Mild dopa-responsive dystonia in heterozygous tyrosine hydroxylase mutation carrier: Evidence of symptomatic enzyme deficiency?
Détails
ID Serval
serval:BIB_C0E23F2B7D7B
Type
Article: article d'un périodique ou d'un magazine.
Sous-type
Etude de cas (case report): rapporte une observation et la commente brièvement.
Collection
Publications
Institution
Titre
Mild dopa-responsive dystonia in heterozygous tyrosine hydroxylase mutation carrier: Evidence of symptomatic enzyme deficiency?
Périodique
Parkinsonism Relat Disord
ISSN
1873-5126 (Electronic)
ISSN-L
1353-8020
Statut éditorial
Publié
Date de publication
02/2020
Volume
71
Pages
44-45
Langue
anglais
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.
Résumé
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.
Mots-clé
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
Création de la notice
21/05/2021 10:09
Dernière modification de la notice
22/05/2021 6:34