The identification of gene mutations causing disease lends new insight into the pathogenesis and etiology of the disorder under examination. The past year has been incredibly successful for the Laboratory of Neurogenetics in terms of disease gene identification. Our identification of mutation at ITPR1 as the cause of SCA15 was expanded upon by us and others, defining other families with ataxia and mutation at this locus, and the relevance of this work was further bolstered by the observation by others that SCA16, formerly thought to be distinct from SCA15 is actually allelic, something we predicted in our original cloning paper. Also in ataxia, we identified with our collaborators, the genetic mutation underlying SCA11, which turned out to be mutation of the gene TTBK2, implicated in the phosphorylation of microtubule protein tau, a protein central to several forms of neurodegenerative disease. Most recently our work describing the mutation underlying SCA20 has been accepted for publication; this work shows clearly that in the only family described to date, the disease is associated with a large genomic duplication.? In the field of parkinsonism and dystonia we made two findings, in the first we identified a novel locus for dystonia parkinsonism and describe a disease segregating mutation in the gene PRKRA; in the second we show that mutation in PLA2G6, previously associated with a distinct neurodegeneration with brain iron accumulation, can cause a form of dystonia parkinsonism.
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