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Dopa responsive dystonia

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https://www.readbyqxmd.com/read/28620849/clinical-management-of-dystonia-in-childhood
#1
REVIEW
Quyen N Luc, Jyes Querubin
Dystonia is one of the most frequent movement disorders in childhood. It can impede normal motor development and cause significant motor disability. The diagnostic evaluation of childhood dystonia is challenging due to the phenotypic variability and heterogeneous etiologies. Evidence to guide the diagnostic evaluation and treatment is limited. Assessment is primarily directed by clinical history and distinctive examination findings. Neuroimaging is typically necessary to evaluate for acquired or complex inherited dystonias...
June 15, 2017: Paediatric Drugs
https://www.readbyqxmd.com/read/28587876/strength-of-cholinergic-tone-dictates-the-polarity-of-dopamine-d2-receptor-modulation-of-striatal-cholinergic-interneuron-excitability-in-dyt1-dystonia
#2
Mariangela Scarduzio, Chelsea N Zimmerman, Karen L Jaunarajs, Qin Wang, David G Standaert, Lori L McMahon
Balance between cholinergic and dopaminergic signaling is central to striatal control of movement and cognition. In dystonia, a common disorder of movement, anticholinergic therapy is often beneficial. This observation suggests there is a pathological increase in cholinergic tone, yet direct confirmation is lacking. In DYT1, an early-onset genetic form of dystonia caused by a mutation in the protein torsinA (TorA), the suspected heightened cholinergic tone is commonly attributed to faulty dopamine D2 receptor (D2R) signaling where D2R agonists cause excitation of striatal cholinergic interneurons (ChIs), rather than the normal inhibition of firing observed in wild-type animals, an effect known as "paradoxical excitation"...
September 2017: Experimental Neurology
https://www.readbyqxmd.com/read/28558098/complex-and-dynamic-chromosomal-rearrangements-in-a-family-with-seemingly-non-mendelian-inheritance-of-dopa-responsive-dystonia
#3
Katja Lohmann, Claire Redin, Holger Tönnies, Susan B Bressman, Jose Ignacio Martin Subero, Karin Wiegers, Frauke Hinrichs, Yorck Hellenbroich, Aleksandar Rakovic, Deborah Raymond, Laurie J Ozelius, Eberhard Schwinger, Reiner Siebert, Michael E Talkowski, Rachel Saunders-Pullman, Christine Klein
Importance: Chromosomal rearrangements are increasingly recognized to underlie neurologic disorders and are often accompanied by additional clinical signs beyond the gene-specific phenotypic spectrum. Objective: To elucidate the causal genetic variant in a large US family with co-occurrence of dopa-responsive dystonia as well as skeletal and eye abnormalities (ie, ptosis, myopia, and retina detachment). Design, Setting, and Participants: We examined 10 members of a family, including 5 patients with dopa-responsive dystonia and skeletal and/or eye abnormalities, from a US tertiary referral center for neurological diseases using multiple conventional molecular methods, including fluorescence in situ hybridization and array comparative genomic hybridization as well as large-insert whole-genome sequencing to survey multiple classes of genomic variations...
July 1, 2017: JAMA Neurology
https://www.readbyqxmd.com/read/28397219/-analysis-of-clinical-phenotype-and-cgh1-gene-mutations-in-a-family-affected-with-dopa-responsive-dystonia
#4
Yaping Yan, Xiaohong Chen, Wei Luo
OBJECTIVE: To explore genetic mutations and clinical features of a pedigree affected with dopa-responsive dystonia. METHODS: PCR and Sanger sequencing were applied to detect mutations of the GCH1 gene among 7 members from the pedigree. RESULTS: The family was detected to have a known heterozygous mutation of the GCH1 gene (c.550C>T). For the 7 members from the pedigree, the age of onset has ranged from 13 to 60 years. The mother of the proband has carried the same mutation but was still healthy at 80...
