Clinical Genetics Resident, Clinical Genetics Department, Clinical Hospital of the University of Chile, Santiago, Chile.
Head of Genetics Unit, Roberto del Río Hospital, Genetics Section, 1085, Independencia, Santiago, Chile.
Cerebellum. 2021 Dec;20(6):938-941. doi: 10.1007/s12311-021-01250-x. Epub 2021 Mar 2.
Autosomal recessive cerebellar ataxia type 1 (ARCA-1) or spinocerebellar ataxia autosomal recessive type 8 (SCAR8) is a slowly progressive neurodegenerative disorder that occurs due to mutations in the spectrin repeat containing nuclear envelope protein 1 (SYNE1) gene. Previously considered a rare cause of ARCA, related to French-Canadian patients from Beauce, Quebec, Canada, SYNE1 ataxia is now known to be of worldwide distribution. We present the case report of a 54-year-old male patient with the genetic diagnosis of SYNE1 ataxia, presenting with a SYNE1 gene mutation never described in Chilean population before.
常染色体隐性小脑共济失调 1 型（ARCA-1）或常染色体隐性脊髓小脑共济失调 8 型（SCAR8）是一种缓慢进展的神经退行性疾病，由 spectrin 重复核膜蛋白 1（SYNE1）基因突变引起。以前被认为是 ARCA 的罕见病因，与加拿大魁北克省博斯的法裔加拿大患者有关，现在已知 SYNE1 共济失调在世界范围内都有分布。我们报告了一例 54 岁男性患者的病例，该患者的遗传诊断为 SYNE1 共济失调，携带智利人群以前从未描述过的 SYNE1 基因突变。
