Evidence map›Paper›PMID 27066538›Full record

ArticleNeurology. Genetics2015

CHCHD10 variant p.(Gly66Val) causes axonal Charcot-Marie-Tooth disease.

Mari Auranen, Emil Ylikallio, Maria Shcherbii, Anders Paetau, Sari Kiuru-Enari, Jussi P Toppila, Henna Tyynismaa

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

Article in Neurology. Genetics, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 49 papers.

0numbers the graph read from it
0cells of the map it votes in
49citing papers in PubMed
3.8field-weighted citation impact, top 6% 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

49 citing papers in PubMed, 97 citations in OpenAlex.

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  19. HeterozygousGenes · 2021
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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

7 authors at 3 institutions in 2 countries.

Mari AuranenResearch Programs Unit (M.A., E.Y., M.S., H.T.), Molecular Neurology, University of Helsinki; Clinical Neurosciences, Neurology (M.A., S.K.-E.), University of Helsinki and Helsinki University Hospital; Department of Pathology (A.P.), HUSLAB & University of Helsinki; Department of Clinical Neurophysiology (J.P.T.), Medical Imaging Center, Helsinki University Hospital; and Department of Medical Genetics (H.T.), Haartman Institute, University of Helsinki, Finland.
Emil YlikallioResearch Programs Unit (M.A., E.Y., M.S., H.T.), Molecular Neurology, University of Helsinki; Clinical Neurosciences, Neurology (M.A., S.K.-E.), University of Helsinki and Helsinki University Hospital; Department of Pathology (A.P.), HUSLAB & University of Helsinki; Department of Clinical Neurophysiology (J.P.T.), Medical Imaging Center, Helsinki University Hospital; and Department of Medical Genetics (H.T.), Haartman Institute, University of Helsinki, Finland.
Maria ShcherbiiResearch Programs Unit (M.A., E.Y., M.S., H.T.), Molecular Neurology, University of Helsinki; Clinical Neurosciences, Neurology (M.A., S.K.-E.), University of Helsinki and Helsinki University Hospital; Department of Pathology (A.P.), HUSLAB & University of Helsinki; Department of Clinical Neurophysiology (J.P.T.), Medical Imaging Center, Helsinki University Hospital; and Department of Medical Genetics (H.T.), Haartman Institute, University of Helsinki, Finland.
Anders PaetauResearch Programs Unit (M.A., E.Y., M.S., H.T.), Molecular Neurology, University of Helsinki; Clinical Neurosciences, Neurology (M.A., S.K.-E.), University of Helsinki and Helsinki University Hospital; Department of Pathology (A.P.), HUSLAB & University of Helsinki; Department of Clinical Neurophysiology (J.P.T.), Medical Imaging Center, Helsinki University Hospital; and Department of Medical Genetics (H.T.), Haartman Institute, University of Helsinki, Finland.
Sari Kiuru-EnariResearch Programs Unit (M.A., E.Y., M.S., H.T.), Molecular Neurology, University of Helsinki; Clinical Neurosciences, Neurology (M.A., S.K.-E.), University of Helsinki and Helsinki University Hospital; Department of Pathology (A.P.), HUSLAB & University of Helsinki; Department of Clinical Neurophysiology (J.P.T.), Medical Imaging Center, Helsinki University Hospital; and Department of Medical Genetics (H.T.), Haartman Institute, University of Helsinki, Finland.
Jussi P ToppilaResearch Programs Unit (M.A., E.Y., M.S., H.T.), Molecular Neurology, University of Helsinki; Clinical Neurosciences, Neurology (M.A., S.K.-E.), University of Helsinki and Helsinki University Hospital; Department of Pathology (A.P.), HUSLAB & University of Helsinki; Department of Clinical Neurophysiology (J.P.T.), Medical Imaging Center, Helsinki University Hospital; and Department of Medical Genetics (H.T.), Haartman Institute, University of Helsinki, Finland.
Henna TyynismaaResearch Programs Unit (M.A., E.Y., M.S., H.T.), Molecular Neurology, University of Helsinki; Clinical Neurosciences, Neurology (M.A., S.K.-E.), University of Helsinki and Helsinki University Hospital; Department of Pathology (A.P.), HUSLAB & University of Helsinki; Department of Clinical Neurophysiology (J.P.T.), Medical Imaging Center, Helsinki University Hospital; and Department of Medical Genetics (H.T.), Haartman Institute, University of Helsinki, Finland.
University of Helsinki · FIHelsinki University Hospital · FIImaging Center · US

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

objectiveWe describe the phenotype consistent with axonal Charcot-Marie-Tooth disease type 2 (CMT2) in 4 families with a c.197G>T (p.(Gly66Val)) variant in CHCHD10.

methodsWe sequenced the CHCHD10 gene in a cohort of 107 families with CMT2 of unknown etiology. The patients were characterized by clinical examination and electroneuromyography. Muscle MRI and biopsy of the muscle or nerve were performed in selected cases. Neuropathologic autopsy was performed in 1 case.

resultsThe c.197G>T variant in CHCHD10 was found in 6 families, 4 of which included multiple individuals available for detailed clinical study. Variants in this gene have recently been associated with amyotrophic lateral sclerosis-frontotemporal dementia, mitochondrial myopathy, or spinal muscular atrophy Jokela type (SMAJ), but not with CMT2. Our patients had a late-onset distal axonal neuropathy with motor predominance, progressing to involve sensory nerves. Neurophysiologic and neuropathologic studies confirmed the diagnosis of sensorimotor axonal neuropathy with no loss of anterior horn neurons. Muscle biopsies showed occasional cytochrome c oxidase-negative fibers, combined with small amounts of mitochondrial DNA deletions.

conclusionsCHCHD10 c.197G>T (p.(Gly66Val)) is a cause of sensorimotor axonal neuropathy. This gene should be considered in patients presenting with a pure CMT2 phenotype, particularly when motor symptoms predominate.

Identifiers

PMID27066538
PMCPMC4821082
OpenAlexW2202142674

What OpenQuestion holds

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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.