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

TFG associated hereditary spastic paraplegia: an addition to the phenotypic spectrum.

Neurogenetics - 1 Apr 2017

Tariq Huma, Naz Sadaf

Abstract excerpt

Hereditary spastic paraplegias (HSPs) constitute movement disorders with extreme lower limb spasticity caused by axonopathies of the upper motor neurons. We describe two siblings affected with a recessive form of movement disorder. Whole-exome sequencing revealed a homozygous missense mutation c.64 C>T (p.Arg22Trp) in TFG as cause of the disorder. Comparison of the phenotype of the patients of this study, with...

Read the complete abstract on PubMed

Topics

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

Share to Consanguinity
Share to Homozygote
Share to Mutation, Missense

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Pakistan

Share to Pedigree

Share to Proteins

Share to Siblings

Share to Spastic Paraplegia, Hereditary

Source

Identifiers

PMID: 28124177
DOI: 10.1007/s10048-017-0508-6

Genes

TFG

Variants

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

TFG associated hereditary spastic paraplegia: an addition to the phenotypic spectrum.PMID 28124177Read ↗

Clinical and genetic analysis of ATP13A2 in hereditary spastic paraplegia expands the phenotype.Semantic proximity Read ↗

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

Hereditary spastic paraplegia: new insights into clinical variability and spasticity-ataxia phenotype, and novel mutations.Semantic proximity Read ↗

A novel missense mutation in SPAST causes hereditary spastic paraplegia in male members of a family: A case report.Semantic proximity Read ↗

Whole-genome sequencing of two probands with hereditary spastic paraplegia reveals novel splice-donor region variant and known pathogenic variant in SPG11.Semantic proximity Read ↗

Exome sequencing reveals novel SPG11 mutation in hereditary spastic paraplegia with complicated phenotypes.Semantic proximity Read ↗

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

Hereditary spastic paraplegia: clinico-pathologic features and emerging molecular mechanisms.Semantic proximity Read ↗

Insights into Clinical, Genetic, and Pathological Aspects of Hereditary Spastic Paraplegias: A Comprehensive OverviewSemantic proximity Read ↗

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

Challenges and Controversies in the Genetic Diagnosis of Hereditary Spastic Paraplegia.Semantic proximity Read ↗

New genetic causes for complex hereditary spastic paraplegia.Semantic proximity Read ↗

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