ArticleBrain and behavior2016
Underestimated associated features in CMT neuropathies: clinical indicators for the causative gene?
Article in Brain and behavior, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers.
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.
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.
Who cites it
22 citing papers in PubMed, 36 citations in OpenAlex.
- Restless Legs Syndrome in Patients With PMP22-Related Neuropathies.Journal of the peripheral nervous system : JPNS · 2026Article
- Restless Legs Syndrome and Neurological Comorbidities: A Narrative Review.Journal of clinical medicine · 2026Review
- Nerve Enlargement in Patients with INF2 Variants Causing Peripheral Neuropathy and Focal Segmental Glomerulosclerosis.Biomedicines · 2025Article
- Charcot-Marie-Tooth disease in children.Annals of the Child Neurology Society · 2024Review
- Electrophysiological and radiological diagnosis of hereditary motor and sensory polyneuropathy.Journal of family medicine and primary care · 2024Article
- Evaluation of Pathogenicity and Causativity of Variants in theInternational journal of molecular sciences · 2023Article
- Concomitant MPZ and MFN2 Gene Variants and Charcot Marie Tooth Disease in a Boy: Clinical and Genetic Analysis-Literature Review.Case reports in pediatrics · 2022Article
- Morc2a p.S87L mutant mice develop peripheral and central neuropathies associated with neuronal DNA damage and apoptosis.Disease models & mechanisms · 2021Article
- A review and analysis of the clinical literature on Charcot-Marie-Tooth disease caused by mutations in neurofilament protein L.Cytoskeleton (Hoboken, N.J.) · 2021Review
- Impaired Mitochondrial Mobility in Charcot-Marie-Tooth Disease.Frontiers in cell and developmental biology · 2021Article
- A Search for Undiagnosed Charcot-Marie-Tooth Disease Among Patients Registered with Unspecified Polyneuropathy in the Danish National Patient Registry.Clinical epidemiology · 2021Article
- Developmental demands contribute to early neuromuscular degeneration in CMT2D mice.Cell death & disease · 2020Article
- PMP22 Gene-Associated Neuropathies: Phenotypic Spectrum in a Cohort from India.Journal of molecular neuroscience : MN · 2020Article
- Whole exome sequencing establishes diagnosis of Charcot-Marie-Tooth 4J, 1C, and X1 subtypes.Molecular genetics & genomic medicine · 2020Article
- Identification of a rare SEPT9 variant in a family with autosomal dominant Charcot-Marie-Tooth disease.BMC medical genetics · 2020Article
- Charcot-Marie-Tooth: From Molecules to Therapy.International journal of molecular sciences · 2019Review
- Charcot-Marie-Tooth disease Type 2E/1F mutant neurofilament proteins assemble into neurofilaments.Cytoskeleton (Hoboken, N.J.) · 2019Article
- Hereditary Neuropathies.Deutsches Arzteblatt international · 2018Review
- Inverted formins: A subfamily of atypical formins.Cytoskeleton (Hoboken, N.J.) · 2017Review
- Genetic and clinical characteristics ofJournal of neurology, neurosurgery, and psychiatry · 2017Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
11 authors at 4 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
introductionCharcot-Marie-Tooth neuropathy (CMT) is a genetically heterogeneous group of peripheral neuropathies. In addition to the classical clinical phenotype, additional features can occur.
methodsWe studied a wide range of additional features in a cohort of 49 genetically confirmed CMT patients and performed a systematic literature revision.
resultsPatients harbored a PMP22 gene alteration (n = 28) or a mutation in MPZ (n = 11), GJB1 (n = 4), LITAF (n = 2), MFN2 (n = 2), INF2 (n = 1), NEFL (n = 1). We identified four novel mutations (3 MPZ, 1 GJB1). A total of 88% presented at least one additional feature. In MPZ patients, we detected hypertrophic nerve roots in 3/4 cases that underwent spinal MRI, and pupillary abnormalities in 27%. In our cohort, restless legs syndrome (RLS) was present in 18%. We describe for the first time RLS associated with LITAF or MFN2 and predominant upper limb involvement with LITAF. Cold-induced hand cramps occurred in 10% (PMP22,MPZ,MFN2), and autonomous nervous system involvement in 18% (PMP22,MPZ, LITAF,MFN2). RLS and respiratory insufficiency were mostly associated with severe neuropathy, and pupillary abnormalities with mild to moderate neuropathy.
conclusionsIn CMT patients, additional features occur frequently. Some of them might be helpful in orienting genetic diagnosis. Our data broaden the clinical spectrum and genotype-phenotype associations with CMT.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
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.