus (119) Google Scholar ]. The clinical phenotype is classically characterized by choreiform movements, psychiatric disorder and cognitive impairment. A polyneuropathy, a myopathy or an isolated increase in creatine kinase (CK) levels are often detectable and epilepsy can worsen the neurological conditions of Ch-Ac patients. The presence of acanthocytes in the peripheral blood film represents the biological hallmark of the disease. Clinical diagnosis can be confirmed through the discovery of a pathogenic mutation in the VPS13A gene or the absence of chorein on a Western blot assay." @default.
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- W2615891797 date "2017-08-01" @default.
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- W2615891797 title "Chorea-acanthocytosis without chorea: Expanding the clinical phenotype" @default.
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- W2615891797 doi "https://doi.org/10.1016/j.parkreldis.2017.05.013" @default.
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