Novel compound heterozygous mutation in SACS gene leads to a milder autosomal recessive spastic ataxia of Charlevoix‐Saguenay, ARSACS, in a Finnish family

Autosomal recessive spastic ataxia of Charlevoix‐Saguenay is a rare disorder outside Quebec causing childhood‐onset cerebellar ataxia, peripheral neuropathy, and pyramidal tract signs. A Finnish family with milder form of ARSACS was found to harbor three mutations, p.E1100K, p.N1489S, and p.M1359T,...

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Detalles Bibliográficos
Autores principales: Palmio, Johanna, Kärppä, Mikko, Baumann, Peter, Penttilä, Sini, Moilanen, Jukka, Udd, Bjarne
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2016
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5134137/
https://www.ncbi.nlm.nih.gov/pubmed/27980752
http://dx.doi.org/10.1002/ccr3.722
Descripción
Sumario:Autosomal recessive spastic ataxia of Charlevoix‐Saguenay is a rare disorder outside Quebec causing childhood‐onset cerebellar ataxia, peripheral neuropathy, and pyramidal tract signs. A Finnish family with milder form of ARSACS was found to harbor three mutations, p.E1100K, p.N1489S, and p.M1359T, in SACS gene. The mutations segregated with the disease.

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