April 10, 2017: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/28389587/l-dopa-in-dystonia-a-modern-perspective
#5
REVIEW
Roderick P P W M Maas, Tessa Wassenberg, Jean-Pierre Lin, Bart P C van de Warrenburg, Michèl A A P Willemsen
"Every child exhibiting dystonia merits an l-dopa trial, lest the potentially treatable condition of dopa-responsive dystonia (DRD) is missed" has been a commonly cited and highly conserved adage in movement disorders literature stemming from the 1980s. We here provide a historical perspective on this statement, discuss the current diagnostic and therapeutic applications of l-dopa in everyday neurologic practice, contrast these with its approved indications, and finish with our view on both a diagnostic and therapeutic trial in children and adults with dystonia...
May 9, 2017: Neurology
https://www.readbyqxmd.com/read/28366877/translational-effects-and-coding-potential-of-an-upstream-open-reading-frame-associated-with-dopa-responsive-dystonia
#6
Lataisia Jones, Lacy Goode, Eduardo Davila, Amber Brown, Deirdre M McCarthy, Nutan Sharma, Pradeep G Bhide, Ioanna A Armata
Upstream open reading frames (uORFs) have emerged as major post-transcriptional regulatory elements in eukaryotic species. In general, uORFs are initiated by a translation start codon within the 5' untranslated region of a gene (upstream ATG; uATG), and they are negatively correlated with translational efficiency. In addition to their translational regulatory role, some uORFs can code for biologically active short peptides. The importance of uATGs/uORFs is further underscored by human diseases associated with single nucleotide polymorphisms (SNPs), which disrupt existing uORFs or introduce novel uORFs...
March 31, 2017: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/28166704/anesthetic-considerations-in-scoliosis-patient-with-dopa-responsive-dystonia-or-segawa-s-syndrome
#7
M Shahnaz Hasan, Kok Weng Leong, Chris Yin Wei Chan, Mun Keong Kwan
Segawa's syndrome or dopa-responsive dystonia is a rare hereditary disorder characterized by progressive dystonia of childhood onset, diurnal fluctuation of symptoms and complete or near complete alleviation of symptoms with administration of low-dose oral levodopa. From our literature search in PubMed, we found only three related publications: two on anesthesia for cesarean section and one on anesthesia for electroconvulsive therapy. We report our experience in providing anesthesia for corrective scoliosis surgery in two biological sisters with Segawa's syndrome...
January 2017: Journal of Orthopaedic Surgery
https://www.readbyqxmd.com/read/28087438/dopa-responsive-dystonia-in-chinese-patients-including-a-novel-heterozygous-mutation-in-the-gch1-gene-with-an-intermediate-phenotype-and-one-case-of-prenatal-diagnosis
#8
Wen Zhang, Zhizi Zhou, Xiuzhen Li, Yonglan Huang, Taolin Li, Yunting Lin, Yongxian Shao, Hao Hu, Hongsheng Liu, Li Liu
Dopa-responsive dystonia (DRD) is a rare inherited disorder characterized by childhood-onset dystonia with diurnal fluctuation and dramatic response to levodopa. DRD is caused by the mutations in the genes encoding the enzymes involved in the dopamine and tetrahydrobiopterin (BH4) biosynthesis, including the GTP cyclohydrolase 1 (GCH1) gene and the tyrosine hydroxylase (TH) gene. In order to improve the diagnosis and expand the knowledge of the disease, we collected and analyzed relevant data of clinical diagnosis and molecular mutational analysis in five Chinese patients with DRD...
January 10, 2017: Neuroscience Letters
https://www.readbyqxmd.com/read/27956461/l-dopa-therapy-interferes-with-urine-catecholamine-analysis-in-children-with-suspected-neuroblastoma-a-case-series
#9
Alison U Kelly, Rajeev Srivastava, Ellie Dow, D Fraser Davidson
Neuroblastoma is the most common solid extracranial malignancy diagnosed in childhood. Clinical presentation is variable, and metastatic disease is common at diagnosis. Analyses of urinary catecholamines and their metabolites are commonly requested as a first-line investigation when clinical suspicion exists. Levodopa (L-Dopa) therapy is utilized as a treatment for a number of disorders in childhood, including Dopa-responsive dystonia. Neuroblastoma may mimic some of the clinical features of this disorder. L-Dopa can interfere with analysis of urinary catecholamines and their metabolites and complicate the interpretation of results...
