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Article

Comprehensive mutational analysis of LRRK2 reveals variants supporting association with autosomal dominant Parkinson's disease.

Journal of human genetics - 1 Sept 2011

Seki Naomi, Takahashi Yuji, Tomiyama Hiroyuki, Rogaeva Ekaterina, Murayama Shigeo, Mizuno Yoshikuni, Hattori Nobutaka, Marras Connie, Lang Anthony E, George-Hyslop Peter St, Goto Jun, Tsuji Shoji

Abstract excerpt

Parkinson's disease (PD) is a neurodegenerative disorder characterized by neurodegeneration, most notably of dopaminergic neurons in the substantia nigra. To date, six causative genes have been identified including LRRK2, whose mutations are the most frequent in autosomal dominant PD (Ad-PD). We conducted a comprehensive mutational analysis of LRRK2 in 30 Ad-PD (11 Japanese and 19 Caucasian) families employing a...

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PMID: 21796139
DOI: 10.1038/jhg.2011.79

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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