Clinical and genetic characterization of leukoencephalopathies in adults
Lynch DS, Rodrigues Brandão de Paiva A, Zhang WJ, Bugiardini E, Freua F, Tavares Lucato L, Macedo-Souza LI, Lakshmanan R et al.. Brain : a journal of neurology, 2017-05-01
Topic: Brain proteins, microglia and lab models
Leukodystrophies and genetic leukoencephalopathies are a rare group of disorders leading to progressive degeneration of cerebral white matter. They are associated with a spectrum of clinical phenotypes dominated by dementia, psychiatric changes, movement disorders and upper motor neuron signs. Mutations in at least 60 genes can lead to leukoencephalopathy with often overlapping clinical and radiological presentations. For these reasons, patients with genetic leukoencephalopathies often endure a long diagnostic odyssey before receiving a definitive diagnosis or may receive no diagnosis at all. In this study, we used focused and whole exome sequencing to evaluate a cohort of undiagnosed adult patients referred to a specialist leukoencephalopathy service. In total, 100 patients were evaluated using focused exome sequencing of 6100 genes. We detected pathogenic or likely pathogenic variants in 26 cases. The most frequently mutated genes were NOTCH3, EIF2B5, AARS2 and CSF1R. We then carried out whole exome sequencing on the remaining negative cases including four family trios, but could not identify any further potentially disease-causing mutations, confirming the equivalence of focused and whole exome sequencing in the diagnosis of genetic leukoencephalopathies. Here we provide an overview of the clinical and genetic features of these disorders in adults.
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APA 7th
Lynch, D. S., Rodrigues Brandão de Paiva, A., Zhang, W. J., Bugiardini, E., Freua, F., Tavares Lucato, L., et al. (2017). Clinical and genetic characterization of leukoencephalopathies in adults. Brain : a journal of neurology. https://doi.org/10.1093/brain/awx045
Vancouver
Lynch DS, Rodrigues Brandão de Paiva A, Zhang WJ, Bugiardini E, Freua F, Tavares Lucato L, et al. Clinical and genetic characterization of leukoencephalopathies in adults. Brain : a journal of neurology. 2017. doi:10.1093/brain/awx045. PMID: 28334938.
BibTeX
@article{lynch2017-28334938,
author = {Lynch, D. S. and Rodrigues Brandão de Paiva, A. and Zhang, W. J. and Bugiardini, E. and Freua, F. and Tavares Lucato, L. and Macedo-Souza, L. I. and Lakshmanan, R. and others},
title = {{Clinical and genetic characterization of leukoencephalopathies in adults}},
journal = {Brain : a journal of neurology},
year = {2017},
doi = {10.1093/brain/awx045},
pmid = {28334938},
url = {https://doi.org/10.1093/brain/awx045}
}
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Key findings
- They are associated with a spectrum of clinical phenotypes dominated by dementia, psychiatric changes, movement disorders and upper motor neuron signs.
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Study details
- Participants100
- Evidence strengthModerate
How this study scored 57/100
Published in a leading specialty journal. Scored zero for study design, effect reported 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 33 of the 58 points we could judge it on, which is 57 out of 100.
| Component | Points | Why |
|---|---|---|
| Journal tier | 9 / 10 | Tier 2 — leading specialty journal (Brain : a journal of 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 | 3 / 5 | Rated “moderate” in our summary |
| Peer-review validation | 10 / 10 | Peer-reviewed. Published as an article in a named peer-reviewed journal. |
| How recent | 2 / 5 | 2017 — within 10 year(s) of the newest study here |
| Sample size | 2 / 4 | 100 participants |
| 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 (participant count stated) |
| 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 28334938) |
| Free to read | 2 / 2 | Free to read |
| Points | 33 / 58 | Scored on 11 of 20 parts. We have no data for the rest, so they are left out: 33 of the 58 points we could judge it on is 57 out of 100. |
| Total | 57 / 100 | — |
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