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  Vol. 65 No. 4, April 2008 TABLE OF CONTENTS
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Geriatric Neurogenetics

Oxymoron or Reality?

Thomas D. Bird, MD; Hillary P. Lipe, ARNP; Ellen J. Steinbart, RN, MA

Arch Neurol. 2008;65(4):537-539.

Background  Primary genetic diseases are generally associated with pediatric and young adult populations. Little information is available about the occurrence of single-gene mendelian diseases in elderly populations.

Objective  To describe the occurrence of single-gene neurogenetic disorders in a group of elderly patients.

Design  Retrospective review of neurogenetic cases in an academic medical center.

Setting  Academic university and Veterans Affairs medical centers.

Patients  Eight elderly patients with single-gene neurogenetic diseases were studied. These patients included an 87-year-old man and an 85-year-old man with Huntington disease, an 84-year-old woman with limb-girdle muscular dystrophy type 2A, a 78-year-old man with spinocerebellar ataxia type 14, an 86-year-old man with spinocerebellar ataxia type 5, an 85-year-old man with a presenilin 1 familial Alzheimer disease mutation, an 87-year-old man with autosomal dominant hereditary neuropathy, and a 78-year-old man with spinocerebellar ataxia type 6. Three patients had no family history of neurologic disease.

Main Outcome Measures  Medical histories, physical examination results, and genetic testing results.

Conclusions  Single-gene mendelian neurogenetic diseases can be found in the oldest old population (> 85 years). Such cases are currently underrecognized and will become more commonly observed in the future. This phenomenon is a result of (1) the aging of the general population, (2) better recognition of the highly variable ages at onset of genetic diseases, and (3) the availability of specific DNA-based genetic testing.


Author Affiliations: Geriatric Research Education Clinical Center, VA Puget Sound Health Care System (Dr Bird and Ms Lipe), and Department of Neurology, University of Washington (Dr Bird and Ms Steinbart), Seattle.



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