Article
A novel mutation (L250V) in the presenilin 1 gene in a Japanese familial Alzheimer's disease with myoclonus and generalized convulsion.
Journal of the neurological sciences - 15 May 2003
Furuya Hirokazu, Yasuda Minoru, Terasawa Ken-jiro, Tanaka Kazuhiro, Murai Hiroyuki, Kira Jun-ichi, Ohyagi Yasumasa
Abstract excerpt
This study reports a novel presenilin 1 (PS1) gene mutation in a Japanese family with Alzheimer's disease (AD). Two patients developed progressive memory disorder with disorientation around 50 years of age and showed myoclonus with frequent tonic-clonic seizures several years later. Direct sequencing of the proband's PS1 gene revealed a novel mis-sense mutation (leucine-to-valine at residue 250 (L250V)). This...
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