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

Cerebellum (London, England) - 1 Dec 2021

Valentina Castillo J, Catherine Díaz S, Bustamante María Leonor, Ferreira Matheus Gomes, Teive Hélio A G, Miranda Marcelo

Abstract excerpt

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...

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PMID: 33651373
DOI: 10.1007/s12311-021-01250-x

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