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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
medicine
Clinicogenetic study of mutations in LRRK2 exon 41 in Parkinsons's disease patients from 18 countries
Movement Disorders, Volume 21, No. 8, Year 2006
Notification
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Description
We screened LRRK2 mutations in exon 41 in 904 parkin-negative Parkinson's disease (PD) patients (868 pro-bands) 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 relatively common and worldwide distribution. Among the three 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. © 2006 Movement Disorder Society.
Authors & Co-Authors
Tomiyama, Hiroyuki
Japan, Tokyo
Juntendo University School of Medicine
Li, Yuanzhe
Japan, Tokyo
Juntendo University School of Medicine
Funayama, Manabu
Japan, Tokyo
Juntendo University School of Medicine
Japan, Chita
Japan Found. for Aging and Health
Hasegawa, Kazuko
Japan, Sagamihara
National Hospital Organization Sagamihara National Hospital
Yoshino, Hiroyo
Japan, Tokyo
Juntendo University School of Medicine
Kubo, Shin Ichiro
Japan, Tokyo
Juntendo University School of Medicine
Sato, Kenichi
Japan, Tokyo
Juntendo University School of Medicine
Hattori, Tatsuya
Japan, Nagoya
Honmachi Neurological Clinic
Lu, Chin Song
Taiwan, Taipei
Chang Gung Memorial Hospital
Inzelberg, Rivka
Israel, Hadera
Hillel Yaffe Medical Center
Djaldetti, Ruth
Israel, Petah Tiqwa
Rabin Medical Center Israel
Melamed, Eldad
Israel, Petah Tiqwa
Rabin Medical Center Israel
Amouri, Rim
Tunisia, Tunis
Institut National de Neurologie Mongi-ben Hamida
Gouider-Khouja, Neziha
Tunisia, Tunis
Institut National de Neurologie Mongi-ben Hamida
Hentati, F. F.
Tunisia, Tunis
Institut National de Neurologie Mongi-ben Hamida
Hatano, Yasuko
Japan, Tokyo
Juntendo University School of Medicine
Wang, Mei
Japan, Tokyo
Juntendo University School of Medicine
Imamichi, Yoko
Japan, Tokyo
Juntendo University School of Medicine
Mizoguchi, Koichi
Japan, Shizuoka
National Hospital Organization Shizuoka Institute of Epilepsy and Neurological Disorders
Miyajima, Hiroaki
Japan, Hamamatsu
Hamamatsu University School of Medicine
Obata, Fumiya
Japan, Sagamihara
Kitasato University Graduate School of Medical Science
Toda, Tatsushi
Japan, Suita
Graduate School of Medicine
Japan, Kawaguchi
Japan Science and Technology Agency
Farrer, Matthew J.
United States, Jacksonville
Mayo Clinic in Jacksonville, Florida
Mizuno, Yoshikuni
Japan, Tokyo
Juntendo University School of Medicine
Hattori, Nobutaka
Japan, Tokyo
Juntendo University School of Medicine
Japan, Kawaguchi
Japan Science and Technology Agency
Statistics
Citations: 121
Authors: 25
Affiliations: 14
Identifiers
Doi:
10.1002/mds.20886
ISSN:
08853185
e-ISSN:
15318257
Research Areas
Cancer
Genetics And Genomics
Mental Health
Noncommunicable Diseases