Article
Expanding the adult spectrum of TUBB4A disease: a spasticity-tremor phenotype with network imaging correlates.
Neurogenetics - 19 Sept 2026
Hacılar Edis, Samanci Bedia, Ay Ulas, Erzurumluoglu Ebru, Bayram Ali, Sahin Erdi, Barburoglu Mehmet, Yoruk Oner Sanem Sultan, Artan Sevilhan, Hanagasi Hasmet, Bilgic Basar
Abstract excerpt
TUBB4A mutations cause a spectrum of neurological disorders, but adult-onset hereditary spastic paraplegia is rarely described. We characterized a Turkish family with a novel TUBB4A nucleotide variant (c.1023 C > A, p.Phe341Leu) using clinical, genetic, and advanced neuroimaging (VBM, DTI) compared to 15 controls. The proband exhibited late-onset spasticity, tremor and mild frontal executive dysfunction. Routine...
Read the complete abstract on PubMedTopics
- Humans
- Tubulin
- Female
- Phenotype
- Male
- Adult