SYNE1-ataxia: Novel genotypic and phenotypic findings
SYNE1 encodes nesprin-1, a scaffold protein which is involved in the binding between cytoskeleton, nuclear envelope and other subcellular compartments. In 2007, recessive truncating SYNE1 mutations have been linked to a genetic form of pure cerebellar ataxia with adult onset and mild phenotype. Subsequent reports described a number of patients with SYNE1-ataxia and widespread neurological involvement including features of motor neuron disease. Recently, heterozygote missense SYNE1 mutations have been associated with muscular disorders, such as Emery-Dreifuss muscular dystrophy, arthrogryposis multiplex congenita and dilated cardiomyopathy.
Source: Parkinsonism and Related Disorders - Category: Neurology Authors: Elisabetta Indelicato, Wolfgang Nachbauer, Christine Fauth, Birgit Krabichler, Anna Schossig, Andreas Eigentler, Wolfgang Dichtl, Gregor Wenning, Michaela Wagner, Alessandra Fanciulli, Andreas Janecke, Sylvia Boesch Tags: Short communication Source Type: research
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