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Identification of a Japanese family with LRRK2 p.R1441G-related Parkinson's disease.
Neurobiol Aging. 2014 Nov; 35(11):2656.e17-2656.e23.NA

Abstract

Leucine-rich repeat kinase 2 (LRRK2) is a causative gene of autosomal dominant familial Parkinson's disease (PD). We screened for LRRK2 mutations in 3 frequently reported exons (31, 41, and 48) in our cohort of 871 Japanese patients with PD (430 with sporadic PD and 441 probands with familial PD). Direct sequencing analysis of LRRK2 revealed 1 proband (0.11%) with a p.R1441G mutation, identified for the first time in Asian countries, besides frequently reported substitutions including, the p.G2019S mutation (0.11%) and p.G2385R variant (11.37%). Several studies have suggested that the LRRK2 p.R1441G mutation, which is highly prevalent in the Basque country, is extremely rare outside of northern Spain. Further analysis of family members of the proband with the p.R1441G mutation revealed that her mother and first cousin shared the same mutation and parkinsonism. Haplotype analysis revealed a different haplotype from that of the original Spanish families. Our patients demonstrated levodopa-responsive parkinsonism with intrafamilial clinical heterogeneity. This is the first report of familial PD because of the LRRK2 p.R1441G mutation in Asia.

Authors+Show Affiliations

Department of Neurology, Juntendo University School of Medicine, Tokyo, Japan. Electronic address: thatano@juntendo.ac.jp.Department of Neurology, Juntendo University School of Medicine, Tokyo, Japan; Research Institute for Diseases of Old Age, Juntendo University Graduate School of Medicine, Tokyo, Japan.Department of Neurology, Juntendo University School of Medicine, Tokyo, Japan.Geriatric Research Education and Clinical Center, VA Puget Sound Health Care System, Seattle, WA, USA; Department of Neurology, University of Washington, Seattle, WA, USA.Department of Neurology, Juntendo University School of Medicine, Tokyo, Japan.Department of Neurology, Juntendo University School of Medicine, Tokyo, Japan.Geriatric Research Education and Clinical Center, VA Puget Sound Health Care System, Seattle, WA, USA; Department of Neurology, University of Washington, Seattle, WA, USA.Geriatric Research Education and Clinical Center, VA Puget Sound Health Care System, Seattle, WA, USA; Department of Neurology, University of Washington, Seattle, WA, USA.Research Institute for Diseases of Old Age, Juntendo University Graduate School of Medicine, Tokyo, Japan.Department of Neurology, Juntendo University School of Medicine, Tokyo, Japan.Department of Neurology, Juntendo University School of Medicine, Tokyo, Japan; Department of Research and Therapeutics for Movement Disorders, Juntendo University School of Medicine, Tokyo, Japan.Jichi-idai Station Brain Clinic, Tochigi, Japan.Department of Neuropsychiatry, Fukushima Medical University, Fukushima, Japan.Department of Neuropsychiatry, Fukushima Medical University, Fukushima, Japan.Department of Neuropsychiatry, Fukushima Medical University, Fukushima, Japan.Department of Neurology, Juntendo University School of Medicine, Tokyo, Japan.Department of Neurology, Juntendo University School of Medicine, Tokyo, Japan; Research Institute for Diseases of Old Age, Juntendo University Graduate School of Medicine, Tokyo, Japan. Electronic address: nhattori@juntendo.ac.jp.

Pub Type(s)

Case Reports
Journal Article
Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

24973808

Citation

Hatano, Taku, et al. "Identification of a Japanese Family With LRRK2 p.R1441G-related Parkinson's Disease." Neurobiology of Aging, vol. 35, no. 11, 2014, pp. 2656.e17-2656.e23.
Hatano T, Funayama M, Kubo SI, et al. Identification of a Japanese family with LRRK2 p.R1441G-related Parkinson's disease. Neurobiol Aging. 2014;35(11):2656.e17-2656.e23.
Hatano, T., Funayama, M., Kubo, S. I., Mata, I. F., Oji, Y., Mori, A., Zabetian, C. P., Waldherr, S. M., Yoshino, H., Oyama, G., Shimo, Y., Fujimoto, K. I., Oshima, H., Kunii, Y., Yabe, H., Mizuno, Y., & Hattori, N. (2014). Identification of a Japanese family with LRRK2 p.R1441G-related Parkinson's disease. Neurobiology of Aging, 35(11), e17-e23. https://doi.org/10.1016/j.neurobiolaging.2014.05.025
Hatano T, et al. Identification of a Japanese Family With LRRK2 p.R1441G-related Parkinson's Disease. Neurobiol Aging. 2014;35(11):2656.e17-2656.e23. PubMed PMID: 24973808.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Identification of a Japanese family with LRRK2 p.R1441G-related Parkinson's disease. AU - Hatano,Taku, AU - Funayama,Manabu, AU - Kubo,Shin-Ichiro, AU - Mata,Ignacio F, AU - Oji,Yutaka, AU - Mori,Akio, AU - Zabetian,Cyrus P, AU - Waldherr,Sarah M, AU - Yoshino,Hiroyo, AU - Oyama,Genko, AU - Shimo,Yasushi, AU - Fujimoto,Ken-Ichi, AU - Oshima,Hirokazu, AU - Kunii,Yasuto, AU - Yabe,Hirooki, AU - Mizuno,Yoshikuni, AU - Hattori,Nobutaka, Y1 - 2014/06/02/ PY - 2014/02/15/received PY - 2014/05/26/revised PY - 2014/05/27/accepted PY - 2014/6/30/entrez PY - 2014/6/30/pubmed PY - 2015/10/20/medline KW - Asia KW - Intrafamilial clinical heterogeneity KW - LRRK2 KW - Parkinson's disease KW - p.R1441G SP - 2656.e17 EP - 2656.e23 JF - Neurobiology of aging JO - Neurobiol Aging VL - 35 IS - 11 N2 - Leucine-rich repeat kinase 2 (LRRK2) is a causative gene of autosomal dominant familial Parkinson's disease (PD). We screened for LRRK2 mutations in 3 frequently reported exons (31, 41, and 48) in our cohort of 871 Japanese patients with PD (430 with sporadic PD and 441 probands with familial PD). Direct sequencing analysis of LRRK2 revealed 1 proband (0.11%) with a p.R1441G mutation, identified for the first time in Asian countries, besides frequently reported substitutions including, the p.G2019S mutation (0.11%) and p.G2385R variant (11.37%). Several studies have suggested that the LRRK2 p.R1441G mutation, which is highly prevalent in the Basque country, is extremely rare outside of northern Spain. Further analysis of family members of the proband with the p.R1441G mutation revealed that her mother and first cousin shared the same mutation and parkinsonism. Haplotype analysis revealed a different haplotype from that of the original Spanish families. Our patients demonstrated levodopa-responsive parkinsonism with intrafamilial clinical heterogeneity. This is the first report of familial PD because of the LRRK2 p.R1441G mutation in Asia. SN - 1558-1497 UR - https://www.unboundmedicine.com/medline/citation/24973808/Identification_of_a_Japanese_family_with_LRRK2_p_R1441G_related_Parkinson's_disease_ L2 - https://linkinghub.elsevier.com/retrieve/pii/S0197-4580(14)00388-1 DB - PRIME DP - Unbound Medicine ER -