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Clinicogenetic study of PINK1 mutations in autosomal recessive early-onset parkinsonism

From the Department of Neurology (Drs. Li, Tomiyama, Sato, Hatano, Mizuno, Hattori, and Yoshino), Juntendo University School of Medicine, Tokyo; Department of Neurology (Drs. Atsumi and Kitaguchi), Baba Memorial Hospital, Osaka; Department of Neurology (Dr. Sasaki), Tokyo Women’s Medical University, Tokyo; Department of Neurology (Dr. Kawaguchi), Jikei University of Medicine, Tokyo; the First Department of Medicine (Dr. Miyajima), Hamamatsu University School of Medicine, Hamamatsu; Division of Functional Genomics (Dr. Toda), Osaka University Graduate School of Medicine, Suita; CREST, Japan Science and Technology Corporation (Drs. Toda and Hattori), Saitama, Japan.

Address correspondence and reprint requests to Dr. Nobutaka Hattori, Department of Neurology, Juntendo University School of Medicine, 2-1-1 Hongo, Bunkyo, Tokyo 113-0033, Japan; e-mail: nhattori{at}med.juntendo.ac.jp

The authors performed PINK1 mutation analysis of 51 families with autosomal recessive Parkinson disease (ARPD). They found two novel PINK1 mutations: one was a homozygous deletion (13516-18118del) and the other a homozygous missense mutation (C388R). Clinically, the patients with the deletion had dementia. Thus, early-onset PD with dementia may be considered PINK1-linked parkinsonism. Furthermore, patients with PINK1 mutations form 8.9% of parkin- and DJ-1-negative ARPD families.

*These authors contributed equally to this work.

Supported in part by the Ministry of Education, Science, Sports, and Culture of Japan and by the Fund for "Research for the Future" Program from the Japan Society for the Promotion of Science.

Received December 30, 2004. Accepted in final form March 1, 2005.

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