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Relationship of Genotype, Phenotype, and Treatment in Dopa-Responsive Dystonia: MDSGene Review.
Weissbach A, Pauly MG, Herzog R, Hahn L, Halmans S, Hamami F, Bolte C, Camargos S, Jeon B, Kurian MA, Opladen T, Brüggemann N, Huppertz HJ, König IR, Klein C, Lohmann K. Weissbach A, et al. Mov Disord. 2022 Feb;37(2):237-252. doi: 10.1002/mds.28874. Epub 2021 Dec 15. Mov Disord. 2022. PMID: 34908184 Review.
BACKGROUND: Pathogenic variants in 5 genes (GCH1, TH, PTS, SPR, and QDPR), involved in dopamine/tetrahydrobiopterin biosynthesis or recycling, have been linked to Dopa-responsive dystonia (DRD). Diagnosis and treatment are often delayed due to high between- a …
BACKGROUND: Pathogenic variants in 5 genes (GCH1, TH, PTS, SPR, and QDPR), involved in dopamine/tetrahydrobiopterin biosynthesis or recyclin …
Sleep in patients with primary dystonia: A systematic review on the state of research and perspectives.
Hertenstein E, Tang NK, Bernstein CJ, Nissen C, Underwood MR, Sandhu HK. Hertenstein E, et al. Sleep Med Rev. 2016 Apr;26:95-107. doi: 10.1016/j.smrv.2015.04.004. Epub 2015 May 9. Sleep Med Rev. 2016. PMID: 26164369 Review.
In total, the included studies reported on 708 patients diagnosed with focal dystonia (cervical dystonia or blepharospasm), torsion dystonia, and dopa-responsive dystonia. The results indicate that at least half of the patients with focal cranial dystonia suf …
In total, the included studies reported on 708 patients diagnosed with focal dystonia (cervical dystonia or blepharospasm), torsion dystonia …
The treatment of dystonic tremor: a systematic review.
Fasano A, Bove F, Lang AE. Fasano A, et al. J Neurol Neurosurg Psychiatry. 2014 Jul;85(7):759-69. doi: 10.1136/jnnp-2013-305532. Epub 2013 Oct 28. J Neurol Neurosurg Psychiatry. 2014. PMID: 24167042 Review.
As for the other tremors, drug efficacy was generally disappointing and a moderate effect was only found with anticholinergics, tetrabenazine, clonazepam, beta-blockers and primidone; levodopa was only efficacious on tremor due to dopa-responsive dystonia. Th …
As for the other tremors, drug efficacy was generally disappointing and a moderate effect was only found with anticholinergics, tetrabenazin …
Early-onset autosomal dominant GTP-cyclohydrolase I deficiency: Diagnostic delay and residual motor signs.
Kim W, Cho JS, Shim YK, Ko YJ, Choi SA, Kim SY, Kim H, Lim BC, Hwang H, Choi J, Kim KJ, Kim MJ, Seong MW, Chae JH. Kim W, et al. Brain Dev. 2021 Aug;43(7):759-767. doi: 10.1016/j.braindev.2021.02.006. Epub 2021 Apr 17. Brain Dev. 2021. PMID: 33875303
OBJECTIVE: Autosomal dominant (AD) guanosine triphosphate cyclohydrolase 1 (GCH1) deficiency is the most common cause of dopa-responsive dystonia (DRD). Patients with GCH1 deficiency are likely to experience diagnostic delay, but its consequences have not bee …
OBJECTIVE: Autosomal dominant (AD) guanosine triphosphate cyclohydrolase 1 (GCH1) deficiency is the most common cause of dopa-resp …