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• W60829261 startingPage "141" @default.
• W60829261 abstract "The term “neuroacanthocytosis” describes a heterogeneous group of molecularly-defined disorders which result in progressive neurodegeneration, predominantly of the basal ganglia, and erythrocyte acanthocytosis. The clinical presentation of neuroacanthocytosis syndromes typically involves chorea and dystonia, but a range of other movement disorders may be seen. Psychiatric and cognitive symptoms may be prominent. There can be considerable phenotypic overlap; however, features of inheritance, age of onset, neuroimaging and laboratory findings, in addition to the spectrum of central and peripheral neurological abnormalities and extraneuronal involvement, can help to distinguish the specific syndromes. The two core neuroacanthocytosis syndromes, in which acanthocytosis is a typical, although not invariable finding, are autosomal recessive chorea-acanthocytosis and X-linked McLeod syndrome. Acanthocytes are found in a smaller proportion of patients with Huntington's disease-like 2 and pantothenate kinase-associated neurodegeneration. Additionally, acanthocytosis has been reported in a few patients with other neurological disorders. The causative genes do not appear to be linked by a specific function or pathway, although abnormalities of membrane processing may be implicated. The connection between the erythrocyte membrane abnormality, which results in the characteristic “thorny” protrusions, the vulnerability of the basal ganglia, and the respective genetic mutations, is obscure." @default.
• W60829261 created "2016-06-24" @default.
• W60829261 creator A5007116905 @default.
• W60829261 creator A5077529619 @default.
• W60829261 creator A5084389843 @default.
• W60829261 date "2011-01-01" @default.
• W60829261 modified "2023-10-16" @default.
• W60829261 title "Neuroacanthocytosis" @default.
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