Premutations in the FMR1 gene as a modifying factor in Parkin-associated Parkinson's disease?

被引：26

作者：

Hedrich, K

Pramstaller, PP

Stübke, K

Hiller, A

Kabakci, K

Purmann, S

Kasten, M

Scaglione, C

Schwinger, E

Volkmann, J

Kostic, V

Vieregge, P

Martinelli, P

Abbruzzese, G

Klein, C

Zühlke, C

机构：

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

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

[3] Reg Hosp Bolzano, Dept Neurol, Bolzano, Italy

[4] EURAC, Bolzano, Italy

[5] Univ Kiel, Dept Neurol, D-2300 Kiel, Germany

[6] Univ Bologna, Dept Neurol Sci, Bologna, Italy

[7] Univ Belgrade, Dept Neurol, Belgrade, Serbia Monteneg

[8] Klinikum Lippe Lemgo, Dept Neurol, Lemgo, Germany

[9] Univ Genoa, Dept Neurol Sci & Vis, Genoa, Italy

来源：

MOVEMENT DISORDERS | 2005年 / 20卷 / 08期

关键词：

FMR1; parkinsonism; CGG repeat; Parkin mutation;

D O I：

10.1002/mds.20512

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Premutations in the FMR1 gene may be associated with some cases of parkinsonism. To test this hypothesis, we determined the CGG repeat number in FMR1 in 673 individuals with and without parkinsonism and detected 3 premutation carriers (2 patients, 1 control). Of note, 1 of the affected premutation carriers had a hetcrozygous Parkin mutation. (c) 2005 Movement Disorder Society

引用

页码：1060 / 1062

页数：3

共 12 条

[1] Screen for expanded FMR1 alleles in patients with essential tremor [J].