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Scientific article
English

Deciphering the natural history of SCA7 in children

Published inEuropean Journal of Neurology, vol. 27, no. 11, p. 2267-2276
Publication date2020
Abstract

Childhood-onset autosomal dominant cerebellar ataxia type 7 (SCA7) is a severe disease which leads to premature loss of ambulation and death. Early diagnosis of SCA7 is of major importance for genetic counselling and still relies on specific genetic testing, driven by clinical expertise. However, the precise phenotype and natural history of paediatric SCA7 has not yet been fully described. Our aims were to describe the natural history of SCA7 in a large multicentric series of children of all ages, and to find correlates to variables defining this natural history.

Keywords
  • Ataxin-7
  • Child
  • Genetic Testing
  • Humans
  • Phenotype
  • Spinocerebellar Ataxias/diagnosis/genetics
Citation (ISO format)
BAH, M G et al. Deciphering the natural history of SCA7 in children. In: European Journal of Neurology, 2020, vol. 27, n° 11, p. 2267–2276. doi: 10.1111/ene.14405
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Article (Published version)
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Identifiers
ISSN of the journal1351-5101
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