Genetic analysis in families with neurological disease

National Institute On Aging

Investigators

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Abstract

Our current efforts revolve around exome and whole genome 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. Over the last period this work has resulted in the assessment of known loci in new families. These families have included those with varied forms of ataxia, young-onset Parkinson disease, and essential tremor. We continue to expand our efforts analyzing a large series of patients with familial forms of cerebellar ataxia. In addition we are extending our work to examine the genetic basis of essential tremor in a series of patients and families from the US, Germany, and Spain.