Evidence map›Paper›PMID 42044943›Full record

ArticleNeurologia2026

Long-term response to aminopyridines in a cohort of patients with ataxia associated with downbeat nystagmus due to the FGF14 GAA expansion.

E Muñoz, M De la Cruz-Puebla, D Pellerin, C Painous, M I Álvarez-Mora, M J Dicaire, L Rodríguez-Revenga, M C Danzi, S Zuchner, B Brais

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In one paragraph

Article in Neurologia, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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1 · What the graph read from 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.

2 · The registry

The trial behind it

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3 · Its place in the literature

Who cites it

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No citing paper in PubMed yet.

4 · The record

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5 · Who and what money

Authors and funding

10 authors.

E MuñozParkinson's Disease and Movement Disorders Unit, Neurology Department, Institut Clínic de Neurociències, Hospital Clínic de Barcelona, Barcelona, Catalonia, Spain; Institut de Neurociències, University of Barcelona, Barcelona, Catalonia, Spain; Fundació de Recerca Clínic Barcelona-Institut de Investigacions Biomèdiques August Pi i Sunyer (FRCB-IDIBAPS), Barcelona, Catalonia, Spain; European Reference Network of Rare Neurological Diseases (ERN-RND), Spain. Electronic address: jemunoz@clinic.cat.
M De la Cruz-PueblaParkinson's Disease and Movement Disorders Unit, Neurology Department, Institut Clínic de Neurociències, Hospital Clínic de Barcelona, Barcelona, Catalonia, Spain; Fundació de Recerca Clínic Barcelona-Institut de Investigacions Biomèdiques August Pi i Sunyer (FRCB-IDIBAPS), Barcelona, Catalonia, Spain; Department of Equity in Brain Health, Global Brain Health Institute (GBHI), University of California, San Francisco (UCSF), CA, USA.
D PellerinDepartment of Neurology and Neurosurgery, Montreal Neurological Hospital and Institute, McGill University, Montreal, QC, Canada; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology and the National Hospital for Neurology and Neurosurgery, University College London, London, United Kingdom.
C PainousParkinson's Disease and Movement Disorders Unit, Neurology Department, Institut Clínic de Neurociències, Hospital Clínic de Barcelona, Barcelona, Catalonia, Spain; Fundació de Recerca Clínic Barcelona-Institut de Investigacions Biomèdiques August Pi i Sunyer (FRCB-IDIBAPS), Barcelona, Catalonia, Spain.
M I Álvarez-MoraFundació de Recerca Clínic Barcelona-Institut de Investigacions Biomèdiques August Pi i Sunyer (FRCB-IDIBAPS), Barcelona, Catalonia, Spain; Biochemistry and Molecular Genetics Department, Hospital Clínic de Barcelona, Barcelona, Catalonia, Spain; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Spain.
M J DicaireDepartment of Neurology and Neurosurgery, Montreal Neurological Hospital and Institute, McGill University, Montreal, QC, Canada.
L Rodríguez-RevengaFundació de Recerca Clínic Barcelona-Institut de Investigacions Biomèdiques August Pi i Sunyer (FRCB-IDIBAPS), Barcelona, Catalonia, Spain; Biochemistry and Molecular Genetics Department, Hospital Clínic de Barcelona, Barcelona, Catalonia, Spain; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Spain.
M 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, USA.
S ZuchnerDr. 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, USA.
B BraisDepartment of Neurology and Neurosurgery, Montreal Neurological Hospital and Institute, McGill University, Montreal, QC, Canada.

Funding

GENOME STUDIES IN HEREDITARY SPASTIC PARAPLEGIA - beyond the exomeR01NS072248 · NINDS · UNIVERSITY OF MIAMI SCHOOL OF MEDICINE · PI Stephan Zuchner · 2011 to 2026
$9.2M
NINDS NIH HHS R01 NS072248
6 · The paper itself

Abstract

backgroundAtaxia with downbeat nystagmus (A-DBN) has recently been associated with an intronic GAA repeat expansion in the FGF14 gene. The objectives of our study were to describe the clinical, radiological, and genetic findings, as well as the long-term response to aminopyridine (AP) treatment, in a cohort of patients with ataxia with DBN.

methodsDemographic, clinical, and radiological data were obtained through medical records. Genetic analysis of the FGF14 GAA expansion was performed. All patients were under compassionate treatment with AP. Scale for Assessment and Rating of Ataxia (SARA) score pre-treatment was compared with the current SARA score. Patient Clinical Global Impression (CGI-p) and the presence of adverse events were also assessed.

resultsEight patients were included. Median (quartiles 1 and 3) age at disease onset was 63.5 (54-67) years. Before treatment, patients complained of gait instability with daily fluctuations and visual disturbances. They showed DBN with predominant involvement of gait and posture on the SARA. Brain MRI disclosed mainly vermian atrophy. An FGF14 GAA expansion (>250 repeats) was demonstrated in all patients. After a median AP treatment duration of 43 (14.25-137.25) months, the CGI-p showed a median improvement of 65% (60-80%) in their disability, and the total SARA score remained without significant changes (P=.348). Only one patient complained of transient gastric upset and nausea with AP treatment.

conclusionsPatients with A-DBN due to the FGF14 GAA expansion predominately show an axial involvement with fluctuating disability. Long-term treatment with AP is well tolerated and effective, and seems to slow disease progression in our patients.

Indexed as

AminopyridinesAtaxiaFibroblast Growth FactorsNystagmus, PathologicCohort StudiesFemaleHumansMaleMiddle AgedTreatment OutcomeAminopyridinesfibroblast growth factor 14Fibroblast Growth FactorsAminopiridinaAminopyridineAtaxiaDownbeat nystagmusExpansión GAA-FGF14GAA-FGF14 expansionNistagmo de tipo downbeatSCA27B

Identifiers

PMID42044943
PMCPMC13402732

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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.