Article
A Novel TUBB2A Variant Causing Ataxia With Preserved Ambulation Into Adulthood.
American journal of medical genetics. Part A - 1 Oct 2026
da Costa Urbano João Cláudio, da Silva Júnior Sérgio Roberto Pereira, Castro Matheus Augusto Araújo, Nóbrega Paulo Ribeiro, de Vasconcelos José Tarcísio Medeiros, Lucato Leandro Tavares, Kok Fernando, Freua Fernando
Abstract excerpt
Pathogenic TUBB2A variants are known to cause a rare form of autosomal dominant tubulinopathy. Our aim is to expand the phenotypic spectrum of TUBB2A by documenting a milder phenotype caused by a previously unreported pathogenic variant. We report a newly diagnosed case of TUBB2A tubulinopathy with novel clinical findings of ataxia with preserved ambulation into adulthood, in addition to the already...
Read the complete abstract on PubMedTopics
- Humans
- Male
- Tubulin
- Adult
- Phenotype
- Mutation