Difference between revisions of "Neurodegenerative diseases"

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(→‎Huntington disease: expand a bit)
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===General===
===General===
*Autosomal dominant inheritance.
*Autosomal dominant inheritance.
*Mutation: unstable CAG repeat.<ref name=pmid20360611>{{cite journal |author=Kumar P, Kalonia H, Kumar A |title=Huntington's disease: pathogenesis to animal models |journal=Pharmacol Rep |volume=62 |issue=1 |pages=1–14 |year=2010 |pmid=20360611 |doi= |url=}}</ref>
*Mutation in ''Huntington gene'' (HTT):<ref name=pmid20360611>{{cite journal |author=Kumar P, Kalonia H, Kumar A |title=Huntington's disease: pathogenesis to animal models |journal=Pharmacol Rep |volume=62 |issue=1 |pages=1–14 |year=2010 |pmid=20360611 |doi= |url=}}</ref>
**11-34 CAG repeat = normal.<ref name=omim613004>{{OMIM|613004}}</ref>
**>42 CAG repeat = Huntington disease.
 
Clinical:
*Early onset dementia.
*Involuntary movements (chorea).


===Gross===
===Gross===
48,830

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