Genetic analysis in families with neurological disease

National Institute On Aging

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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 identification of several causes of monogenic forms of disease and the assessment of known loci in new families. These families have included those with varied forms of ataxia, for which we have identified candidate genes and known genes, patients with atypical dementia, and patients with hereditary spastic paraplegia. We are currently expanding our efforts analyzing a large series of patients with familial forms of cerebellar ataxia.