Autosomal Recessive Cerebellar Ataxia 1: First Case Report Depicting a Variant in SYNE1 Gene in a Chilean Patient
| Autor: | S Catherine Díaz, Matheus Gomes Ferreira, Marcelo Miranda, María Leonor Bustamante, J Valentina Castillo, Hélio A.G. Teive |
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| Rok vydání: | 2021 |
| Předmět: |
Genetics
congenital hereditary and neonatal diseases and abnormalities education.field_of_study Mutation Ataxia Cerebellar ataxia 05 social sciences Population Spectrin repeat Autosomal recessive cerebellar ataxia Biology medicine.disease medicine.disease_cause 050105 experimental psychology 03 medical and health sciences 0302 clinical medicine Neurology medicine Spinocerebellar ataxia 0501 psychology and cognitive sciences Neurology (clinical) medicine.symptom education Gene 030217 neurology & neurosurgery |
| Zdroj: | The Cerebellum. 20:938-941 |
| ISSN: | 1473-4230 1473-4222 |
| DOI: | 10.1007/s12311-021-01250-x |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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