Article
Severer phenotype in Unverricht-Lundborg disease (EPM1) patients compound heterozygous for the dodecamer repeat expansion and the c.202C>T mutation in the CSTB gene.
Neuro-degenerative diseases - 1 Jan 2011
Koskenkorva Päivi, Hyppönen Jelena, Aikiä Marja, Mervaala Esa, Kiviranta Tuula, Eriksson Kai, Lehesjoki Anna-Elina, Vanninen Ritva, Kälviäinen Reetta
Abstract excerpt
BACKGROUND/AIMS: Unverricht-Lundborg disease (EPM1) is caused by mutations in the cystatin B (CSTB) gene. Most patients are homozygous for the expanded dodecamer repeat mutation alleles, but 9 other EPM1-associated mutations have also been identified. We describe the clinical, cognitive and imaging characteristics of 5 Finnish EPM1 patients who are compound heterozygous for the dodecamer repeat expansion and the...
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