Evidence map›Paper›PMID 23801417›Full record

ReviewMuscle & nerve2013

Inherited neuropathies: clinical overview and update.

Christopher J Klein, Xiaohui Duan, Michael E Shy

Open access · greenAbstract readReview
In one paragraph

Review in Muscle & nerve, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 40 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
40citing papers in PubMed, 1 pooled it
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

40 citing papers in PubMed, 1 synthesis or guideline pooled it, 81 citations in OpenAlex.

  1. Pooled it
  2. Article
  3. Article
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  5. Control of Schwann Cell Myelination by DDR1 Receptor Tyrosine Kinase.International journal of molecular sciences · 2026
    Article
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  7. Review
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  17. Article
  18. A Compound Heterozygous Pathogenic Variant inJournal of clinical neurology (Seoul, Korea) · 2021
    Article
  19. Article
  20. Review
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

3 authors at 3 institutions in 2 countries.

Christopher J KleinDepartment of Neurology, Mayo Clinic, 200 First Street SW, Rochester, Minnesota, 55905, USA; Department of Medical Genetics, Mayo Clinic, Rochester, Minnesota, USA.
Xiaohui Duan
Michael E Shy
China-Japan Friendship Hospital · CNMayo Clinic · USUniversity of Iowa Hospitals and Clinics · US

Funding

trainingU54NS065712 · NINDS · WAYNE STATE UNIVERSITY · PI SHY, MICHAEL E. · 2009 to 2023
$19.6M
DIABETIC NEUROPATHY STUDYR01NS036797 · NINDS · MAYO CLINIC ROCHESTER · PI DYCK, PETER JAMES · 1997 to 2008
$6.8M
Genomic Studies in Charcot-Marie-Tooth DiseaseR01NS075764 · NINDS · UNIVERSITY OF MIAMI SCHOOL OF MEDICINE · PI SHY, MICHAEL E., ZUCHNER, STEPHAN · 2012 to 2016
$3.0M
Identification of Genetic Causes of Hereditary Sensory and Autonomic NeuropathiesK08NS065007 · NINDS · MAYO CLINIC ROCHESTER · PI KLEIN, CHRISTOPHER · 2009 to 2013
$855k
NINDS NIH HHS 1R01NS075764-01A1NINDS NIH HHS 1U54NS065712-01NINDS NIH HHS K08 NS065007NINDS NIH HHS K08 NS065007-01A1NINDS NIH HHS NS36797NINDS NIH HHS R01 NS036797NINDS NIH HHS R01 NS075764NINDS NIH HHS U54 NS065712
6 · The paper itself

Abstract

Inherited neuropathy is a group of common neurologic disorders with heterogeneous clinical presentations and genetic causes. Detailed neuromuscular evaluations, including nerve conduction studies, laboratory testing, and histopathologic examination, can assist in identification of the inherited component beyond family history. Genetic testing increasingly enables definitive diagnosis of specific inherited neuropathies. Diagnosis, however, is often complex, and neurologic disability may have both genetic and acquired components in individual patients. The decision of which genetic test to order or whether to order genetic tests is often complicated, and the strategies to maximize the value of testing are evolving. Apart from rare inherited metabolic neuropathies, treatment approaches remain largely supportive. We provide a clinical update of the various types of inherited neuropathies, their differential diagnoses, and distinguishing clinical features (where available). A framework is provided for clinical evaluations, including the inheritance assessment, electrophysiologic examinations, and specific genetic tests.

Indexed as

Central Nervous System DiseasesDiagnosis, DifferentialHumansPeripheral Nervous System Diseasesataxiacerebellumneuropathyspinocerebellartriplet repeats

Identifiers

PMID23801417
PMCPMC3918879
OpenAlexW1540905435

What OpenQuestion holds

Textmetadata
LicenceTDM
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.