A Novel TUBB2A Variant Causing Ataxia With Preserved Ambulation Into Adulthood.
João Cláudio da Costa Urbano, Sérgio Roberto Pereira da Silva Júnior, Matheus Augusto Araújo Castro et al.
✦ AI-curated · Sources linked
Case in brief
A 40-year-old man presented with global developmental delay, intellectual disability, myoclonic epilepsy, and cerebellar ataxia. Exome sequencing identified a likely pathogenic variant in TUBB2A, specifically NM_001069.3: c.620 T>C;p.(Leu207Pro). Notably, the patient exhibited preserved ambulation into adulthood, a milder phenotype not previously documented in TUBB2A tubulinopathy.
Diagnostic / clinical pearl
Clinicians should consider TUBB2A variants in patients with ataxia and developmental delays, as this case highlights a milder phenotype with preserved ambulation.
Why it matters
This case expands the phenotypic spectrum of TUBB2A tubulinopathy, emphasizing the need for awareness of atypical presentations in clinical practice.