Geriatric neurogenetics: oxymoron or reality?
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.


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


METHODS
Academic university and Veterans Affairs medical centers.


METHODS
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.


METHODS
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.
Bird
Thomas D
TD
Geriatric Research Education Clinical Center, VA Puget Sound Health Care System, 1660 S Columbian Way, S-182-GRECC, Seattle, WA 98108, USA. tomnroz@u.washington.edu
Lipe
Hillary P
HP
Steinbart
Ellen J
EJ
D000369:Aged, 80 and over; D000544:Alzheimer Disease / Q000175:diagnosis / Q000235:genetics; D002493:Central Nervous System Diseases / Q000175:diagnosis / Q000235:genetics*; D002607:Charcot-Marie-Tooth Disease / Q000175:diagnosis / Q000235:genetics; D004252:DNA Mutational Analysis; D003937:Diagnosis, Differential; D005260:Female; D030342:Genetic Diseases, Inborn / Q000175:diagnosis / Q000235:genetics*; D005820:Genetic Testing; D006801:Humans; D006816:Huntington Disease / Q000175:diagnosis / Q000235:genetics; D008297:Male; D049288:Muscular Dystrophies, Limb-Girdle / Q000175:diagnosis / Q000235:genetics; D019636:Neurodegenerative Diseases / Q000175:diagnosis / Q000235:genetics*; D009460:Neurologic Examination; D020754:Spinocerebellar Ataxias / Q000175:diagnosis / Q000235:genetics