Haw river syndrome
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dentatorubral and pallidoluysian atrophyAn autosomal-dominant CAG repeat disease which is characterised by spinocerebellar degeneration, with selective destruction of cerebellar neurons—dentate nucleus, globus pallidus, and Luys body.
Progressive ataxia, choreoathetosis, dystonia, seizures, myoclonus, dementia, mental retardation.
Machado-Joseph disease, spinocerebellar ataxia type 1, Huntington’s disease.
DRPLA is caused by an expansion of the polyglutamine region of ATN1, on chromosome 12p13.31, which encodes atrophin-1—which is thought to contain a nuclear localisation signal in the N-end and a nuclear export signal in the C-end.
Segen's Medical Dictionary. © 2012 Farlex, Inc. All rights reserved.
Haw river syndromeA rare genetic disorder, similar to Huntington's disease, caused by a gene mutation on chromosome 12. It was found in five generations of a family from the Haw River area of North Carolina, USA. The condition starts in adolescence or early adult life and features lack of coordination, ataxia, paranoia, delusions, hallucinations, chorea, generalised seizures, and dementia, with death occurring 15 to 20 years after onset.
Collins Dictionary of Medicine © Robert M. Youngson 2004, 2005
Haw River,river running through Chatham County, North Carolina, and into Jordan Lake.
Haw River syndrome - a dominant neurodegenerative disease that has affected five generations of a rural African American family; symptoms resemble those of Huntington disease.
Medical Eponyms © Farlex 2012