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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 sequen...

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PMID: 12686406
DOI: 10.1016/s0022-510x(02)00466-5

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-12686406-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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