Genetic analysis in families with neurological disease

$554,462ZIAFY2015AGNIH

National Institute On Aging

Investigators

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Abstract

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. We have identified a list of 5 genes for ataxia and are currently working on replication of these in a large cohort of cases collected from France and UK. We have also been working on identifying novel genetic causes of monogenic forms of early onset Parkinson's disease, and have identified a novel gene that causes autosomal recessive Parkinson's disease.

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