ArticleJournal of neurology2024
Does Spinocerebellar ataxia 27B mimic cerebellar multiple system atrophy?
Article in Journal of neurology, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers, 2 of them syntheses that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
11 citing papers in PubMed, 2 syntheses or guidelines pooled it, 14 citations in OpenAlex.
- Clinical and Genetic Characteristics of SCA27B: A Global Systematic Review and Meta-Analysis.Cerebellum (London, England) · 2026Pooled it
- Spinocerebellar ataxia 27B (SCA27B)-a systematic review and a case report of a Polish family.Journal of applied genetics · 2025Pooled it
- Phenotype and Genetics of Spinocerebellar Ataxia Type 27B: Novel Movement-disorder Features, Cognitive Impairment, and Repeat Expansion Findings.Cerebellum (London, England) · 2026Article
- Long-read sequencing identifies FGF14 repeat expansions in Parkinson's disease.Brain : a journal of neurology · 2026Article
- Progress and challenges in sporadic late-onset cerebellar ataxias.Nature reviews. Neurology · 2025Review
- Practice Recommendations for Genetic Testing of Ataxias.Annals of clinical and translational neurology · 2025Review
- Intronic FGF14 GAA repeat expansions impact progression and survival in multiple system atrophy.Brain : a journal of neurology · 2025Article
- Frequency of FGF14 intronic GAA repeat expansion in patients with multiple system atrophy and undiagnosed ataxia in the Japanese population.European journal of human genetics : EJHG · 2025Article
- Recent Advances in the Genetics of Ataxias: An Update on Novel Autosomal Dominant Repeat Expansions.Current neurology and neuroscience reports · 2025Review
- How to distinguish spinocerebellar ataxia 27B from late onset cerebellar ataxia: insights from a case-control study.Journal of neurology · 2024Article
- Genetic profiles of multiple system atrophy revealed by exome sequencing, long-read sequencing and spinocerebellar ataxia repeat expansion analysis.European journal of neurology · 2024Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
17 authors at 5 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundWhether spinocerebellar ataxia 27B (SCA27B) may present as a cerebellar multiple system atrophy (MSA-C) mimic remains undetermined.
objectivesTo assess the prevalence of FGF14 (GAA)
methodsFGF14 expansion screening combined with longitudinal deep-phenotyping in a prospective cohort of 195 patients with sporadic late-onset cerebellar ataxia.
resultsAfter a mean disease duration of 6.4 years, 111 patients were not meeting criteria for MSA-C while 24 and 60 patients had a final diagnosis of possible and probable MSA-C, respectively. 16 patients carried an FGF14 (GAA)
conclusionsFGF14 (GAA)
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.