ArticleBrain communications2023
Spinocerebellar ataxia 27B: episodic symptoms and acetazolamide response in 34 patients.
Open access · goldAbstract read
In one paragraph
Article in Brain communications, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers, 2 of them syntheses that pooled it.
0numbers the graph read from it
0cells of the map it votes in
22citing papers in PubMed, 2 pooled it
4.2field-weighted citation impact, top 5% of its field
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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
22 citing papers in PubMed, 2 syntheses or guidelines pooled it, 28 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
- Cerebellar cognitive affective syndrome (CCAS) and [18F]-FDG PET findings in spinocerebellar ataxia type SCA27B.Journal of neurology · 2026Article
- Long-term response to aminopyridines in a cohort of patients with ataxia associated with downbeat nystagmus due to the FGF14 GAA expansion.Neurologia · 2026Article
- Genotype and Age at Onset Drive Vermis Atrophy in CACNA1A- and GAA-FGF14-related Ataxias.Cerebellum (London, England) · 2026Article
- Clinical characteristics, cerebellar MR spectroscopy and response to 3,4-diaminopyridine in spinocerebellar ataxia 27B: the Sheffield Ataxia Centre experience.Journal of neurology · 2025Article
- GAA-FGF14 Expansions and CACNA1A Variants: Phenotypic Overlap and Diagnostic Implications.Movement disorders : official journal of the Movement Disorder Society · 2025Article
- Delineating the pathogenic threshold and phenotypic spectrum of SCA27B: findings from a large French-Canadian cohort.Journal of neurology · 2025Article
- Spinocerebellar Ataxia Type 27B can be Suspected Based on Clinical Phenotype: The Massachusetts General Hospital Ataxia Center Experience.Cerebellum (London, England) · 2025Article
- Late-onset vestibulocerebellar ataxia: clinical and genetic studies in a long follow-up series of 50 patients.Journal of neurology · 2025Article
- Recent Advances in the Genetics of Ataxias: An Update on Novel Autosomal Dominant Repeat Expansions.Current neurology and neuroscience reports · 2025Review
- Diplopia in the Spinocerebellar Ataxias: Prevalence, Risk Factors, and Association with Falls.Neuro-ophthalmology (Aeolus Press) · 2025Article
- Clinical, Radiological and Pathological Features of a Large American Cohort of Spinocerebellar Ataxia (SCA27B).Annals of neurology · 2024Article
- An Update on the Adult-Onset Hereditary Cerebellar Ataxias: Novel Genetic Causes and New Diagnostic Approaches.Cerebellum (London, England) · 2024Review
- Identification and characterisation of pathogenic and non-pathogenic FGF14 repeat expansions.Nature communications · 2024Article
- Article
- GAA-FGF14 disease: defining its frequency, molecular basis, and 4-aminopyridine response in a large downbeat nystagmus cohort.EBioMedicine · 2024Article
- The genetic landscape and phenotypic spectrum of GAA-FGF14 ataxia in China: a large cohort study.EBioMedicine · 2024Article
- Paroxysmal Ataxia: A Characteristic Feature of FGF14 Repeat Expansion (SCA27B).Neurology. Genetics · 2024Article
- Spinocerebellar ataxia 27B: A novel, frequent and potentially treatable ataxia.Clinical and translational medicine · 2024Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
14 authors at 7 institutions in 7 countries.
Catherine AshtonDepartment of Neurology and Neurosurgery, Montreal Neurological Hospital and Institute, McGill University, Montreal, QC H3A 2B4, Canada.ORCID https://orcid.org/0000-0001-8042-6180
Elisabetta IndelicatoCenter for Rare Movement Disorders Innsbruck, Department of Neurology, Medical University of Innsbruck, Innsbruck 6020, Austria.ORCID https://orcid.org/0000-0003-0217-8630
David PellerinDepartment of Neurology and Neurosurgery, Montreal Neurological Hospital and Institute, McGill University, Montreal, QC H3A 2B4, Canada.
Guillemette ClémentINSERM-U1256 NGERE, Université de Lorraine, 54500 Vandoeuvre-les-Nancy, France.
Matt C DanziDr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL 33176, USA.
Marie-Josée DicaireDepartment of Neurology and Neurosurgery, Montreal Neurological Hospital and Institute, McGill University, Montreal, QC H3A 2B4, Canada.
Céline BonnetINSERM-U1256 NGERE, Université de Lorraine, 54500 Vandoeuvre-les-Nancy, France.
Henry HouldenDepartment of Neuromuscular Diseases, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, University College London, London WC1N 3BG, UK.ORCID https://orcid.org/0000-0002-2866-7777
Stephan ZüchnerDr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL 33176, USA.
Matthis SynofzikDivision of Translational Genomics of Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research and Center of Neurology, University of Tübingen, 72076 Tübingen, Germany.ORCID https://orcid.org/0000-0002-2280-7273
Phillipa J LamontGerman Center for Neurodegenerative Diseases (DZNE), 72076 Tübingen, Germany.
Mathilde RenaudINSERM-U1256 NGERE, Université de Lorraine, 54500 Vandoeuvre-les-Nancy, France.
Sylvia BoeschCenter for Rare Movement Disorders Innsbruck, Department of Neurology, Medical University of Innsbruck, Innsbruck 6020, Austria.
Bernard BraisDepartment of Neurology and Neurosurgery, Montreal Neurological Hospital and Institute, McGill University, Montreal, QC H3A 2B4, Canada.ORCID https://orcid.org/0000-0003-1394-3561
Montreal Neurological Institute and Hospital · CAInserm · FRInnsbruck Medical University · ATUniversity of Miami · USGerman Center for Neurodegenerative Diseases · DENational Hospital for Neurology and Neurosurgery · GBRoyal Perth Hospital · AU
Funding
Medical Research Council MR/S01165X/1
Abstract
Ashton C
Identifiers
What Socratic holds
Textmetadata
LicenceCC BY
Read underepoch 390
Registered trials
None linked
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 Socratic graph.