Comment on “Mild dopa-responsive dystonia in heterozygous tyrosine hydroxylase mutation carrier: Evidence of symptomatic enzyme deficiency?”

We read with great interest the recent article entitled “Mild dopa-responsive dystonia in heterozygous tyrosine hydroxylase mutation carrier: evidence of symptomatic enzyme deficiency?” written by Bally et al. [1] and would like to comment on this interesting study. The authors found a pathogenic variant (c.296del [p.Leu99Argfs*15]) and a variant of uncertain significance (c.1169C>T [p.Ser390Leu]) in the tyrosine hydroxylase gene (TH), which were confirmed to be present on the same allele, in an adult-onset patient with dopa-responsive dystonia (DRD).

Source: Parkinsonism and Related Disorders - March 31, 2020 Category: Neurology Authors: Yoshiaki Furukawa, Yuji Tomizawa Tags: Correspondence Source Type: research