Journal ArticleDOI
Alzheimer's disease: genetic aspects and associated clinical disorders.
Albert Heyman,William E. Wilkinson,Barrie J. Hurwitz,D Schmechel,A H Sigmon,Tina Weinberg,Michael J. Helms,M Swift +7 more
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TLDR
It is indicated that early‐onset Alzheimer's disease is associated with a genetic factor manifested in a substantial familial aggregation of dementia, a probable excess of Down's syndrome in the probands' relatives, and a possible association with thyroid dysfunction in women with this form of dementia.Abstract:
Genetic aspects and associated clinical disorders were studied in a consecutive series of 68 men and women in whom Alzheimer's disease appeared at or before age 70. Secondary cases of dementia were found in 17 (25%) of the families, affecting 22 of the probands' siblings and parents. The cumulative incidence of Alzheimer's disease in these relatives was approximately 14% at age 75. An increased frequency of Down's syndrome was observed among relatives of the probands: a rate of 3.6 per 1,000, as compared with an expected rate of 1.3 per 1,000. A history of thyroid disease was established in 9 (19.6%) of the 46 female probands, a frequency greater than that reported in the general population. There was no excess of hematological malignancies among the blood relatives, and parental age at the time of birth of the probands did not differ from the norm. The results of this study indicate that early-onset Alzheimer's disease is associated with a genetic factor manifested in a substantial familial aggregation of dementia, a probable excess of Down's syndrome in the probands' relatives, and a possible association with thyroid dysfunction in women with this form of dementia.read more
Citations
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Journal ArticleDOI
The genetic defect causing familial Alzheimer's disease maps on chromosome 21
Peter St George-Hyslop,Rudolph E. Tanzi,Ronald J. Polinsky,Jonathan Haines,Linda Nee,Paul C. Watkins,Richard H. Myers,Richard H. Myers,Robert G. Feldman,Daniel A. Pollen,David A. Drachman,John H. Growdon,Amalia C. Bruni,Jean-François Foncin,Denise Salmon,P. Frommelt,Luigi Amaducci,Sandro Sorbi,Silva Piacentini,Gordon Stewart,Wendy Hobbs,P. Michael Conneally,James F. Gusella +22 more
TL;DR: The chromosomal location of this defective gene has been discovered by using genetic linkage to DNA markers on chromosome 21 and provides an explanation for the occurrence of Alzheimer's disease-like pathology in Down syndrome.
Journal ArticleDOI
The Consortium to Establish a Registry for Alzheimer's Disease (CERAD). Part VI. Family history assessment: A multicenter study of first-degree relatives of Alzheimer's disease probands and nondemented spouse controls
Jeremy M. Silverman,K. Raiford,Steven D. Edland,Gerda G. Fillenbaum,John C. Morris,C. Clark,Walter A. Kukull,Albert Heyman +7 more
TL;DR: This is the first reported multicenter family-history study of AD, and it supports earlier reports of familial factors in AD and indicates a higher risk to female relatives of AD probands.
Journal ArticleDOI
A Prospective Study of Alzheimer Disease in Down Syndrome
Florence Lai,Roger S. Williams +1 more
TL;DR: The prevalence of dementia in the institutionalized Down syndrome population of the study was 8% between 35 and 49 years, 55% between 50 and 59 years, and 75% of those over 60 years old and of note, 41 (84%) demented individuals with Down syndrome developed seizures.
Journal ArticleDOI
Alzheimer's disease: A study of epidemiological aspects
Albert Heyman,William E. Wilkinson,Judith A. Stafford,Michael J. Helms,Alverta H. Sigmon,Tina Weinberg +5 more
TL;DR: There appeared to be no major premorbid demographic or clinical factors associated with this form of dementia, and there was evidence, however, of a genetic factor that was manifested in an excess of dementia and mental retardation in families of patients with Alzheimer's disease.
Journal ArticleDOI
Genetic evidence for a novel familial Alzheimer's disease locus on chromosome 14
P. St. George-Hyslop,Jonathan L. Haines,Evgeny I. Rogaev,Evgeny I. Rogaev,M. Mortilla,M. Mortilla,G. Vaula,G. Vaula,Margaret A. Pericak-Vance,J. F. Foncin,M.P. Montesi,Amalia C. Bruni,Sandro Sorbi,Innocenzo Rainero,Lorenzo Pinessi,Daniel A. Pollen,R. Polinsky,L. Nee,James L. Kennedy,Fabio Macciardi,Ekaterina Rogaeva,Yan Liang,N. Alexandrova,Walter J. Lukiw,Karen Schlumpf,Rudolph E. Tanzi,T. Tsuda,Lindsay A. Farrer,J. M. Cantu,Ranjan Duara,Luigi Amaducci,L. Bergamini,James F. Gusella,Allen D. Roses,D. R. Crapper McLachlan +34 more
TL;DR: Evidence is provided for a major early onset FAD locus on the long arm of chromosome 14 near the markers D14S43 and D 14S53 and it is suggested that the inheritance of FAD may be more complex than had initially been suspected.
References
More filters
Journal ArticleDOI
“Mini-mental state”: A practical method for grading the cognitive state of patients for the clinician
Marshal F. Folstein,Marshal F. Folstein,Susan E B Folstein,Susan E B Folstein,Paul R. McHugh,Paul R. McHugh +5 more
TL;DR: A simplified, scored form of the cognitive mental status examination, the “Mini-Mental State” (MMS) which includes eleven questions, requires only 5-10 min to administer, and is therefore practical to use serially and routinely.
A practical method for grading the cognitive state of patients for the clinician
TL;DR: The Mini-Mental State (MMS) as mentioned in this paper is a simplified version of the standard WAIS with eleven questions and requires only 5-10 min to administer, and is therefore practical to use serially and routinely.
Journal ArticleDOI
Design and analysis of randomized clinical trials requiring prolonged observation of each patient. II. analysis and examples.
Richard Peto,M.C. Pike,P. Armitage,N. E. Breslow,David Cox,S V Howard,N Mantel,Klim McPherson,Julian Peto,Pete Smith +9 more
TL;DR: Efficient methods of analysis of randomized clinical trials in which the authors wish to compare the duration of survival among different groups of patients are described.
Journal ArticleDOI
A new clinical scale for the staging of dementia.
TL;DR: The Clinical Dementia Rating (CRD) was developed for a prospective study of mild senile dementia—Alzheimer type (SDAT), and was found to distinguish unambiguously among older subjects with a wide range of cognitive function.
Journal ArticleDOI
The spectrum of thyroid disease in a community: the whickham survey
W.M.G. Tunbridge,D. C. Evered,Reginald Hall,D. Appleton,M Brewis,F. Clark,J G Evans,E. T. Young,T. Bird,P. A. Smith +9 more
TL;DR: TSH levels above 6 mu/1 were shown to reflect a significant lowering of circulating thyroxine levels and showed a strong association with thyroid antibodies in both sexes, independent of age.
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