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Phenotypic variation in a large Swedish pedigree due to SNCA duplication and triplication
Fuchs J, Nilsson C, Kachergus J, Munz M, Larsson EM, Schüle B, Langston JW, Middleton FA et al.. Neurology, 2007-01-24
Topic: Brain proteins, microglia and lab models
Background The "Lister family complex," an extensive Swedish family with autosomal dominant Parkinson disease, was first described by Henry Mjönes in 1949. On the basis of clinical, molecular, and genealogic findings on a Swedish and an American family branch, we provide genetic evidence that explains the parkinsonism in this extended pedigree. Methods Clinical methods included a detailed neurologic exam of the proband of the Swedish family branch, MRI, and ([123]I)-beta-CIT SPECT imaging.
Key findings
- On the basis of clinical, molecular, and genealogic findings on a Swedish and an American family branch, we provide genetic evidence that explains the parkinsonism in this extended pedigree.
- Methods Clinical methods included a detailed neurologic exam of the proband of the Swedish family branch, MRI, and ([123]I)-beta-CIT SPECT imaging.
- Genomic analysis included alpha-synuclein sequencing, SNCA real-time PCR dosage, chromosome 4q21 microsatellite analysis, and high-resolution microarray genotyping.
- The geographic origin and ancestral genealogy of each pedigree were researched in the medical literature and Swedish Parish records.
Why it matters
This study of a large Swedish family with autosomal dominant Parkinson disease found SNCA duplication and triplication as the genetic cause of parkinsonism in the pedigree. It is about Parkinson disease genetics and does not address treating, curing, or preventing Alzheimer's disease.
Study details
- Evidence strengthLow
How this study scored 52/100
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.
| Component | Points | Why |
|---|---|---|
| Journal tier | 9 / 10 | Tier 2 — leading specialty journal (Neurology) |
| Journal's citation record | 4 / 4 | Neurology: journal h-index 525 (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 | 2007 — within 20 year(s) of the newest study here |
| 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 | 6 / 7 | Cited 398 times (OpenAlex, 2026-10-10) |
| Citations per year | 3 / 5 | 19.0 citations a year over 21 year(s) since 2007 |
| Impact for its field and year | 4 / 6 | Cited 18.7× the average for papers of its field and year (OpenAlex FWCI) |
| Cited by studies here | 2 / 6 | Cited by 8 other studies in this library |
| Still being cited | 2 / 4 | Cited 31 times in 2024–2026 (2026 still in progress; OpenAlex) |
| Senior author's track record | 4 / 4 | Last-listed author Matthew James Farrer: h-index 102 (OpenAlex, whole career) |
| Institution's track record | 2 / 3 | Mayo Clinic: institution h-index 1,606 (OpenAlex) |
| Multi-centre collaboration | 2 / 3 | OpenAlex lists 4 institution(s) in 3 countries |
| Indexed in PubMed | 2 / 2 | Indexed in PubMed (PMID 17251522) |
| Free to read | 0 / 2 | Behind a paywall — scores zero |
| Total | 52 / 100 | — |
What each of these 20 components measures, and what this score is not →
Read the original
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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. The record's author list ends in “et al.”, so not every author is named. Check the citation against the original before you use it.
APA 7th
Fuchs, J., Nilsson, C., Kachergus, J., Munz, M., Larsson, E. M., Schüle, B., et al. (2007). Phenotypic variation in a large Swedish pedigree due to SNCA duplication and triplication. Neurology. https://doi.org/10.1212/01.wnl.0000254458.17630.c5
Vancouver
Fuchs J, Nilsson C, Kachergus J, Munz M, Larsson EM, Schüle B, et al. Phenotypic variation in a large Swedish pedigree due to SNCA duplication and triplication. Neurology. 2007. doi:10.1212/01.wnl.0000254458.17630.c5. PMID: 17251522.
BibTeX
@article{fuchs2007-17251522,
author = {Fuchs, J. and Nilsson, C. and Kachergus, J. and Munz, M. and Larsson, E. M. and Schüle, B. and Langston, J. W. and Middleton, F. A. and others},
title = {{Phenotypic variation in a large Swedish pedigree due to SNCA duplication and triplication}},
journal = {Neurology},
year = {2007},
doi = {10.1212/01.wnl.0000254458.17630.c5},
pmid = {17251522},
url = {https://doi.org/10.1212/01.wnl.0000254458.17630.c5}
}
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