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- W34572746 abstract "ABSTRACT: Huntington’s Disease (HD) is a progressive degenerative disorder of the central nervous system inherited as an autosomal dominant trait. Clinically, the disorder is characterized by choreoathetosis (with age of onset typically in the late thirties or early forties) and neuropsychiatric disturbance. The striatum is particularly vulnerable to the degenerative disease process, with selective loss of medium spiny neurons and decreased levels of associated neurotransmitters, including substance P, GABA, met-enkephalin and dynorphin. Although the underlying pathophysiology is unknown, recent theories concerning pathogenesis have involved mitochondrial abnormalities and excitotoxin-mediated damage. The gene for HD has recently been discovered and characterized as an unstable CAG trinucleotide repeat sequence on the short arm of chromosome 4 (now known as IT 15). The direct test now available for the HD gene has facilitated disease diagnosis, particularly for those with unclear family history or chorea of uncertain origin; presymptomatic testing is also available. Management of affected individuals is unsatisfactory as only symptomatic control is available. However, as the effect of the genetic abnormality may soon be known, specific treatment of the disorder may become available in the near future." @default.
- W34572746 created "2016-06-24" @default.
- W34572746 creator A5068098689 @default.
- W34572746 creator A5076341883 @default.
- W34572746 date "1995-02-01" @default.
- W34572746 modified "2023-10-17" @default.
- W34572746 title "Huntington’s Disease: Recent Advances in Diagnosis and Management" @default.
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- W34572746 doi "https://doi.org/10.1017/s0317167100040427" @default.
- W34572746 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/7750074" @default.
- W34572746 hasPublicationYear "1995" @default.
- W34572746 type Work @default.
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