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Mutation screening of GNAL gene in patients with primary dystonia from Northeast China.

Abstract：

BACKGROUND:Mutations in GNAL have recently been identified as responsible for primary dystonia, however, GNAL mutations in Chinese patients with primary dystonia are not well characterized. PATIENTS AND METHODS:Fifty-nine unrelated patients with cervical onset or cervical involved primary dystonia and 120 neurologically normal controls from Northeast China without mutations of TOR1A and THAP1 were all screened for mutation of GNAL gene. RESULTS:One subject with adult-onset generalized dystonia was found have a novel nonsense GNAL mutation (c.284C>T, p.Ser95X). Another subject with adult-onset cervical dystonia was found harbor the c.932-7T>G tentative splice site mutation. Although another seventeen sequence variants were identified in both patients and controls, no disease association was found among these sequence variants. CONCLUSIONS:Mutations in GNAL gene can cause adult-onset primary dystonia in Chinese patients, and the mutation frequency is 3.4% in cervical onset or cervical involved primary dystonia. This paper identifies the first case of GNAL dystonia in the Chinese population.

journal_name

Parkinsonism Relat Disord

journal_title

Parkinsonism & related disorders

authors

Miao J,Wan XH,Sun Y,Feng JC,Cheng FB

doi

10.1016/j.parkreldis.2013.05.011

subject

Has Abstract

pub_date

2013-10-01 00:00:00

pages

910-2

issue

10

eissn

1353-8020

issn

1873-5126

pii

S1353-8020(13)00198-3

journal_volume

19

pub_type

杂志文章

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