TY - JOUR
T1 - Familial Alzheimer Dementia
T2 - A prevalent disorder with specific clinical features
AU - Breitner, John C.S.
AU - Folstein, Marshal F.
N1 - Funding Information:
This research was supported by: allocations from the Institutional Research Grants Committees, Baltimore City Hospitals and The Johns Hopkins University School of Medicine; Baltimore Huntingdon Disease Center Without Walls, NINCDS No. 16375; The T. Rowe and Eleanor Price Foundation; and The Alzheimer Disease Gift Fund of the Johns Hopkins Medical Institutions.
PY - 1984/2
Y1 - 1984/2
N2 - The early literature on Alzheimer Dementia (AD) describes the clinical features aphasia, apraxia and agraphia as characteristic. We investigated the hypothesis that these features would specifically identify the familial form of AD (FAD). Since pedigree studies had suggested that FAD is an autosomal dominant genetic disorder, we hypothesized that the first-degree relatives of language-disordered or apractic AD probands would show at least 50% lifetime risks of dementia. Using standardized methods, we screened 3500 nursing home beds for stringently defined AD cases and controls, tested for agraphia, and obtained probands’ clinical and family histories from multiple informants. Language disorder and apraxia were found in 78% of AD cases. They strongly predicted familial aggregation of dementia, with a 90-year lifetime incidence among relatives exceeding 50%, or 7 times the control values. The results suggest that language disorder and apraxia specifically identify a distinct clinical entity, Familial Alzheimer Dementia, that is among the commonest forms of senile dementia.
AB - The early literature on Alzheimer Dementia (AD) describes the clinical features aphasia, apraxia and agraphia as characteristic. We investigated the hypothesis that these features would specifically identify the familial form of AD (FAD). Since pedigree studies had suggested that FAD is an autosomal dominant genetic disorder, we hypothesized that the first-degree relatives of language-disordered or apractic AD probands would show at least 50% lifetime risks of dementia. Using standardized methods, we screened 3500 nursing home beds for stringently defined AD cases and controls, tested for agraphia, and obtained probands’ clinical and family histories from multiple informants. Language disorder and apraxia were found in 78% of AD cases. They strongly predicted familial aggregation of dementia, with a 90-year lifetime incidence among relatives exceeding 50%, or 7 times the control values. The results suggest that language disorder and apraxia specifically identify a distinct clinical entity, Familial Alzheimer Dementia, that is among the commonest forms of senile dementia.
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U2 - 10.1017/S0033291700003081
DO - 10.1017/S0033291700003081
M3 - Article
C2 - 6200894
AN - SCOPUS:0021194571
SN - 0033-2917
VL - 14
SP - 63
EP - 80
JO - Psychological medicine
JF - Psychological medicine
IS - 1
ER -