Genetic analysis in families with neurological disease

$454,602ZIAFY2013AGNIH

National Institute On Aging

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Abstract

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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