PubMed · 11176972
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R Jummani, M Okun. 2001. Sydenham chorea.. https://doi.org/10.1001/archneur.58.2.311
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Chorea (Greek for "dance") refers to irregular, rapid, flowing, non-stereotyped and random involuntary movements that often possess a writhing quality, referred to as choreoathetosis. When mild, it may be difficult to differentiate from restlessness. The movements can be strikingly asymmetric, as in hemichorea, or generalized. When chorea is proximal and of large amplitude, it is called ballism. Chorea is worsened by stress and anxiety and subsides during sleep. Movements can interfere with the completion of many daily activities, making fastening a button a substantial effort. Chorea often is incorporated into a purposeful activity in an attempt to disguise it. Motor impersistence is a common associated feature, demonstrated by varying intensity of grip strength (milkmaid's grasp) or by an inability to sustain eye closure or tongue protrusion.
Chorea-acanthocytosis is a neurodegenerative disorder with peripheral red cell acanthocytosis. Linkage of chorea-acanthocytosis to chromosome 9q21 has been found. We refined the locus region and identified a previously unknown, full-length cDNA encoding a presumably structural protein, which we called chorein. We found a deletion in the coding region of the cDNA leading to a frame shift resulting in the production of a truncated protein in both alleles of patients and in single alleles of obligate carriers.