TY - JOUR
T1 - A novel mutation (L250V) in the presenilin 1 gene in a Japanese familial Alzheimer's disease with myoclonus and generalized convulsion
AU - Furuya, Hirokazu
AU - Yasuda, Minoru
AU - Terasawa, Ken Jiro
AU - Tanaka, Kazuhiro
AU - Murai, Hiroyuki
AU - Kira, Jun Ichi
AU - Ohyagi, Yasumasa
PY - 2003/5/15
Y1 - 2003/5/15
N2 - 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 mutation was found in both patients, but not in a normal family member or normal Japanese control subjects. Thus, L250V is a novel PS1 gene mutation responsible for familial AD (FAD) in Japan.
AB - 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 mutation was found in both patients, but not in a normal family member or normal Japanese control subjects. Thus, L250V is a novel PS1 gene mutation responsible for familial AD (FAD) in Japan.
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U2 - 10.1016/S0022-510X(02)00466-5
DO - 10.1016/S0022-510X(02)00466-5
M3 - Article
C2 - 12686406
AN - SCOPUS:0347295931
SN - 0022-510X
VL - 209
SP - 75
EP - 77
JO - Journal of the Neurological Sciences
JF - Journal of the Neurological Sciences
IS - 1-2
ER -