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

Abstract

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.

• Authors: J Valentina Castillo, S Catherine Díaz, María Leonor Bustamante, Matheus Gomes Ferreira, Hélio A G Teive, Marcelo Miranda
• Journal: Cerebellum (London, England) (Cerebellum) Vol. 20 Issue 6 Pg. 938-941 (Dec 2021) ISSN: 1473-4230 [Electronic] United States
• PMID: 33651373 (Publication Type: Case Reports, Journal Article)
• Copyright: © 2021. The Author(s), under exclusive licence to Springer Science+Business Media, LLC part of Springer Nature.

Chemical References

• Cytoskeletal Proteins
• Nerve Tissue Proteins
• Nuclear Proteins
• SYNE1 protein, human

Topics

• Canada
• Cerebellar Ataxia (diagnostic imaging, genetics)
• Cytoskeletal Proteins (genetics)
• Humans
• Male
• Middle Aged
• Mutation
• Nerve Tissue Proteins (genetics)
• Nuclear Proteins (genetics)