September 2017: Annals of Clinical Biochemistry
https://www.readbyqxmd.com/read/27869329/novel-compound-heterozygous-synaptojanin-1-mutation-causes-l-dopa-responsive-dystonia-parkinsonism-syndrome
#10
Marc-Alexander Rauschendorf, Meike Jost, Friedrich Stock, Andreas Zimmer, Bernd Rösler, Michel Rijntjes, Tobias Piroth, Volker Arnd Coenen, Peter Christoph Reinacher, Philipp T Meyer, Lars Frings, Cornelius Weiller, Judith Fischer, Stephan Klebe
No abstract text is available yet for this article.
November 21, 2016: Movement Disorders: Official Journal of the Movement Disorder Society
https://www.readbyqxmd.com/read/27825543/mild-parkinsonian-features-in-dystonia-literature-review-mechanisms-and-clinical-perspectives
#11
REVIEW
Lucy Haggstrom, Paul Darveniza, Stephen Tisch
Dystonia is a hyperkinetic movement disorder that can be highly stigmatizing and disabling. Substantial evidence from animal models, neuropathological, neurophysiological, neuroimaging and clinical studies emphasizes the role of dopaminergic dysfunction in the pathophysiology of dystonia, illustrating possible pathophysiological overlap with parkinsonism. Furthermore, basal ganglia dysfunction has been implicated in the pathogenesis of dystonia, and is well established to underlie the manifestations of Parkinson's disease...
February 2017: Parkinsonism & related Disorders
https://www.readbyqxmd.com/read/27743838/deep-brain-stimulation-in-rare-inherited-dystonias
#12
Isabelle Beaulieu-Boire, Camila C Aquino, Alfonso Fasano, Yu-Yan Poon, Melanie Fallis, Antony E Lang, Mojgan Hodaie, Suneil K Kalia, Andres Lozano, Elena Moro
BACKGROUND: Rare causes of inherited movement disorders often present with a debilitating phenotype of dystonia, sometimes combined with parkinsonism and other neurological signs. Since these disorders are often resistant to medications, DBS may be considered as a possible treatment. METHODS: Patients with identified genetic diseases (ataxia-telangiectasia, chorea-achantocytosis, dopa-responsive dystonia, congenital nemaline myopathy, methylmalonic aciduria, neuronal ceroid lipofuscinosis, spinocerebellar ataxia types 2 and 3, Wilson's disease, Woodhouse-Sakati syndrome, methylmalonic aciduria, and X trisomy) and disabling dystonia underwent bilateral GPi DBS (bilateral thalamic Vim nucleus in 1 case)...
November 2016: Brain Stimulation
https://www.readbyqxmd.com/read/27731537/transcranial-sonography-in-dopa-responsive-dystonia
#13
M Svetel, A Tomić, M Mijajlović, V Dobričić, I Novaković, T Pekmezović, L Brajković, V S Kostić
BACKGROUND AND PURPOSE: Mutations in the GCH1 gene, encoding GTP cyclohydrolase 1, the enzyme critically important for dopamine production in nigrostriatal neurons, are the most common cause of dopa-responsive dystonia (DRD), characterized predominantly by limb dystonia, although parkinsonian features may also be present. It has been suggested that DRD is a neurochemical rather than neurodegenerative disorder. METHODS: Transcranial brain sonography, which might be a risk marker for nigral injury, was obtained from 141 subjects divided into four groups: (i) 11 patients with genetically confirmed DRD; (ii) 55 consecutive patients with Parkinson's disease (PD); (iii) 30 patients diagnosed as isolated adult-onset focal dystonia; and (iv) 45 healthy controls (HCs)...
January 2017: European Journal of Neurology: the Official Journal of the European Federation of Neurological Societies
https://www.readbyqxmd.com/read/27727826/dopa-responsive-dystonia-a-case-presentation-and-literature-review
#14
Baishampayan Goswami
No abstract text is available yet for this article.
