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Familial idiopathic cerebral calcifications
Boller F, Boller M, Gilbert J.. Journal of neurology, neurosurgery, and psychiatry, 1977-03-01
Topic: Risk, prevention and care in population studies
Nine members of a family spanning three generations showed bilateral calcifications of the basal ganglia with autosomal dominant inheritance. Two members developed chorea, dementia, and a characteristic speech disturbance (palialalia) in the third or fourth decade. A third member possibly shows the initial stage of a similar syndrome. Six members with calcifications but without neurological signs are younger than 25 years. All nine patients had normal calcium and phosphorus, and no evidence of endocrinological or somatic abnormalities. Thie 'isiopathic' picture must be differentiated from hypoparathyroidism and pseudohypoparathyroidism.
Key findings
- Two members developed chorea, dementia, and a characteristic speech disturbance (palialalia) in the third or fourth decade.
- A third member possibly shows the initial stage of a similar syndrome.
- Six members with calcifications but without neurological signs are younger than 25 years.
- All nine patients had normal calcium and phosphorus, and no evidence of endocrinological or somatic abnormalities.
- Thie 'isiopathic' picture must be differentiated from hypoparathyroidism and pseudohypoparathyroidism.
Why it matters
In one family, some members with bilateral basal ganglia calcifications developed chorea, dementia, and speech disturbance in the third or fourth decade. This is a rare inherited condition distinct from Alzheimer's disease, and the study does not address treating, curing, or preventing Alzheimer's disease.
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Study details
- Evidence strengthLow
How this study scored 39/100
Published in a peer-reviewed journal. Scored zero for study design, sample size, effect reported and randomised / blinded because the record does not state it. We have no data on senior author's track record, so that was left out: it earned 37 of the 96 points we could judge it on, which is 39 out of 100.
| Component | Points | Why |
|---|---|---|
| Journal tier | 7 / 10 | Tier 3 — peer-reviewed journal (Journal of neurology, neurosurgery, and psychiatry) |
| Journal's citation record | 3 / 4 | Journal of Neurology Neurosurgery & Psychiatry: journal h-index 336 (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 | 1977 — 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 | 3 / 3 | Studied in people (pubmed indexes it as a clinical or observational study) |
| Randomised / blinded | 0 / 2 | No randomisation or blinding stated — scores zero (not stated in the record — scored 0) |
| Times cited | 4 / 7 | Cited 88 times (OpenAlex, 2026-10-10) |
| Citations per year | 1 / 5 | 1.7 citations a year over 51 year(s) since 1977 |
| Impact for its field and year | 2 / 6 | Cited 1.5× the average for papers of its field and year (OpenAlex FWCI) |
| Cited by studies here | 0 / 6 | No other study in this library cites it |
| Still being cited | 1 / 4 | Cited 3 times in 2024–2026 (2026 still in progress; OpenAlex) |
| Senior author's track record | — / 4 | Senior author's record not available — left out of this score |
| Institution's track record | 1 / 3 | Boston University: institution h-index 1,456 (OpenAlex) |
| Multi-centre collaboration | 1 / 3 | OpenAlex lists 3 institution(s) in 1 country |
| Indexed in PubMed | 2 / 2 | Indexed in PubMed (PMID 886353) |
| Free to read | 0 / 2 | Behind a paywall — scores zero |
| Points | 37 / 96 | Scored on 19 of 20 parts. We have no data for the rest, so they are left out: 37 of the 96 points we could judge it on is 39 out of 100. |
| Total | 39 / 100 | — |
What each of these 20 components measures, and what this score is not →
Read the original
- DOI: 10.1136/jnnp.40.3.280
- PubMed: 886353
- Original source →
- Free full text: Journal of Neurology Neurosurgery & Psychiatry →
Full text: free to read — OpenAlex lists this copy as free to read: the link above (checked 6 Feb 1020).
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
Boller, F., Boller, M., & Gilbert, J. (1977). Familial idiopathic cerebral calcifications. Journal of neurology, neurosurgery, and psychiatry. https://doi.org/10.1136/jnnp.40.3.280
Vancouver
Boller F, Boller M, Gilbert J. Familial idiopathic cerebral calcifications. Journal of neurology, neurosurgery, and psychiatry. 1977. doi:10.1136/jnnp.40.3.280. PMID: 886353.
BibTeX
@article{boller1977-886353,
author = {Boller, F. and Boller, M. and Gilbert, J.},
title = {{Familial idiopathic cerebral calcifications}},
journal = {Journal of neurology, neurosurgery, and psychiatry},
year = {1977},
doi = {10.1136/jnnp.40.3.280},
pmid = {886353},
url = {https://doi.org/10.1136/jnnp.40.3.280}
}
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