Article
Clinicogenetic study of mutations in LRRK2 exon 41 in Parkinson's disease patients from 18 countries.
Movement disorders : official journal of the Movement Disorder Society - 1 Aug 2006
Tomiyama Hiroyuki, Li Yuanzhe, Funayama Manabu, Hasegawa Kazuko, Yoshino Hiroyo, Kubo Shin-Ichiro, Sato Kenichi, Hattori Tatsuya, Lu Chin-Song, Inzelberg Rivka, Djaldetti Ruth, Melamed Eldad, Amouri Rim, Gouider-Khouja Neziha, Hentati Faycal, Hatano Yasuko, Wang Mei, Imamichi Yoko, Mizoguchi Koichi, Miyajima Hiroaki, Obata Fumiya, Toda Tatsushi, Farrer Matthew J, Mizuno Yoshikuni, Hattori Nobutaka
Abstract excerpt
We screened LRRK2 mutations in exon 41 in 904 parkin-negative Parkinson's disease (PD) patients (868 probands) from 18 countries across 5 continents. We found three heterozygous missense (novel I2012T, G2019S, and I2020T) mutations in LRRK2 exon 41. We identified 11 (1.3%) among 868 PD probands, including 2 sporadic cases and 8 (6.2%) of 130 autosomal dominant PD families. The LRRK2 mutations in exon 41 exhibited...
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