Evidence map›Paper›PMID 39666053›Full record

ArticleJournal of neurology2024

How to distinguish spinocerebellar ataxia 27B from late onset cerebellar ataxia: insights from a case-control study.

Raquel Pinheiro-Barbosa, Cheick Cissé, Paulo Bastos, Clémence Leung, Anne Pavy-le Traon, Marc Kermorgant, Fabrice Bonneville, Mathilde Renaud, Cecile Bonnet, Marion Wandzel and 4 more

Abstract read
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In one paragraph

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 5 papers, 2 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
5citing papers in PubMed, 2 pooled it
–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

5 citing papers in PubMed, 2 syntheses or guidelines pooled it.

  1. Pooled it
  2. Pooled it
  3. Article
  4. The evolution of axial postural abnormality in Parkinson's disease: a 3-year longitudinal observational study.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2025
    Observational
  5. Article
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

14 authors.

Raquel Pinheiro-Barbosa *Neurology Department University Hospital of Toulouse, Clinical Investigation Center CIC 1436, Parkinson Expert Centre, NeuroToul Center of Excellence in Neurodegeneration (COEN) of Toulouse, CHU of Toulouse, Inserm, University of Toulouse 3, Toulouse, France.
Cheick Cissé *University of Sciences Techniques and Technology of Bamako, Bamako, Mali.
Paulo BastosMSA French Reference Center, University Hospital Toulouse, Toulouse, France.
Clémence LeungNeurology Department University Hospital of Toulouse, Clinical Investigation Center CIC 1436, Parkinson Expert Centre, NeuroToul Center of Excellence in Neurodegeneration (COEN) of Toulouse, CHU of Toulouse, Inserm, University of Toulouse 3, Toulouse, France.
Anne Pavy-le TraonNeurology Department University Hospital of Toulouse, Clinical Investigation Center CIC 1436, Parkinson Expert Centre, NeuroToul Center of Excellence in Neurodegeneration (COEN) of Toulouse, CHU of Toulouse, Inserm, University of Toulouse 3, Toulouse, France.
Marc KermorgantMSA French Reference Center, University Hospital Toulouse, Toulouse, France.
Fabrice BonnevilleToulouse Neuroimaging Center, Université de Toulouse, Inserm, UPS, 31059, Toulouse, France.
Mathilde RenaudService de Génétique Clinique et de Neurologie, Hôpital Brabois Enfants, Nancy, France.
Cecile BonnetINSERM UMR_S 1256, Nutrition, Genetics, and Environmental Risk Exposure (NGERE), Lorraine University, 54000, Nancy, France.
Marion WandzelMedical Genetics Laboratory, Nancy Regional University Hospital, Nancy, France.
Virginie RothMedical Genetics Laboratory, Nancy Regional University Hospital, Nancy, France.
Olivier RascolNeurology Department University Hospital of Toulouse, Clinical Investigation Center CIC 1436, Parkinson Expert Centre, NeuroToul Center of Excellence in Neurodegeneration (COEN) of Toulouse, CHU of Toulouse, Inserm, University of Toulouse 3, Toulouse, France.
Fabienne Ory-Magne *Neurology Department University Hospital of Toulouse, Clinical Investigation Center CIC 1436, Parkinson Expert Centre, NeuroToul Center of Excellence in Neurodegeneration (COEN) of Toulouse, CHU of Toulouse, Inserm, University of Toulouse 3, Toulouse, France.
Margherita Fabbri *Neurology Department University Hospital of Toulouse, Clinical Investigation Center CIC 1436, Parkinson Expert Centre, NeuroToul Center of Excellence in Neurodegeneration (COEN) of Toulouse, CHU of Toulouse, Inserm, University of Toulouse 3, Toulouse, France. margheritafabbrimd@gmail.com.ORCID http://orcid.org/0000-0001-7250-592X

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundSpinocerebellar ataxia 27B is the most common genetic late onset cerebellar ataxia (LOCA). However, it commonly overlaps with other genetic LOCA as with the cerebellar form of multiple system atrophy (MSA-C).

objectivesTo pinpoint which clinical signs and symptoms best discriminate between FGF14 + from FGF14 - patients at symptoms' onset.

methodsTwenty SCA27B (≥ 250 GAA repeat expansion) patients were retrospectively matched by gender and age at disease onset with 20 negative FGF14 (-) LOCA patients and with 20 MSA-C patients. Clinical features were ranked based on their contribution towards distinguishing between the groups (feature importance ranking).

resultsSCA27B patients had significantly higher rates of episodic symptoms, cerebellar oculomotor signs, dysdiadochokinesia, and alcohol intolerance than LOCA-FGF14 - ataxia patients. The lack of autonomic symptoms and MRI signs in SCA27B patients were the most discriminating features from MSA-C. An AUC of 0.87 was obtained if using the "top 3 clinical features model" (episodic symptoms, cerebellar oculomotor signs and dysdiadochokinesia) to distinguish SCAB27 from LCOA FGF14 - . Regarding MRI findings, no significant differences were found between SCA27B and FGF14 - patients, while a positive hot cross buns sign and the presence of brainstem atrophy were key distinguishing features between SCA27B from MSA-C patients (p < 0.005).

conclusionOur pilot case-control study contributes to the identification of early clinical symptoms to differentiate SCA27B to LOCA patients including FGF14- and MSA-C ones. From a feature perspective, while clinical features are crucial, identifying surrogate biomarkers-such as ocular or gait parameters-could aid in the early diagnosis and follow-up of SCA27B patients.

Indexed as

Fibroblast Growth FactorsAdultAgedAge of OnsetCase-Control StudiesCerebellar AtaxiaDiagnosis, DifferentialFemaleHumansMagnetic Resonance ImagingMaleMiddle AgedMultiple System AtrophyRetrospective StudiesSpinocerebellar AtaxiasSpinocerebellar Degenerationsfibroblast growth factor 14Fibroblast Growth FactorsBalance impairmentEpisodic gaitFGF14/SCA27BLate onset genetic ataxiaMultiple system atrophy

Identifiers

PMID39666053

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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.