We have identified and published an additional cause of an atypical form of BVVL. In addition we have identified a known SCA mutation causing SCA14. We have in addition, identified the cause of recessive forms of ataxia in 8 in bred families, and this work has revealed 2 novel genetic loci and mutations for this disease, including GBA2 mutations as a cause of this disease. Our current efforts revolve around exome sequencing within families with neurological disease;this is primarily centered on young onset, and probably autosomal recessive, forms of common neurological diseases, with a focus on Parkinson's disease, Alzheimer's disease, frontotemporal dementia, atypical dementias, and ataxias.

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National Institute on Aging (NIA)
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Agler, Caryline; Nielsen, Dahlia M; Urkasemsin, Ganokon et al. (2014) Canine hereditary ataxia in old english sheepdogs and gordon setters is associated with a defect in the autophagy gene encoding RAB24. PLoS Genet 10:e1003991
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Simon-Sanchez, Javier; Singleton, Andrew B (2008) Sequencing analysis of OMI/HTRA2 shows previously reported pathogenic mutations in neurologically normal controls. Hum Mol Genet 17:1988-93
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