January 2016: Journal of the Association of Physicians of India
https://www.readbyqxmd.com/read/27667361/dopa-responsive-dystonia-or-early-onset-parkinson-disease-genotype-phenotype-correlation
#15
Anna Potulska-Chromik, Dorota Hoffman-Zacharska, Małgorzata Łukawska, Anna Kostera-Pruszczyk
OBJECTIVE: Dopa-responsive dystonia (DRD) is a rare form of hereditary movement disorder with onset in childhood, characterized by gait difficulties due to postural dystonia with marked improvement after low doses of levodopa. Mutations in the GCH1 gene are the most common cause of DRD, however, in some cases when the disease is associated with parkinsonism mutations in the PARK2 gene may be identified. The aim of this study was to analyze and compare genotype-phenotype correlation. MATERIAL/PARTICIPANTS: Four families with inter- and intrafamilial variability of progressive gait dysfunction due to lower limb dystonia occurring in childhood or adolescence were included in the analysis...
January 2017: Neurologia i Neurochirurgia Polska
https://www.readbyqxmd.com/read/27619486/a-novel-tyrosine-hydroxylase-variant-in-a-group-of-chinese-patients-with-dopa-responsive-dystonia
#16
Ya-Ping Yan, Bo Zhang, Yan-Fang Mao, Zhang-Yu Guo, Jun Tian, Guo-Hua Zhao, Jia-Li Pu, Wei Luo, Zhi-Yuan Ouyang, Bao-Rong Zhang
Dopa-responsive dystonia (DRD) comprises a heterogeneous group of movement disorders. A limited number of studies of Chinese patients with DRD have been reported. In the present study, we investigated the clinical and genetic features of 12 Chinese DRD families. Point mutation analysis of the GTP-cyclohydrolase I (GCH1), tyrosine hydroxylase (TH) and sepiapterin reductase (SPR) genes was conducted by direct sequencing. In addition, multiplex ligation-dependent probe amplification targeting GCH1 and TH was performed in "mutation-free" patients...
August 2017: International Journal of Neuroscience
https://www.readbyqxmd.com/read/27488599/a-marked-contrast-between-serotonergic-and-dopaminergic-changes-in-dopa-responsive-dystonia
#17
Yoshiaki Furukawa, Ali H Rajput, Junchao Tong, Yuji Tomizawa, Oleh Hornykiewicz, Stephen J Kish
No abstract text is available yet for this article.
September 6, 2016: Neurology
https://www.readbyqxmd.com/read/27371992/a-female-case-of-aromatic-l-amino-acid-decarboxylase-deficiency-responsive-to-mao-b-inhibition
#18
Karin Kojima, Rie Anzai, Chihiro Ohba, Tomohide Goto, Akihiko Miyauchi, Beat Thöny, Hirotomo Saitsu, Naomichi Matsumoto, Hitoshi Osaka, Takanori Yamagata
BACKGROUND: Aromatic l-amino acid decarboxylase (AADC) deficiency is an autosomal recessive disorder, caused by defects in the DDC gene. AADC catalyzes the synthesis of the neurotransmitters dopamine and serotonin from l-dopa and 5-HT respectively. Most patients are bed ridden for life, with little response to treatment. We now report one female patient who improved her motor and cognitive function after being prescribed a MAO-B inhibitor. CASE: A five years old female presented with the typical clinical features of AADC deficiency...
November 2016: Brain & Development
https://www.readbyqxmd.com/read/27313105/classification-of-dopa-responsive-dystonia-a-patient-s-perspective
#19
Lucy Mottet
No abstract text is available yet for this article.
July 2016: Nature Reviews. Neurology
https://www.readbyqxmd.com/read/27185167/low-frequency-of-gch1-and-th-mutations-in-parkinson-s-disease
#20
Aina Rengmark, Lasse Pihlstrøm, Jan Linder, Lars Forsgren, Mathias Toft
BACKGROUND: The causes of Parkinson's disease (PD) are unknown in the majority of patients. The GCH1 gene encodes GTP-cyclohydrolase I, an important enzyme in dopamine synthesis. Co-occurrence of dopa-responsive dystonia (DRD) and a PD phenotype has been reported in families with GCH1 mutations. Recently, rare coding variants in GCH1 were found to be enriched in PD patients, indicating a role for the enzyme in the neurodegenerative process. METHODS: To further elucidate the contribution of GCH1 mutations to sporadic PD, we examined its coding exons in a targeted deep sequencing study of 509 PD patients (mean age at onset 56...
August 2016: Parkinsonism & related Disorders
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