Mild dopa-responsive dystonia in heterozygous tyrosine hydroxylase mutation carrier: Evidence of symptomatic enzyme deficiency?
Details
Serval ID
serval:BIB_C0E23F2B7D7B
Type
Article: article from journal or magazin.
Publication sub-type
Case report (case report): feedback on an observation with a short commentary.
Collection
Publications
Institution
Title
Mild dopa-responsive dystonia in heterozygous tyrosine hydroxylase mutation carrier: Evidence of symptomatic enzyme deficiency?
Journal
Parkinsonism Relat Disord
ISSN
1873-5126 (Electronic)
ISSN-L
1353-8020
Publication state
Published
Issued date
02/2020
Volume
71
Pages
44-45
Language
english
Notes
Bally, Julien F
Breen, David P
Schaake, Susen
Trinh, Joanne
Rakovic, Aleksandar
Klein, Christine
Lang, Anthony E
eng
WT_/Wellcome Trust/United Kingdom
CIHR/Canada
Case Reports
Letter
Research Support, Non-U.S. Gov't
England
Parkinsonism Relat Disord. 2020 Feb;71:44-45. doi: 10.1016/j.parkreldis.2020.01.017. Epub 2020 Jan 30.
Breen, David P
Schaake, Susen
Trinh, Joanne
Rakovic, Aleksandar
Klein, Christine
Lang, Anthony E
eng
WT_/Wellcome Trust/United Kingdom
CIHR/Canada
Case Reports
Letter
Research Support, Non-U.S. Gov't
England
Parkinsonism Relat Disord. 2020 Feb;71:44-45. doi: 10.1016/j.parkreldis.2020.01.017. Epub 2020 Jan 30.
Abstract
We present a case of mild, adult-onset dopa-responsive dystonia (DRD) with a heterozygous mutation in the tyrosine hydroxylase (TH) gene. We propose that this genetic state may have led to partial enzyme deficiency. Future studies should attempt to identify and characterize the phenotype of other patients with single TH variants.
Keywords
Aged, *Dystonic Disorders/diagnosis/enzymology/genetics, Heterozygote, Humans, Male, Severity of Illness Index, *Tyrosine 3-Monooxygenase/deficiency/genetics, *Autosomal recessive, *Dopa-responsive, *Dystonia, *Heterozygote, *Tyrosine hydroxylase, published and is not under review at any other journal. No other related work is, under submission elsewhere. All authors of the paper have participated to the, study, revised the manuscript and approved the final version of the manuscript., There is no ghost writer. There is no financial or any other type of conflict of, interest related to the manuscript.
Pubmed
Create date
21/05/2021 10:09
Last modification date
22/05/2021 6:34
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