Pathogenic variants in the TUBA4A gene underlie several phenotypes, some of which manifest as muscular symptoms. An international consortium of researchers has compiled the full set of clinical and genetic data from 31 patients with a mutation in this gene, drawn from 19 unrelated families:
- 17 of these families had a purely muscular phenotype, whilst the other two also presented with central nervous system involvement (cerebellar ataxia and epilepsy),
- 12 new TUBA4A variants were identified, in addition to one already known,
- it should be noted that the mode of inheritance could be autosomal dominant or recessive,
- and that the severity of the muscular involvement was highly variable.
The authors link this emerging form of neuromuscular disease to protein overload myopathies, thereby demonstrating the dual central and peripheral tropism of these conditions.
