Evidence map›Paper›PMID 41562385›Full record

ArticleJournal of the peripheral nervous system : JPNS2026

Novel Biallelic PLEKHG5 Variant Associated With Intermediate Charcot-Marie-Tooth Disease: Case Report From South America.

Rafael Oliveira Vidon, Pedro José Tomaselli, Caroline Bittar-Braune, Izabela Jardim Pitta, Glenda Corrêa Borges de Lacerda, Márcia Jardim

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Article in Journal of the peripheral nervous system : JPNS, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

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1citing papers in PubMed
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1 · What the graph read from it

What it found

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2 · The registry

The trial behind it

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3 · Its place in the literature

Who cites it

1 citing paper in PubMed.

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4 · The record

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5 · Who and what money

Authors and funding

6 authors.

Rafael Oliveira VidonNeurology Department, Hospital Universitário Gaffrée e Guinle, Universidade Federal Do Estado Do Rio de Janeiro (UNIRIO), Rio de Janeiro, Brazil.ORCID https://orcid.org/0009-0008-9798-5024
Pedro José TomaselliDepartment of Neurosciences and Behaviour Sciences, School of Medicine of Ribeirão Preto, University of São Paulo, Ribeirão Preto, Brazil.
Caroline Bittar-BrauneNeurology Department, Hospital Universitário Gaffrée e Guinle, Universidade Federal Do Estado Do Rio de Janeiro (UNIRIO), Rio de Janeiro, Brazil.
Izabela Jardim PittaNeurology Department, Hospital Universitário Antônio Pedro, Universidade Federal Fluminense (UFF), Niterói, Brazil.
Glenda Corrêa Borges de LacerdaNeurology Department, Hospital Universitário Gaffrée e Guinle, Universidade Federal Do Estado Do Rio de Janeiro (UNIRIO), Rio de Janeiro, Brazil.
Márcia JardimHospital Universitário Pedro Ernesto, Universidade do Estado do Rio de Janeiro (UERJ), and Oswaldo Cruz Foundation (Fiocruz), Rio de Janeiro, Brazil.ORCID https://orcid.org/0000-0003-1784-6857

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

BACKGROUND AND

aimsBiallelic pathogenic variants in PLEKHG5 are associated with two distinct recessive phenotypes, including distal hereditary motor neuropathy AR type 4 and intermediate Charcot-Marie-Tooth disease type C (CMT). No South American cases have been previously reported.

methodsWe evaluated a male patient with suspected hereditary neuropathy using clinical, electrophysiological, and genetic studies.

resultsSymptoms began at 12 years with progressive distal weakness. At 40 years, he had foot drop, pes cavus, distal atrophy, areflexia, and sensory loss to the knees. Disability scales indicated moderate impairment. Electroneuromyography revealed abolished responses in the lower limbs and motor conduction velocities in the intermediate range (35-40 m/s). Genetic analysis identified the homozygous variant c.59G>A (p.Arg20Gln) in PLEKHG5, currently classified as VUS.

interpretationThis reports presents a case from South American linking a homozygous PLEKHG5 variant to recessive intermediate CMT, expanding the geographic and phenotypic spectrum of PLEKHG5-related neuropathies.

Indexed as

Charcot-Marie-Tooth DiseaseGuanine Nucleotide Exchange FactorsAdultHumansMaleSouth AmericaGuanine Nucleotide Exchange FactorsPLEKHG5 protein, humanCharcot‐Marie‐tooth diseasehereditary neuropathyintermediate CMTPLEKHG5

Identifiers

PMID41562385
PMCPMC12821556

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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.