Novel compound heterozygous mutation in SACS gene leads to a milder autosomal recessive spastic ataxia of Charlevoix-Saguenay, ARSACS, in a Finnish family
Palmio, Johanna; Kärppä, Mikko; Baumann, Peter; Penttilä, Sini; Moilanen, Jukka; Udd, Bjarne (2016)
Palmio, Johanna
Kärppä, Mikko
Baumann, Peter
Penttilä, Sini
Moilanen, Jukka
Udd, Bjarne
2016
Clinical Case Reports 4 12
1151-1156
Lääketieteen yksikkö - School of Medicine
Julkaisun pysyvä osoite on
https://urn.fi/URN:NBN:fi:uta-201612302916
https://urn.fi/URN:NBN:fi:uta-201612302916
Tiivistelmä
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.
Kokoelmat
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