Difference between revisions of "Neurodegenerative diseases"

Neurodegenerative diseases (view source)

185 bytes added , 15:17, 7 May 2012

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 ===General===
 *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===