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

The Cerebellum volume 20, pages 938–941 (2021)Cite this article

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.

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Author information

Affiliations

  1. Clinical Genetics Resident, Clinical Genetics Department, Clinical Hospital of the University of Chile, Santiago, Chile

    J Valentina Castillo

  2. Head of Genetics Unit, Roberto del Río Hospital, Genetics Section, 1085, Independencia, Santiago, Chile

    S Catherine Díaz

  3. Fundación Diagnosis, Santiago, Chile

    S Catherine Díaz, María Leonor Bustamante & Marcelo Miranda

  4. Human Genetics Program, Institute of Biomedical Sciences, School of Medicine, University of Chile, Santiago, Chile

    María Leonor Bustamante

  5. Department of Psychiatry and Mental Health, North Campus, School of Medicine, University of Chile, Santiago, Chile

    María Leonor Bustamante

  6. Movement Disorders Unit, Neurology Service, Internal Medicine Department, Hospital de Clínicas, Federal University of Paraná, Curitiba, PR, Brazil

    Matheus Gomes Ferreira & Hélio A. G. Teive

  7. Neurology Unit, Las Condes Clinic, Santiago, Chile

    Marcelo Miranda

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  1. J Valentina Castillo
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  2. S Catherine Díaz
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  3. María Leonor Bustamante
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  4. Matheus Gomes Ferreira
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  5. Hélio A. G. Teive
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  6. Marcelo Miranda
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Correspondence to S Catherine Díaz.

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Valentina Castillo, J., Catherine Díaz, S., Bustamante, M.L. et al. Autosomal Recessive Cerebellar Ataxia 1: First Case Report Depicting a Variant in SYNE1 Gene in a Chilean Patient. Cerebellum 20, 938–941 (2021). https://doi.org/10.1007/s12311-021-01250-x

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Keywords

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