ArticleNeurology2014
Pathogenic variants in TUBB4A are not found in primary dystonia.
Article in Neurology, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
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Who cites it
5 citing papers in PubMed, 15 citations in OpenAlex.
- The cerebellum in dystonia: key player or background support?Arquivos de neuro-psiquiatria · 2025Review
- TUBB4A mutations result in specific neuronal and oligodendrocytic defects that closely match clinically distinct phenotypes.Human molecular genetics · 2017Article
- Screening study of TUBB4A in isolated dystonia.Parkinsonism & related disorders · 2017Article
- Dystonia-Causing Mutations as a Contribution to the Etiology of Spasmodic Dysphonia.Otolaryngology--head and neck surgery : official journal of American Academy of Otolaryngology-Head and Neck Surgery · 2016Article
- Recent advances in the genetics of dystonia.Current neurology and neuroscience reports · 2014Review
Corrections and comments
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Authors and funding
6 authors at 2 institutions in 2 countries.
Funding
Abstract
objectiveTo determine the contribution of TUBB4A, recently associated with DYT4 dystonia in a pedigree with "whispering dysphonia" from Norfolk, United Kingdom, to the etiopathogenesis of primary dystonia.
methodsHigh-resolution melting and Sanger sequencing were used to inspect the entire coding region of TUBB4A in 575 subjects with primary laryngeal, segmental, or generalized dystonia.
resultsNo pathogenic variants, including the exon 1 variant (c.4C>G) identified in the DYT4 whispering dysphonia kindred, were found in this study.
conclusionThe c.4C>G DYT4 mutation appears to be private, and clinical testing for TUBB4A mutations is not justified in spasmodic dysphonia or other forms of primary dystonia. Moreover, given its allelic association with leukoencephalopathy hypomyelination with atrophy of basal ganglia and cerebellum and protean clinical manifestations (chorea, ataxia, dysarthria, intellectual disability, dysmorphic facial features, and psychiatric disorders), DYT4 should not be categorized as a primary dystonia.
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