LAUSR

Annals of Indian Academy of Neurology ¦ Volume 25 ¦ Issue 3 ¦ May-June 2022 565 usually presents in children.[2,4] Our patient was unique in terms of age of disease onset and temporal profile of symptomatology. Her onset of symptoms was in the fifth decade, when she initially had dystonia and was in the DYT4 range of the spectrum, although without typical “whispering dysphonia.” After she developed ataxia, spasticity, cognitive impairment, and eventually, seizures, and her MRI being suggestive of hypomyelination, she manifested features in the H‐ABC range of the spectrum. Previously, the same mutation [c.286G>A(p.Gly96Arg)] was demonstrated in a Japanese patient with hypomyelinating leukodystrophy, whose symptoms started in the second decade with spasticity and dystonia.[5] An overview of the various studies on TUBB4A mutation disease spectrum with their prominent clinical findings is given in Table 1. Notably, our patient had a much later onset and, additionally, developed seizures. One patient of spasmodic dysphonia and oromandibular dystonia and dyskinesia with p.Ala271Thr variant of TUBB4A had onset at 60 years.[3] However, there was no history of ataxia or seizures.