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Familial Alzheimer Dementia: a prevalent disorder with specific clinical features
John C.S. Breitner, Marshal F. Folstein. Psychological Medicine, 1984-02-01
Topic: Amyloid, tau and blood-test diagnosis
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.
Key findings
- 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.
- 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.
Why it matters
This older study found that language disorder and apraxia were common in Alzheimer's dementia and predicted familial aggregation of dementia, suggesting a distinct clinical entity called Familial Alzheimer Dementia. It addresses clinical identification and family risk, not treatment, cure, or prevention.
Study details
- Evidence strengthLow
How this study scored 42/100
Published in a peer-reviewed journal. Scored zero for study design, sample size, effect reported, studied in people and randomised / blinded because the record does not state it.
| Component | Points | Why |
|---|---|---|
| Journal tier | 7 / 10 | Tier 3 — peer-reviewed journal (Psychological Medicine) |
| Journal's citation record | 3 / 4 | Psychological Medicine: journal h-index 331 (OpenAlex, 2026-10-29) |
| Study design | 0 / 12 | No study design recorded — scores zero, not guessed (not stated in the record — scored 0) |
| Strength of evidence | 1 / 5 | Rated “low” in our summary |
| Peer-review validation | 10 / 10 | Peer-reviewed. Published as an article in a named peer-reviewed journal. |
| How recent | 1 / 5 | 1984 — older than 20 years, still counted |
| Sample size | 0 / 4 | Participant count not stated — scores zero (not stated in the record — scored 0) |
| Effect reported | 0 / 3 | No effect size reported — scores zero (not stated in the record — scored 0) |
| Studied in people | 0 / 3 | Not stated whether this was studied in people — scores zero (not stated in the record — scored 0) |
| Randomised / blinded | 0 / 2 | No randomisation or blinding stated — scores zero (not stated in the record — scored 0) |
| Times cited | 5 / 7 | Cited 244 times (OpenAlex, 2026-10-10) |
| Citations per year | 2 / 5 | 5.5 citations a year over 44 year(s) since 1984 |
| Impact for its field and year | 4 / 6 | Cited 18.3× the average for papers of its field and year (OpenAlex FWCI) |
| Cited by studies here | 2 / 6 | Cited by 4 other studies in this library |
| Still being cited | 0 / 4 | Cited 1 times in 2024–2026 (2026 still in progress; OpenAlex) |
| Senior author's track record | 3 / 4 | Last-listed author Marshal F. Folstein: h-index 62 (OpenAlex, whole career) |
| Institution's track record | 2 / 3 | Johns Hopkins University: institution h-index 2,306 (OpenAlex) |
| Multi-centre collaboration | 0 / 3 | OpenAlex lists 1 institution(s) in 1 country — scores zero (affiliation lists can be incomplete) |
| Indexed in PubMed | 2 / 2 | Indexed in PubMed (PMID 6200894) |
| Free to read | 0 / 2 | Behind a paywall — scores zero |
| Total | 42 / 100 | — |
What each of these 20 components measures, and what this score is not →
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Cite this study APA, Vancouver, BibTeX · download .bib or .ris
Built from the record alzhub holds for this paper, not looked up. Volume, issue and page numbers are not held in the record. Check the citation against the original before you use it.
APA 7th
Breitner, J. C., & Folstein, M. F. (1984). Familial Alzheimer Dementia: a prevalent disorder with specific clinical features. Psychological Medicine. https://doi.org/10.1017/s0033291700003081
Vancouver
Breitner JC, Folstein MF. Familial Alzheimer Dementia: a prevalent disorder with specific clinical features. Psychological Medicine. 1984. doi:10.1017/s0033291700003081. PMID: 6200894.
BibTeX
@article{breitner1984-6200894,
author = {Breitner, John C.S. and Folstein, Marshal F.},
title = {{Familial Alzheimer Dementia: a prevalent disorder with specific clinical features}},
journal = {Psychological Medicine},
year = {1984},
doi = {10.1017/s0033291700003081},
pmid = {6200894},
url = {https://doi.org/10.1017/s0033291700003081}
}
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