Evidence map›Paper›PMID 38170134›Full record

ArticleNeurology. Genetics2024

Paroxysmal Ataxia: A Characteristic Feature of FGF14 Repeat Expansion (SCA27B).

Cendrine Foucard, Marie Belley, Aude Sangare, Céline Bonnet, Mathilde Renaud, Emmanuel Roze

Open access · goldAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Neurology. Genetics, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers, 2 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
7citing papers in PubMed, 2 pooled it
1.0field-weighted citation impact, top 25% of its field
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

7 citing papers in PubMed, 2 syntheses or guidelines pooled it, 7 citations in OpenAlex.

  1. Pooled it
  2. Pooled it
  3. Article
  4. Article
  5. Article
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  7. 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

6 authors at 1 institution in 1 country.

Cendrine FoucardFrom the Assistance Publique-Hôpitaux de Paris (C.F., M.B., A.S., E.R.), DMU Neurosciences, Hôpital Pitié-Salpêtrière; Sorbonne Université (C.F., A.S., E.R.); Inserm U1127 (A.S., E.R.), CNRS UMR 7225, UM 75, Institut du Cerveau, Paris; Laboratoire de Génétique Médicale (C.B.), Hôpitaux de Brabois - CHRU de Nancy; INSERM-U1256 NGERE (C.B., M.R.), Université de Lorraine; Service de Neurologie (M.R.), CHRU de Nancy; and Service de Génétique Clinique (M.R.), CHRU Nancy, France.ORCID https://orcid.org/0000-0002-2223-0056
Marie BelleyFrom the Assistance Publique-Hôpitaux de Paris (C.F., M.B., A.S., E.R.), DMU Neurosciences, Hôpital Pitié-Salpêtrière; Sorbonne Université (C.F., A.S., E.R.); Inserm U1127 (A.S., E.R.), CNRS UMR 7225, UM 75, Institut du Cerveau, Paris; Laboratoire de Génétique Médicale (C.B.), Hôpitaux de Brabois - CHRU de Nancy; INSERM-U1256 NGERE (C.B., M.R.), Université de Lorraine; Service de Neurologie (M.R.), CHRU de Nancy; and Service de Génétique Clinique (M.R.), CHRU Nancy, France.
Aude SangareFrom the Assistance Publique-Hôpitaux de Paris (C.F., M.B., A.S., E.R.), DMU Neurosciences, Hôpital Pitié-Salpêtrière; Sorbonne Université (C.F., A.S., E.R.); Inserm U1127 (A.S., E.R.), CNRS UMR 7225, UM 75, Institut du Cerveau, Paris; Laboratoire de Génétique Médicale (C.B.), Hôpitaux de Brabois - CHRU de Nancy; INSERM-U1256 NGERE (C.B., M.R.), Université de Lorraine; Service de Neurologie (M.R.), CHRU de Nancy; and Service de Génétique Clinique (M.R.), CHRU Nancy, France.
Céline BonnetFrom the Assistance Publique-Hôpitaux de Paris (C.F., M.B., A.S., E.R.), DMU Neurosciences, Hôpital Pitié-Salpêtrière; Sorbonne Université (C.F., A.S., E.R.); Inserm U1127 (A.S., E.R.), CNRS UMR 7225, UM 75, Institut du Cerveau, Paris; Laboratoire de Génétique Médicale (C.B.), Hôpitaux de Brabois - CHRU de Nancy; INSERM-U1256 NGERE (C.B., M.R.), Université de Lorraine; Service de Neurologie (M.R.), CHRU de Nancy; and Service de Génétique Clinique (M.R.), CHRU Nancy, France.ORCID https://orcid.org/0000-0002-6799-0438
Mathilde RenaudFrom the Assistance Publique-Hôpitaux de Paris (C.F., M.B., A.S., E.R.), DMU Neurosciences, Hôpital Pitié-Salpêtrière; Sorbonne Université (C.F., A.S., E.R.); Inserm U1127 (A.S., E.R.), CNRS UMR 7225, UM 75, Institut du Cerveau, Paris; Laboratoire de Génétique Médicale (C.B.), Hôpitaux de Brabois - CHRU de Nancy; INSERM-U1256 NGERE (C.B., M.R.), Université de Lorraine; Service de Neurologie (M.R.), CHRU de Nancy; and Service de Génétique Clinique (M.R.), CHRU Nancy, France.
Emmanuel RozeFrom the Assistance Publique-Hôpitaux de Paris (C.F., M.B., A.S., E.R.), DMU Neurosciences, Hôpital Pitié-Salpêtrière; Sorbonne Université (C.F., A.S., E.R.); Inserm U1127 (A.S., E.R.), CNRS UMR 7225, UM 75, Institut du Cerveau, Paris; Laboratoire de Génétique Médicale (C.B.), Hôpitaux de Brabois - CHRU de Nancy; INSERM-U1256 NGERE (C.B., M.R.), Université de Lorraine; Service de Neurologie (M.R.), CHRU de Nancy; and Service de Génétique Clinique (M.R.), CHRU Nancy, France.
Centre National de la Recherche Scientifique · FR

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Objectives: Paroxysmal ataxia is typically characterized by early-onset attacks of cerebellar ataxia. Late-onset cerebellar ataxia (LOCA) comprises a group of neurodegenerative disorders mainly characterized by adult-onset progressive cerebellar ataxia. A deep intronic expansion of a GAA triplet in the Methods: We describe a patient with paroxysmal ataxia/dysarthria due to a Results: The 4 patients had paroxysmal ataxia/dysarthria occurring between 45 and 50 years as the initial manifestation of a Discussion: Paroxysmal dysarthria/ataxia should prompt the clinician to test for

Identifiers

PMID38170134
PMCPMC10759144
OpenAlexW4389497317

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
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 OpenQuestion graph.