Evidence map›Paper›PMID 40024931›Full record

ArticleJournal of neurology2025

Late-onset vestibulocerebellar ataxia: clinical and genetic studies in a long follow-up series of 50 patients.

David Genís, Berta Alemany, David Pellerin, Bernard Brais, Marie-Josée Dicaire, Víctor Volpini, Berta Campos, Jordi Corral, Josep Gardenyes, Laura de Jorge and 12 more

Abstract read
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In one paragraph

Article in Journal of neurology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

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0cells of the map it votes in
2citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

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.

2 · The registry

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.

3 · Its place in the literature

Who cites it

2 citing papers in PubMed.

  1. Article
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4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

22 authors.

David GenísUnit of Ataxias, Spastic Paraparesis, and Rare Neurological Diseases, Neurology Service, Hospital Universitari de Girona Dr. Josep Trueta (Girona) and Hospital de Santa Caterina (Salt), Girona, Spain. 1918dgb@gmail.com.ORCID http://orcid.org/0009-0004-5004-0913
Berta AlemanyUnit of Ataxias, Spastic Paraparesis, and Rare Neurological Diseases, Neurology Service, Hospital Universitari de Girona Dr. Josep Trueta (Girona) and Hospital de Santa Caterina (Salt), Girona, Spain.
David PellerinDepartments of Neurology and Neurosurgery, Montreal Neurological Hospital and Institute, Mcgill University, Montreal, QC, Canada.
Bernard BraisDepartments of Neurology and Neurosurgery, Montreal Neurological Hospital and Institute, Mcgill University, Montreal, QC, Canada.
Marie-Josée DicaireDepartments of Neurology and Neurosurgery, Montreal Neurological Hospital and Institute, Mcgill University, Montreal, QC, Canada.
Víctor VolpiniMolecular Diagnosis Centre of Inherited Diseases, Institut d'Investigacions Biomèdiques de Bellvitge (IDIBELL), L'Hospitalet de Llobregat, Barcelona, Spain.
Berta CamposMolecular Diagnosis Centre of Inherited Diseases, Institut d'Investigacions Biomèdiques de Bellvitge (IDIBELL), L'Hospitalet de Llobregat, Barcelona, Spain.
Jordi CorralMolecular Diagnosis Centre of Inherited Diseases, Institut d'Investigacions Biomèdiques de Bellvitge (IDIBELL), L'Hospitalet de Llobregat, Barcelona, Spain.
Josep GardenyesMolecular Diagnosis Centre of Inherited Diseases, Institut d'Investigacions Biomèdiques de Bellvitge (IDIBELL), L'Hospitalet de Llobregat, Barcelona, Spain.
Laura de JorgeMolecular Diagnosis Centre of Inherited Diseases, Institut d'Investigacions Biomèdiques de Bellvitge (IDIBELL), L'Hospitalet de Llobregat, Barcelona, Spain.
Héctor San NicolásMolecular Diagnosis Centre of Inherited Diseases, Institut d'Investigacions Biomèdiques de Bellvitge (IDIBELL), L'Hospitalet de Llobregat, Barcelona, Spain.
Maria BuxóUnitat de Estadística, Institut de Recerca Biomèdica de Girona (IDIBGi), Girona, Spain.
Joan Martínez SanchoUnitat de Estadística, Institut de Recerca Biomèdica de Girona (IDIBGi), Girona, Spain.
Maria ObonGenetic Unit, Laboratori Clinic Territorial de Girona, Hospital Universitari de Girona Dr. Josep Trueta (Girona) and Hospital de Santa Caterina (Salt), Girona, Spain.
Carles RoigGenetic Unit, Laboratori Clinic Territorial de Girona, Hospital Universitari de Girona Dr. Josep Trueta (Girona) and Hospital de Santa Caterina (Salt), Girona, Spain.
Laia Rodriguez-RevengaBiochemistry and Molecular Genetics Department, CIBER of Rare Diseases (CIBERER), Hospital Clinic of Barcelona, Instituto de Salud Carlos III, Barcelona, Spain.
María Isabel Alvarez-MoraBiochemistry and Molecular Genetics Department, CIBER of Rare Diseases (CIBERER), Hospital Clinic of Barcelona, Instituto de Salud Carlos III, Barcelona, Spain.
Matt C DanziDepartment of Human Genetics and John P, Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL, USA.
Henry HouldenNeuromuscular Diseases, UCL Queen Square Institute of Neurology and the National Hospital for Neurology and Neurosurgery, University College London, London, UK.
Stephan ZuchnerDepartment of Human Genetics and John P, Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL, USA.
Fabián MárquezNeurology Department, Hospital Universitari de Girona Dr. Josep Trueta (Girona) and Hospital de Santa Caterina (Salt), Girona, Spain.
Lluís Ramió I TorrentàNeurodegeneration and Neuroinflammation Research Group, IDIBGI, Girona, Spain.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundTo describe the epidemiology, clinical features, degree of disability and genetic characteristics of a cohort of patients with a vestibulo-cerebellar ataxia of very late onset (LOVCA).

methodsWe analysed the clinical, radiological, and genetic characteristics of a cohort of 50 patients with LOVCA. Where possible, patients were followed over the full course of the disease, including clinical, and molecular genetic analysis of genes known to cause episodic ataxia.

resultsTen patients are familial and 40 sporadic. Forty-three patients had an episodic onset, with episodes of gait ataxia characterized especially by sudden instability with downbeat nystagmus, visual symptoms, dizziness, and falls. Progression began on average 1.5 years after the onset of episodes. Of the patients followed over the full course of the disease, 87% became disabled. Women seem more prone to disability than men. An FGF14 intronic GAA repeat expansion was found in 61% of patients with available DNA. The prevalence of LOVCA is 5.03/10

conclusionLOVCA appears after the age of 50 and commonly leads to an inability to stand up and walk. The disease caused mild atrophy only in half of the patients and few changes were observed by MRI. The most common genetic cause was a heterozygous GAA expansion in FGF14 (SCA27B). One third of our patients have no aetiological diagnosis. Disability seems to be a result of the complete loss of the vestibulocerebellar function, which is presumably a result of degeneration of this system.

Indexed as

Cerebellar AtaxiaAdultAgedAged, 80 and overAge of OnsetCohort StudiesDisease ProgressionFemaleFibroblast Growth FactorsFollow-Up StudiesHumansMagnetic Resonance ImagingMaleMiddle Agedfibroblast growth factor 14Fibroblast Growth FactorsEpisodic ataxiaGenetic diagnosisLate-onset ataxiaVestibulocerebellar ataxia

Identifiers

PMID40024931

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