Autosomal Recessive Cerebellar Ataxia 1: First Case Report Depicting a Variant in SYNE1 Gene in a Chilean Patient

被引：1

作者：

Valentina Castillo, J. ^{[1
]}

Catherine Diaz, S. ^{[2
,3
]}

Bustamante, Maria Leonor ^{[3
,4
,5
]}

Ferreira, Matheus Gomes ^{[6
]}

Teive, Helio A. G. ^{[6
]}

Miranda, Marcelo ^{[3
,7
]}

机构：

[1] Univ Chile, Clin Genet Dept, Clin Hosp, Santiago, Chile

[2] Roberto Del Rio Hosp, Genet Sect, Genet Unit, Santiago 1085, Chile

[3] Fdn Diag, Santiago, Chile

[4] Univ Chile, Inst Biomed Sci, Sch Med, Human Genet Program, Santiago, Chile

[5] Univ Chile, Sch Med, Dept Psychiat & Mental Hlth, North Campus, Santiago, Chile

[6] Univ Fed Parana, Hosp Clin, Internal Med Dept, Movement Disorders Unit,Neurol Serv, Curitiba, PR, Brazil

[7] Clin Las Condes, Neurol Unit, Santiago, Chile

来源：

CEREBELLUM | 2021年 / 20卷 / 06期

关键词：

Cerebellar ataxia; Autosomal recessive cerebellar ataxia; ARCA-1; SCAR8; SYNE1; ataxia;

D O I：

10.1007/s12311-021-01250-x

中图分类号：

Q189 [神经科学];

学科分类号：

071006 ;

摘要：

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.

引用

页码：938 / 941

页数：4

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