Methodist Neurological Institute, Houston, TX, USA.
Department of Neurology and Institute of Neurology, The First Affiliated Hospital of Fujian Medical University, Fujian, China.
Cerebellum. 2019 Apr;18(2):291-294. doi: 10.1007/s12311-018-0978-6.
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.
最近发现转谷氨酰胺酶 6(TGM6)中的基因突变与脊髓小脑性共济失调 35 型(SCA35)有关。我们报告了一位西班牙裔 SCA35 患者,他被证实存在 TGM6 的杂合单核苷酸缺失,导致移码突变和提前终止密码子。先前发现与 TG6 自身抗体反应相关的免疫介导性共济失调可能与 SCA35 具有相似的发病机制,提示 TG6 在小脑功能中具有趋同作用。