Tubulin beta-4A (TUBB4A)
TUBB4A is a beta-tubulin, and TUBB4A-related disease is clinically distinct from the other tubulinopathies.
TUBB4A mutations were originally linked to dystonia type 4 also known as whispering dysphonia. This is a neurologic voice disorder characterized by spasms of the voice box muscles which causes difficulty speaking.
Soon after, TUBB4A variants were also identified in individuals with hypomyelination, usually presents in the late childhood or adulthood. Hypomyelination described a reduction of the insulation surrounding neurons, which enables them to communicate with each other effectively). In more severe instances, hypomyelination is often accompanied by atrophy (shrinkage) of the basal ganglia and cerebellum, commonly shortened to H-ABC.
For more detailed information regarding Hypomyelination with atrophy of the basal ganglia and cerebellum, please visit our partners Foundation to Fight H-ABC.