<Emphasis Type="Italic">parkin</Emphasis>mutation dosage and the phenomenon of anticipation: a molecular genetic study of familial parkinsonism期刊界 All Journals 搜尽天下杂志传播学术成果专业期刊搜索期刊信息化学术搜索

parkinmutation dosage and the phenomenon of anticipation: a molecular genetic study of familial parkinsonism

Authors:	Parvoneh?Poorkaj,Lina?Moses,Jennifer?S?Montimurro,John?G?Nutt,Gerard?D?Schellenberg,Haydeh?Payami author-information" > author-information__contact u-icon-before" > mailto:hpayami@wadsworth.org" title=" hpayami@wadsworth.org" itemprop=" email" data-track=" click" data-track-action=" Email author" data-track-label=" " >Email author

Affiliation:	(1) Department of Psychiatry and Behavioral Sciences, University of Washington, Seattle, USA;(2) New York State Department of Health, Genomics Institute, Wadsworth Center, Albany, NY, USA;(3) Department of Neurology, Oregon Health & Science University, Portland, OR, USA;(4) Departments of Neurology and Pharmacology, University of Washington, and Geriatric Research Education Clinical Center, Veterans Affairs Puget Sound Health Care System, Seattle, WA, USA

Abstract:	Background parkin mutations are a common cause of parkinsonism. Possessing two parkin mutations leads to early-onset parkinsonism, while having one mutation may predispose to late-onset disease. This dosage pattern suggests that some parkin families should exhibit intergenerational variation in age at onset resembling anticipation. A subset of familial PD exhibits anticipation, the cause of which is unknown. The aim of this study was to determine if anticipation was due to parkin mutation dosage.

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