Geriatric neurogenetics: oxymoron or reality?

[Guest guest]

Arch Neurol. 2008 Apr;65(4):537-9.

Geriatric neurogenetics: oxymoron or reality?

Bird TD, Lipe HP, Steinbart EJ.

Geriatric Research Education Clinical Center, VA Puget Sound Health

Care System, 1660 S Columbian Way, S-182-GRECC, Seattle, WA 98108,

USA.

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.