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

FIG4-Related Parkinsonism and the Particularities of the I41T Mutation: A Review of the Literature.

Genes - 21 Oct 2024

Boura Iro, Giannopoulou Irene Areti, Pavlaki Vasiliki, Xiromerisiou Georgia, Mitsias Panayiotis, Spanaki Cleanthe

Abstract excerpt

Background/Objectives: The genetic underpinnings of Parkinson's disease (PD) and parkinsonism have drawn increasing attention in recent years. Mutations in the Factor-Induced Gene 4 (FIG4) have been implicated in various neurological disorders, including Charcot-Marie-Tooth disease type 4J (CMT4J), amyotrophic lateral sclerosis (ALS), and Yunis-Varón syndrome. This review aims to explore the association between...

Read the complete abstract on PubMed

Topics

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

Share to Cellular transport and secretion
Share to Charcot-Marie-Tooth Disease

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Flavoproteins

Share to Mutation

Share to Mutation, Missense

Share to Parkinson's Disease Mechanisms and Treatments

Share to Parkinsonian Disorders

Share to Phosphoric Monoester Hydrolases

Source

Open in PubMed Open full text

Identifiers

PMID: 39457468
DOI: 10.3390/genes15101344
PMCID: PMC11507139

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

FIG4-Related Parkinsonism and the Particularities of the I41T Mutation: A Review of the Literature.PMID 39457468Read ↗

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

Clinical and genetic features of patients suffering from CMT4J.Semantic proximity Read ↗

Update on genetics of parkinsonism.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 ↗

"Atypical" atypical parkinsonism: new genetic conditions presenting with features of progressive supranuclear palsy, corticobasal degeneration, or multiple system atrophy-a diagnostic guide.Semantic proximity Read ↗

Parkinson’s disease and multiple system atrophy are gateways to <i>RFC1</i>-related disordersSemantic proximity Read ↗

Mutation of FIG4 causes a rapidly progressive, asymmetric neuronal degeneration.Semantic proximity Read ↗

X-linked recessive dystonia parkinsonism (XDP; Lubag; DYT3).Semantic proximity Read ↗

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

Translation initiator EIF4G1 mutations in familial Parkinson disease.Semantic proximity Read ↗

VCP-related multisystem proteinopathy presenting as early-onset Parkinson disease.Semantic proximity Read ↗

GIGYF2 mutation in late-onset Parkinson’s disease with cognitive impairmentSemantic proximity Read ↗

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