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Autosomal dominant cerebellar phenotypes
Roger N. Rosenberg. Neurology, 1995-01-01
Topic: Genetics and APOE
The dominantly inherited ataxias comprise a series of clinical phenotypes that include ataxia, dysarthria, dysmetria, and intention tremor resulting from the involvement of the cerebellum and its afferent and efferent pathways. These inherited ataxias occur commonly throughout the world and represent an area of intense neurologic research. Although the clinical manifestations and neuropathologic findings of cerebellar disease are predominant, there may be characteristic changes in the basal ganglia, brainstem, spinal cord, optic nerves, retina, and peripheral nerve. In large families with dominantly inherited disease, there are many gradations, from pure cerebellar manifestations to mixed cerebellar and brainstem disorders, cerebellar and basal ganglia syndromes, and spinal cord or peripheral nerve disease. Rarely, dementia may be present as well. The clinical picture may be consistent within a family with dominantly inherited ataxia, but on occasion there is a characteristic syndrome in the majority of affected family members and an entirely different phenotype in one or several members. For these reasons, I suggested in 1990 [1] that for the autosomal dominant phenotypes, the genotype would be required to settle the issue of disease assignment and classification. Neurologists have written extensively as to the appropriateness of various classifications and have debated, often passionately at meetings, the uniqueness and placement of newly evaluated families with inherited cerebellar disease. Categories of disease abound, therein satisfying the needs of selective investigators to be either unifiers or splitters, often based on quite arbitrary factors [1]. Scholarly, yet divergent, classifications of dominantly inherited syndromes have been formulated by Greenfield, [2] Konigsmark and Weiner, [3] Harding, [4] and the World Federation of Neurology Study Group on Cerebellar Ataxias (unpublished, 1993). Harding [4] separates the autosomal dominant cerebellar ataxias (ADCAs) into type I and type II, in which ataxia is combined to a varying degree with pyramidal and extrapyramidal signs …
Key findings
- For these reasons, I suggested in 1990 [1] that for the autosomal dominant phenotypes, the genotype would be required to settle the issue of disease assignment and classification.
- Neurologists have written extensively as to the appropriateness of various classifications and have debated, often passionately at meetings, the uniqueness and placement of newly evaluated families with inherited cerebellar disease.
- Categories of disease abound, therein satisfying the needs of selective investigators to be either unifiers or splitters, often based on quite arbitrary factors [1].
- Scholarly, yet divergent, classifications of dominantly inherited syndromes have been formulated by Greenfield, [2] Konigsmark and Weiner, [3] Harding, [4] and the World Federation of Neurology Study Group on Cerebellar Ataxias (unpublished, 1993).
- Harding [4] separates the autosomal dominant cerebellar ataxias (ADCAs) into type I and type II, in which ataxia is combined to a varying degree with pyramidal and extrapyramidal signs …
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Study details
- Evidence strengthLow
How this study scored 40/100
Published in a leading specialty journal. Scored zero for study design, sample size, effect reported, studied in people and randomised / blinded because the record does not state it. We have no data on journal's citation record, times cited, citations per year, impact for its field and year, cited by studies here, still being cited, senior author's track record, institution's track record and multi-centre collaboration, so those were left out: it earned 23 of the 58 points we could judge it on, which is 40 out of 100.
| Component | Points | Why |
|---|---|---|
| Journal tier | 9 / 10 | Tier 2 — leading specialty journal (Neurology) |
| Journal's citation record | — / 4 | No journal record from OpenAlex — left out of this score |
| 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 | 1995 — 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 | — / 7 | No citation count (not found in OpenAlex) — left out of this score |
| Citations per year | — / 5 | No citation count or no year — left out of this score |
| Impact for its field and year | — / 6 | No field-weighted citation impact (OpenAlex has none yet) — left out of this score |
| Cited by studies here | — / 6 | Not yet checked against this library's citation graph — left out of this score |
| Still being cited | — / 4 | No yearly citation counts — left out of this score |
| Senior author's track record | — / 4 | Senior author's record not available — left out of this score |
| Institution's track record | — / 3 | No institution listed in OpenAlex — left out of this score |
| Multi-centre collaboration | — / 3 | Institutions not listed — left out of this score |
| Indexed in PubMed | 2 / 2 | Indexed in PubMed (PMID 7824096) |
| Free to read | 0 / 2 | Behind a paywall — scores zero |
| Points | 23 / 58 | Scored on 11 of 20 parts. We have no data for the rest, so they are left out: 23 of the 58 points we could judge it on is 40 out of 100. |
| Total | 40 / 100 | — |
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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
Rosenberg, R. N. (1995). Autosomal dominant cerebellar phenotypes. Neurology. https://doi.org/10.1212/wnl.45.1.1
Vancouver
Rosenberg RN. Autosomal dominant cerebellar phenotypes. Neurology. 1995. doi:10.1212/wnl.45.1.1. PMID: 7824096.
BibTeX
@article{rosenberg1995-7824096,
author = {Rosenberg, Roger N.},
title = {{Autosomal dominant cerebellar phenotypes}},
journal = {Neurology},
year = {1995},
doi = {10.1212/wnl.45.1.1},
pmid = {7824096},
url = {https://doi.org/10.1212/wnl.45.1.1}
}
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