Geriatric neurogenetics: oxymoron or reality?
Arch Neurol
; 65(4): 537-9, 2008 Apr.
Article
em En
| MEDLINE
| ID: mdl-18413479
ABSTRACT
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 OUTCOMEMEASURES:
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.
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Doenças do Sistema Nervoso Central
/
Testes Genéticos
/
Doenças Neurodegenerativas
/
Doenças Genéticas Inatas
Idioma:
En
Ano de publicação:
2008
Tipo de documento:
Article