Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Clinical and genetic features of patients suffering from CMT4J.

Journal of neurology - 1 Mar 2024

Beloribi-Djefaflia Sadia, Morales Raul Juntas, Fatehi Farzad, Isapof Arnaud, Servais Laurent, Leonard-Louis Sarah, Michaud Maud, Verdure Pierre, Gidaro Teresa, Pouget Jean, Poinsignon Vianney, Bonello-Palot Nathalie, Attarian Shahram

Abstract excerpt

Mutations in the FIG4 gene have been identified in various diseases, including amyotrophic lateral sclerosis, Parkinson's disease, and Charcot-Marie-Tooth 4 J (CMT4J), with a wide range of phenotypic manifestations. We present eight cases of CMT4J patients carrying the p.Ile41Thr mutation of FIG4. The patients were categorized according to their phenotype. Six patients had a pure CMT; whereas, two patients had a...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Adolescent
Share to Amyotrophic Lateral Sclerosis

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Charcot-Marie-Tooth Disease

Share to Flavoproteins

Share to Heterozygote

Share to Mutation

Share to Phenotype

Share to Phosphoric Monoester Hydrolases

Source

Identifiers

PMID: 37950760
DOI: 10.1007/s00415-023-12076-4

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Clinical and genetic features of patients suffering from CMT4J.PMID 37950760Read ↗

FIG4 mutations leading to parkinsonism and a phenotypical continuum between CMT4J and Yunis Varón syndrome.Semantic proximity Read ↗

Distinctive genetic and clinical features of CMT4J: a severe neuropathy caused by mutations in the PI(3,5)P₂ phosphatase FIG4.Semantic proximity Read ↗

FIG4-Related Parkinsonism and the Particularities of the I41T Mutation: A Review of the Literature.Semantic proximity Read ↗

Charcot-Marie-Tooth Disease type 4C: Novel mutations, clinical presentations, and diagnostic challenges.Semantic proximity Read ↗

Charcot-Marie-Tooth disease type 4J with spastic quadriplegia, epilepsy and global developmental delay: a tale of three siblings.Semantic proximity Read ↗

Clinical and radiological characterization of novel FIG4-related combined system disease with neuropathy.Semantic proximity Read ↗

A novel mutation in FGD4 causes Charcot-Marie-Tooth disease type 4H with cranial nerve involvement.Semantic proximity Read ↗

Clinical features of homozygous FIG4-p.Ile41Thr Charcot-Marie-Tooth 4J patients.Semantic proximity Read ↗

Expanding Spectrum of FIG4-Related Neurological Disorders of Lysosomal Homeostasis: Case Report and Overview of the Potential Genotype-Phenotype Correlations.Semantic proximity Read ↗

Phenotypic variability of CMT4C in a French-Canadian kindred.Semantic proximity Read ↗

Characterizing the phenotypic manifestations of MFN2 R104W mutation in Charcot-Marie-Tooth type 2.Semantic proximity Read ↗

A New Mutation in FIG4 Causes a Severe Form of CMT4J Involving TRPV4 in the Pathogenic Cascade.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.