Genetic analysis in families with neurological disease

$489,703ZIAFY2012AGNIH

National Institute On Aging

Investigators

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Abstract

In the last year we have identified an additional cause of an atypical form of BVVL (in preparation). 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 (in press). 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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