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Familial Alzheimer disease: a large, multigeneration German kindred
Frommelt P, Schnabel R, Kühne W, Nee LE, Polinsky RJ.. Alzheimer disease and associated disorders, 1991-01-01
Topic: Amyloid, tau and blood-test diagnosis
A German family with 21 members affected by Alzheimer disease (AD) was studied clinically and genetically. The diagnosis was histologically verified in three affected family members. Ancestors were traced through seven generations to a couple residing in East-Westfalia during the middle of the 19th century. Dementia was often accompanied by extrapyramidal features and myoclonus. No cases of Down syndrome or hematologic malignancy occurred in this family. Clinical manifestations, temporal progression, neurological testing, and neuropathological features do not differ from the more common sporadic form of AD. The inheritance pattern is most consistent with autosomal-dominant transmission.
Cite this study APA, Vancouver, BibTeX · download .bib or .ris
APA 7th
Frommelt, P., Schnabel, R., Kühne, W., Nee, L. E., & Polinsky, R. J. (1991). Familial Alzheimer disease: a large, multigeneration German kindred. Alzheimer disease and associated disorders. https://doi.org/10.1097/00002093-199100510-00005
Vancouver
Frommelt P, Schnabel R, Kühne W, Nee LE, Polinsky RJ. Familial Alzheimer disease: a large, multigeneration German kindred. Alzheimer disease and associated disorders. 1991. doi:10.1097/00002093-199100510-00005. PMID: 2025423.
BibTeX
@article{frommelt1991-2025423,
author = {Frommelt, P. and Schnabel, R. and Kühne, W. and Nee, L. E. and Polinsky, R. J.},
title = {{Familial Alzheimer disease: a large, multigeneration German kindred}},
journal = {Alzheimer disease and associated disorders},
year = {1991},
doi = {10.1097/00002093-199100510-00005},
pmid = {2025423},
url = {https://doi.org/10.1097/00002093-199100510-00005}
}
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Key findings
- Ancestors were traced through seven generations to a couple residing in East-Westfalia during the middle of the 19th century.
- Dementia was often accompanied by extrapyramidal features and myoclonus.
- No cases of Down syndrome or hematologic malignancy occurred in this family.
- Clinical manifestations, temporal progression, neurological testing, and neuropathological features do not differ from the more common sporadic form of AD.
- The inheritance pattern is most consistent with autosomal-dominant transmission.
Why it matters
This family's dementia looked the same as the common sporadic form of Alzheimer's disease, but the pattern of inheritance was most consistent with autosomal-dominant transmission. It supports the idea that some Alzheimer's disease runs in families, but it does not test any treatment, cure, or prevention.
Study details
- Evidence strengthLow
How this study scored 32/100
Published in a peer-reviewed journal. Scored zero for study design, sample size, effect reported, studied in people and randomized / blinded because the record does not state it.
| Component | Points | Why |
|---|---|---|
| Journal tier | 7 / 10 | Tier 3 — peer-reviewed journal (Alzheimer disease and associated disorders) |
| Journal's citation record | 1 / 4 | Alzheimer Disease & Associated Disorders: journal h-index 131 (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 | 1991 — 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) |
| Randomized / blinded | 0 / 2 | No randomization or blinding stated — scores zero (not stated in the record — scored 0) |
| Times cited | 3 / 7 | Cited 29 times (OpenAlex, 2026-10-10) |
| Citations per year | 0 / 5 | 0.8 citations a year over 37 year(s) since 1991 |
| Impact for its field and year | 1 / 6 | Cited 0.5× 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 0 times in 2024–2026 (2026 still in progress; OpenAlex) |
| Senior author's track record | 2 / 4 | Last-listed author Ronald J. Polinsky: h-index 35 (OpenAlex, whole career) |
| Institution's track record | 1 / 3 | National Institute of Neurological Disorders and Stroke: institution h-index 777 (OpenAlex) |
| Multicenter collaboration | 1 / 3 | OpenAlex lists 2 institution(s) in 2 countries |
| Indexed in PubMed | 2 / 2 | Indexed in PubMed (PMID 2025423) |
| Free to read | 0 / 2 | Behind a paywall — scores zero |
| Total | 32 / 100 | — |
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