Co-occurrence of restless legs syndrome and Parkin mutations in two families

被引：29

作者：

Adel, S

Djarmati, A

Kabakci, K

Pichler, I

Eskelson, C

Lohnau, T

Kock, N

Hagenah, J

Hedrich, K

Schwinger, E

Kramer, PL

Pramstaller, PP

Klein, C

机构：

[1] Univ Lubeck, Dept Neurol, D-23538 Lubeck, Germany

[2] Gen Reg Hosp Bolzano, Dept Neurol, Bolzano, Italy

[3] Univ Lubeck, Dept Human Genet, D-23538 Lubeck, Germany

[4] EURAC Bolzano, Inst Med Genet, Bolzano, Italy

[5] Oregon Hlth & Sci Univ, Dept Neurol, Portland, OR USA

[6] Oregon Hlth & Sci Univ, Dept Mol & Med Genet, Portland, OR USA

来源：

MOVEMENT DISORDERS | 2006年 / 21卷 / 02期

关键词：

restless legs syndrome; Parkin; genetics;

D O I：

10.1002/mds.20690

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Recent studies have suggested an association between restless legs syndrome (RLS) and Parkinson's disease (PD). We present a large multigenerational family and a smaller family with RLS. A Parkin mutation was found in 10 of 20 patients from both families with idiopathic RLS but was not considered causative. The clinical phenotype did not differ between RLS patients with and without a Parkin mutation. Inheritance of RLS was consistent with autosomal dominant transmission, and linkage analysis excluded all three known loci for RLS. (C) 2005 Movement Disorder Society.

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页码：258 / 263

页数：6

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