Evidence map›Paper›PMID 26260654›Full record

ArticleNeurogenetics2015

Novel SIL1 mutations cause cerebellar ataxia and atrophy in a French-Canadian family.

Anne Noreau, Roberta La Piana, Camille Marcoux, FORGE Canada, Patrick A Dion, Bernard Brais, Geneviève Bernard, Guy A Rouleau

Abstract read
PubMed Publisher
In one paragraph

Article in Neurogenetics, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing papers in PubMed
0.3field-weighted citation impact, top 39% 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

4 citing papers in PubMed, 6 citations in OpenAlex.

  1. Article
  2. A NovelInternational journal of molecular sciences · 2025
    Article
  3. 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

8 authors at 1 institution in 1 country.

Anne NoreauMontreal Neurological Institute and Hospital, McGill University, 3801 University St., Room 636, Montreal, Quebec, Canada.
Roberta La PianaLaboratory of Neurogenetics of Motion, Montreal Neurological Institute, McGill University, Montreal, Quebec, Canada.
Camille MarcouxDepartment of Pathology and Cellular Biology, Faculty of Medicine, Université de Montréal, Montreal, Quebec, Canada.
FORGE Canada
Patrick A DionMontreal Neurological Institute and Hospital, McGill University, 3801 University St., Room 636, Montreal, Quebec, Canada.
Bernard BraisMontreal Neurological Institute and Hospital, McGill University, 3801 University St., Room 636, Montreal, Quebec, Canada.
Geneviève BernardDepartments of Pediatrics, Neurology and Neurosurgery, Division of Pediatric Neurology, Montréal Children's Hospital, McGill University Heath Center, Montréal, Quebec, Canada.
Guy A RouleauMontreal Neurological Institute and Hospital, McGill University, 3801 University St., Room 636, Montreal, Quebec, Canada. guy.rouleau@mcgill.ca.
Montreal Neurological Institute and Hospital · CA

Funding

Canadian Institutes of Health Research
6 · The paper itself

Abstract

Two French-Canadian sibs with cerebellar ataxia and dysarthria were seen in our neurogenetics clinic. The older brother had global developmental delay and spastic paraplegia. Brain MRIs from these two affected individuals showed moderate to severe cerebellar atrophy. To identify the genetic basis for their disease, we conducted a whole exome sequencing (WES) investigation using genomic DNA prepared from the affected sibs and their healthy father. We identified two mutations in the SIL1 gene, which is reported to cause Marinesco-Sjögren syndrome. This study emphasizes how the diagnosis of patients with ataxic gait and cerebellar atrophy may benefit from WES to identify the genetic cause of their condition.

Indexed as

MutationAtrophyCanadaCerebellar AtaxiaCerebellumDysarthriaFemaleGenes, RecessiveGuanine Nucleotide Exchange FactorsHumansMaleSiblingsYoung AdultGuanine Nucleotide Exchange FactorsSIL1 protein, humanAtaxiaCerebellarMutationsSIL1Whole exome sequencing

Identifiers

PMID26260654
OpenAlexW1124350139

What OpenQuestion holds

Textmetadata
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.