Clinical features and genetic characterization of two dizygotic twins with intermediate C9orf72 expansion

To present a detailed clinical, genetic, and epigenetic characterization of two ALS concordant dizygotic (DZ) twins. The described cases underwent clinical and paraclinical examinations according to the motor neuron disease protocol of our referral center. Mutation analysis of the major causative genes related to ALS was performed. The methylation profile of the CpG-island located in the promoter region of C9orf72 and in the repeat region itself was investigated by bisulfite sequencing of C9orf72 expansion carriers.
Source: Neurobiology of Aging - Category: Neuroscience Authors: Source Type: research