@phdthesis{oai:hama-med.repo.nii.ac.jp:00000055,
 author = {Tomiyama, Hiroyuki},
 month = {Apr},
 note = {浜松医科大学学位論文 医博論第453号(平成20年3月7日）, doctoral, 医学系研究科, 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 3 heterozygous missense (novel I2012T, G2019S, and I2020T) mutations in LRRK2 exon 41. We identified 11 among 868 PD probands (1.3%) including 2 sporadic cases and 8 of 130 (6.2%) autosomal dominant PD families. The LRRK2 mutations in exon 41 exhibited relatively common and worldwide distribution. Among the 3 mutations in exon 41, it has been reported that Caucasian patients with G2019S mutation have a single founder effect. In the present study, Japanese patients with G2019S were unlikely to have a single founder from the Caucasian patients. In contrast, I2020T mutation has a single founder effect in Japanese patients. Clinically, patients with LRRK2 mutations had typical idiopathic PD. Notably, several patients developed dementia and psychosis, and one with I2020T had low cardiac 123I-metaiodobenzylguanidine (MIBG) heart/mediastinum ratio, although the ratio was not low in other patients with I2020T or G2019S. Clinical phenotypes including psychosis, dementia, and MIBG ratios are also heterogeneous, similar to neuropathology, in PD associated with LRRK2 mutations.},
 school = {浜松医科大学},
 title = {Clinicogenetic study of mutations in LRRK2 exon 41 in Parkinson's disease patients from 18 countries},
 year = {2006}
}