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

Expansion of the spectrum of TUBB4A-related disorders: a new phenotype associated with a novel mutation in the TUBB4A gene.

Neurogenetics - 1 May 2014

Blumkin Lubov, Halevy Ayelet, Ben-Ami-Raichman Dominique, Dahari Dvir, Haviv Ami, Sarit Cohen, Lev Dorit, van der Knaap Marjo S, Lerman-Sagie Tally, Leshinsky-Silver Esther

Abstract excerpt

Mutations in the TUBB4A gene have been identified so far in two neurodegenerative disorders with extremely different clinical features and course: whispering dysphonia, also known as dystonia type 4 (DYT4), and hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC). We describe a patient with slowly progressive spastic paraparesis, segmental dystonia, intellectual disability, behavioral...

Read the complete abstract on PubMed

Topics

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

Share to Child
Share to Heterozygote

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Leukoencephalopathies

Share to Mutation

Share to Neurodegenerative Diseases

Share to Phenotype

Share to Tubulin

Source

Identifiers

PMID: 24526230
DOI: 10.1007/s10048-014-0392-2

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

Expansion of the spectrum of TUBB4A-related disorders: a new phenotype associated with a novel mutation in the TUBB4A gene.PMID 24526230Read ↗

TUBB4A-related hypomyelinating leukodystrophy: New insights from a series of 12 patients.Semantic proximity Read ↗

Motor protein binding and mitochondrial transport are altered by pathogenic TUBB4A variants.Semantic proximity Read ↗

Expanding the phenotypic and genotypic spectrum of DYT-TUBB4A with seven patients from India.Semantic proximity Read ↗

Mosaic dominant TUBB4A mutation in an inbred family with complicated hereditary spastic paraplegia.Semantic proximity Read ↗

Clinical exome sequencing identifies a novel TUBB4A mutation in a child with static hypomyelinating leukodystrophy.Semantic proximity Read ↗

Hypomyelination with atrophy of the basal ganglia and cerebellum: further delineation of the phenotype and genotype-phenotype correlation.Semantic proximity Read ↗

H-ABC- and dystonia-causing TUBB4A mutations show distinct pathogenic effects.Semantic proximity Read ↗

Whispering dysphonia (DYT4 dystonia) is caused by a mutation in the TUBB4 gene.Semantic proximity Read ↗

H-ABC syndrome and DYT4: Variable expressivity or pleiotropy of TUBB4 mutations?Semantic proximity Read ↗

Functional Investigation of TUBB4A Variants Associated with Different Clinical Phenotypes.Semantic proximity Read ↗

Early-onset progressive spastic paraplegia caused by a novel TUBB4A mutation: brain MRI and FDG-PET findings.Semantic proximity Read ↗

Mutations in the autoregulatory domain of β-tubulin 4a cause hereditary dystonia.Semantic proximity Read ↗

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