Hispanic Spinocerebellar Ataxia Type 35 (SCA35) with a Novel Frameshift Mutation

被引：0
作者：
Chih-Chun Lin
Shi-Rui Gan
Deepak Gupta
Armin Alaedini
Peter H Green
Sheng-Han Kuo
机构：
[1] Methodist Neurological Institute,Department of Neurology and Institute of Neurology
[2] The First Affiliated Hospital of Fujian Medical University,Department of Neurology
[3] Columbia University Medical Center,Department of Medicine
[4] Columbia University Medical Center,Celiac Disease Center, College of Physicians and Surgeons
[5] Columbia University,undefined
来源：
The Cerebellum | 2019年 / 18卷
关键词：
Spinocerebellar ataxia; SCA35; Gluten; Cerebellum; Transglutaminase;
D O I：
暂无
中图分类号：
学科分类号：
摘要：
Genetic mutations in transglutaminase 6 (TGM6) are recently identified to be associated with spinocerebellar ataxia type 35 (SCA35). We report a Hispanic SCA35 patient, who was confirmed to have a heterozygous, single-nucleotide deletion in TGM6, causing a frameshift mutation with a premature stop codon. An immune-mediated ataxia previously found to be associated with autoantibody reactivity to TG6 may share a similar pathomechanism to SCA35, suggesting a converging role for TG6 in cerebellar function.
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页码：291 / 294
页数：3
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