ArticleBMC neurology2020
A case report of late-onset cerebellar ataxia associated with a rare p.R342W TGM6 (SCA35) mutation.
Article in BMC neurology, 2020. 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, 6 citations in OpenAlex.
- Human Transglutaminases: Updated Insights into Activation Mechanisms, Allosteric Regulation and Disease.International journal of molecular sciences · 2026Review
- Spinocerebellar Ataxia Type 35 Presenting with Dysphagia in a Patient from Saudi Arabia: A Case Report and Literature Review.Cerebellum (London, England) · 2026Review
- Spinocerebellar Ataxia Type 35 Caused by a New TGM6 Variant: Video Documentation of a German Family.Movement disorders clinical practice · 2023Article
- Cervical Dystonia-A Rare Presentation of Spinocerebellar Ataxia Type 35.Indian journal of pediatrics · 2022Article
- Neither a Novel Tau Proteinopathy nor an Expansion of a Phenotype: Reappraising Clinicopathology-Based Nosology.International journal of molecular sciences · 2021Article
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Authors and funding
14 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundMutations in TGM6 gene, encoding for transglutaminase 6 (TG6), have been implicated in the pathogenesis of spinocerebellar ataxia type 35 (SCA35), a rare autosomal dominant disease marked by cerebellar degeneration and characterized by postural instability, incoordination of gait, features of cerebellar dysfunction and pyramidal signs. CASE PRESENTATION: Here we report the case of an Italian patient with late-onset, slowly progressive cerebellar features, including gait ataxia, scanning speech and ocular dysmetria and pyramidal tract signs. Whole exome sequencing revealed the rare heterozygous c.1024C > T (p.R342W) variant of TGM6, located at a highly evolutionary conserved position and predicted as pathogenic by in silico tools. Expression of TG6-R342W mutant in HEK293T cells led to a significant reduction of transamidase activity compared to wild-type TG6.
conclusionThis finding extends SCA35 genetic landscape, highlighting the importance of TGM6 screening in undiagnosed late-onset and slowly progressive cerebellar ataxias.
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