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

Homozygous TFG gene variants expanding the mutational and clinical spectrum of hereditary spastic paraplegia 57 and a review of literature.

Journal of human genetics - 1 Oct 2021

Khorrami Mehdi, Tabatabaiefar Mohammad Amin, Khorram Erfan, Yaghini Omid, Rezaei Mojgan, Hejazifar Arash, Riahinezhad Maryam, Kheirollahi Majid

Abstract excerpt

In recent years, the tropomyosin-receptor kinase fused gene (TFG) has been linked to diverse hereditary neurodegenerative disorders, including a very rare complex hereditary spastic paraplegia, named spastic paraplegia type 57 (SPG57). Until now, four pathogenic homozygous variants of the TFG gene have been reported associated with SPG57. Two consanguineous Iranian families (1 and 2), the first one with two...

Read the complete abstract on PubMed

Topics

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

Share to Consanguinity
Share to Exome Sequencing

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Homozygote

Share to Mutation, Missense

Share to Optic Atrophy

Share to Proteins

Share to Spastic Paraplegia, Hereditary

Source

Identifiers

PMID: 33767317
DOI: 10.1038/s10038-021-00919-9

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Homozygous TFG gene variants expanding the mutational and clinical spectrum of hereditary spastic paraplegia 57 and a review of literature.PMID 33767317Read ↗

Hereditary spastic paraplegia type 11: Clinicogenetic lessons from 339 patients.Semantic proximity Read ↗

KIF1A-related autosomal dominant spastic paraplegias (SPG30) in Russian families.Semantic proximity Read ↗

Massive sequencing of 70 genes reveals a myriad of missing genes or mechanisms to be uncovered in hereditary spastic paraplegias.Semantic proximity Read ↗

Characterization of a novel TFG variant causing autosomal recessive pure hereditary spastic paraplegia.Semantic proximity Read ↗

Hereditary spastic paraplegias: identification of a novel SPG57 variant affecting TFG oligomerization and description of HSP subtypes in Sudan.Semantic proximity Read ↗

Expanding the Genotypic and Phenotypic Spectrum of AP5Z1-Related Spastic Paraplegia: A Novel Variant and Comprehensive Literature Review.Semantic proximity Read ↗

Novel Genetic, Clinical, and Pathomechanistic Insights into TFG-Associated Hereditary Spastic Paraplegia.Semantic proximity Read ↗

Clinical characteristics and gene mutation analysis of a family with hereditary spastic paraplegia type 11Semantic proximity Read ↗

TFG associated hereditary spastic paraplegia: an addition to the phenotypic spectrum.Semantic proximity Read ↗

Expanding the Phenotypic Spectrum of SPG7 Rare Damaging Variants: Insights From a Hungarian Cohort.Semantic proximity Read ↗

Expanding the clinical spectrum of SPG11 gene mutations in recessive hereditary spastic paraplegia with thin corpus callosum.Semantic proximity Read ↗

Clinical and genetic update of hereditary spastic paraparesis.Semantic proximity Read ↗

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