Unverricht-Lundborg disease: Homozygosity for a new splicing mutation in the cystatin B gene

AJD and DR are both recipients of FCT grants.Unverricht-Lundborg disease is the most common form of progressive myoclonic epilepsy (PME). It is due to cystatin B gene (CSTB) mutations. Several mutations in CSTB gene have been published, but few in homozygosity. We describe a patient with a new splicing alteration. Mutation Gln22Gln leads to abnormal splicing and partial inclusion of intronic sequence. This is one of the few cases of homozygosity for a non-classic mutation and adds to mutational heterogeneity of CSTB.This work was financially supported by National Funds through FCT - Fundação da Ciência e Tecnologia (MCTES – Portugal) under Project «PIC/IC/82822/2007»