Mutations in rare ataxia genes are uncommon causes of sporadic cerebellar ataxia

被引：26

作者：

Fogel, Brent L. ^{[1
]}

Lee, Ji Yong ^{[1
]}

Lane, Jessica ^{[1
]}

Wahnich, Amanda ^{[1
]}

Chan, Sandy ^{[1
]}

Huang, Alden ^{[1
]}

Osborn, Greg E. ^{[1
]}

Klein, Eric ^{[1
]}

Mamah, Catherine ^{[1
]}

Perlman, Susan ^{[1
]}

Geschwind, Daniel H. ^{[1
,2
,3
]}

Coppola, Giovanni ^{[1
,2
]}

机构：

[1] Univ Calif Los Angeles, David Geffen Sch Med, Dept Neurol, Program Neurogenet, Los Angeles, CA 90095 USA

[2] Univ Calif Los Angeles, David Geffen Sch Med, Dept Psychiat, Los Angeles, CA 90095 USA

[3] Univ Calif Los Angeles, David Geffen Sch Med, Dept Human Genet, Los Angeles, CA 90095 USA

来源：

MOVEMENT DISORDERS | 2012年 / 27卷 / 03期

关键词：

cerebellar ataxia; copy number variation; dominant genetic conditions; recessive genetic conditions; spinocerebellar ataxia; HUNTINGTONS-DISEASE; MOTOR FUNCTION; PLACEBO; IMIPRAMINE; SENATAXIN; AMOXAPINE; HELICASE; ARSACS; REWARD;

D O I：

10.1002/mds.24064

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Background: Sporadic-onset ataxia is common in a tertiary care setting but a significant percentage remains unidentified despite extensive evaluation. Rare genetic ataxias, reported only in specific populations or families, may contribute to a percentage of sporadic ataxia. Methods: Patients with adult-onset sporadic ataxia, who tested negative for common genetic ataxias (SCA1, SCA2, SCA3, SCA6, SCA7, and/ or Friedreich ataxia), were evaluated using a stratified screening approach for variants in 7 rare ataxia genes. Results: We screened patients for published mutations in SYNE1 (n = 80) and TGM6 (n = 118), copy number variations in LMNB1 (n = 40) and SETX (n = 11), sequence variants in SACS (n = 39) and PDYN (n 5 119), and the pentanucleotide insertion of spinocerebellar ataxia type 31 (n = 101). Overall, we identified 1 patient with a LMNB1 duplication, 1 patient with a PDYN variant, and 1 compound SACS heterozygote, including a novel variant. Conclusions: The rare genetic ataxias examined here do not significantly contribute to sporadic cerebellar ataxia in our tertiary care population. VC 2012 Movement Disorder Society

引用

页码：442 / 446

页数：5

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