4.7 Article

LRRK2 mutations in Parkinson disease

期刊

NEUROLOGY
卷 65, 期 5, 页码 738-740

出版社

LIPPINCOTT WILLIAMS & WILKINS
DOI: 10.1212/01.WNL.0000169023.51764.b0

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资金

  1. NIEHS NIH HHS [R01 ES10751] Funding Source: Medline
  2. NINDS NIH HHS [R01 NS33978, P01 NS40256] Funding Source: Medline

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To determine the frequency of LRRK2 mutations in idiopathic Parkinson disease (PD), the authors studied 786 PD probands, 32 affected siblings, 1,044 unaffected siblings, and 278 unrelated controls. The authors designed allelic discrimination assays for nine LRRK2 mutations and identified these in six probands with PD, one affected sibling, one unaffected sibling, and one unrelated control. Thus LRRK2 mutations only rarely cause idiopathic PD.

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