Thomas D Bird1, Hillary P Lipe, Ellen J Steinbart. 1. 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
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 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.
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 1familial 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.
Authors: H Rauschka; B Colsch; N Baumann; R Wevers; M Schmidbauer; M Krammer; J-C Turpin; M Lefevre; C Olivier; S Tardieu; W Krivit; H Moser; A Moser; V Gieselmann; B Zalc; T Cox; U Reuner; A Tylki-Szymanska; F Aboul-Enein; E LeGuern; H Bernheimer; J Berger Journal: Neurology Date: 2006-09-12 Impact factor: 9.910
Authors: D-H Chen; P J Cimino; L P W Ranum; H Y Zoghbi; I Yabe; L Schut; R L Margolis; H P Lipe; A Feleke; M Matsushita; J Wolff; C Morgan; D Lau; M Fernandez; H Sasaki; W H Raskind; T D Bird Journal: Neurology Date: 2005-04-12 Impact factor: 9.910
Authors: Yoshio Ikeda; Katherine A Dick; Marcy R Weatherspoon; Dan Gincel; Karen R Armbrust; Joline C Dalton; Giovanni Stevanin; Alexandra Dürr; Christine Zühlke; Katrin Bürk; H Brent Clark; Alexis Brice; Jeffrey D Rothstein; Lawrence J Schut; John W Day; Laura P W Ranum Journal: Nat Genet Date: 2006-01-22 Impact factor: 38.330
Authors: C L Bennett; V H Lawson; K L Brickell; K Isaacs; W Seltzer; H P Lipe; M D Weiss; G T Carter; K M Flanigan; P F Chance; T D Bird Journal: Neurology Date: 2008-05-21 Impact factor: 9.910
Authors: Kiri L Brickell; James B Leverenz; Ellen J Steinbart; Malia Rumbaugh; Gerard D Schellenberg; David Nochlin; Thomas H Lampe; Ida E Holm; Vivianna Van Deerlin; Wuxing Yuan; Thomas D Bird Journal: J Neurol Neurosurg Psychiatry Date: 2007-07-05 Impact factor: 10.154