DRD3 Ser9Gly variant is not associated with essential tremor in a series of Italian patients

被引：23

作者：

Vitale, C. ^{[2
]}

Gulli, R. ^{[1
]}

Ciotti, P. ^{[1
]}

Scaglione, C. ^{[3
]}

Bellone, E. ^{[1
]}

Avanzino, L. ^{[4
]}

Lantieri, F. ^{[5
]}

Abbruzzese, G. ^{[4
]}

Martinelli, P. ^{[3
]}

Barone, P. ^{[2
]}

Mandich, P. ^{[1
]}

机构：

[1] Univ Genoa, Dept Neurosci Ophtalmol & Genet, Med Genet Sect, DIMI, I-16132 Genoa, Italy

[2] Univ Naples Federico II, Inst Diagnosis & Therapy, Dept Neurol Sci, Genoa, Italy

[3] Univ Genoa, Dept Neurosci Ophtalmol & Genet, Neurol Sect, I-16132 Genoa, Italy

[4] Univ Genoa, Dept Hlth Sci, Biostat Unit, I-16132 Genoa, Italy

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

来源：

EUROPEAN JOURNAL OF NEUROLOGY | 2008年 / 15卷 / 09期

关键词：

D3 dopamine receptor; essential tremor; ET; Ser9Gly polymorphism;

D O I：

10.1111/j.1468-1331.2008.02164.x

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Background: Essential tremor (ET) is the most common movement disorder worldwide. Three susceptibility loci on chromosomes 3q13, 2p24.1, and 6p23 have been reported, but no causative genes were found. The Ser9Gly variant of dopamine D3 receptor (DRD3) receptor was found associated to ET in a French and US population. Methods: A case-control study to evaluate the association between the Ser9Gly variant and ET was performed in a cohort of 116 Italian patients with familial ET and in 158 normal controls. Results: No significant difference in allele and genotype frequencies was found between the two groups. Conclusions: These results do not support an association between DRD3 Ser9Gly and susceptibility to ET in Italian patients.

引用

页码：985 / 987

页数：3

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