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Dopa responsive dystonia

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https://www.readbyqxmd.com/read/29225908/an-unusual-presentation-of-tyrosine-hydroxylase-deficiency
#1
Linn E Katus, Steven J Frucht
Background: Dopa-responsive dystonia (DRD) has largely been associated with autosomal dominant mutations in the GCH1 gene leading to GTP cyclohydrolase 1 deficiency. More recently, a deficiency in tyrosine hydroxylase (TH) has been recognized to cause DRD. This is a rare disorder resulting from genetic mutations in the TH gene on chromosome 11. The phenotype ranges from DRD with complete resolution on levodopa to infantile parkinsonism and encephalopathy only partially responsive to levodopa...
2017: Journal of Clinical Movement Disorders
https://www.readbyqxmd.com/read/29174366/dnajc12-deficiency-a-new-strategy-in-the-diagnosis-of-hyperphenylalaninemias
#2
REVIEW
Nenad Blau, Aurora Martinez, Georg F Hoffmann, Beat Thöny
Patients with hyperphenylalaninemia (HPA) are detected through newborn screening for phenylketonuria (PKU). HPA is known to be caused by deficiencies of the enzyme phenylalanine hydroxylase (PAH) or its cofactor tetrahydrobiopterin (BH4). Current guidelines for the differential diagnosis of HPA would, however, miss a recently described DNAJC12 deficiency. The co-chaperone DNAJC12 is, together with the 70kDa heat shock protein (HSP70), responsible for the proper folding of PAH. All DNAJC12-deficient patients investigated to date responded to a challenge with BH4 by lowering their blood phenylalanine levels...
November 20, 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/29147684/c-207c-g-mutation-in-sepiapterin-reductase-causes-autosomal-dominant-dopa-responsive-dystonia
#3
Ali S Shalash, Thomas W Rösler, Stefanie H Müller, Mohamed Salama, Günther Deuschl, Ulrich Müller, Thomas Opladen, Britt-Sabina Petersen, Andre Franke, Franziska Hopfner, Gregor Kuhlenbäumer, Günter U Höglinger
Objective: To elucidate the genetic cause of an Egyptian family with dopa-responsive dystonia (DRD), a childhood-onset dystonia, responding therapeutically to levodopa, which is caused by mutations in various genes. Methods: Rare variants in all coding exons of GCH1 were excluded by Sanger sequencing. Exome sequencing was applied for 1 unaffected and 2 affected family members. To investigate the functional consequences of detected genetic variants, urinary sepiapterin concentrations were determined by high-performance liquid chromatography...
December 2017: Neurology. Genetics
https://www.readbyqxmd.com/read/29066160/non-motor-symptoms-and-quality-of-life-in-dopa-responsive-dystonia-patients
#4
E R Timmers, A Kuiper, M Smit, A L Bartels, D J Kamphuis, N I Wolf, B T Poll-The, T Wassenberg, E A J Peeters, T J de Koning, M A J Tijssen
BACKGROUND: In patients with GTP-cyclohydrolase deficient dopa-responsive dystonia (DRD) the occurrence of associated non-motor symptoms (NMS) is to be expected. Earlier studies report conflicting results with regard to the nature and severity of NMS. The aim of our study was to investigate the prevalence of psychiatric disorders, sleep problems, fatigue and health-related quality of life (HR-QoL) in a Dutch DRD cohort. METHODS: Clinical characteristics, motor symptoms, type and severity of psychiatric co-morbidity, sleep problems, fatigue and HR-QoL were assessed in DRD patients with a confirmed GCH1 mutation and matched controls...
October 10, 2017: Parkinsonism & related Disorders
https://www.readbyqxmd.com/read/28958832/gch1-mutations-are-common-in-serbian-patients-with-dystonia-parkinsonism-challenging-previously-reported-prevalence%C3%A2-rates-of-dopa-responsive-dystonia
#5
Valerija Dobričić, Aleksandra Tomić, Vesna Branković, Nikola Kresojević, Milena Janković, Ana Westenberger, Vedrana Milić Rašić, Christine Klein, Ivana Novaković, Marina Svetel, Vladimir S Kostić
BACKGROUND: GTP cyclohydrolase 1-deficient DOPA-responsive dystonia, caused by autosomal dominant mutation in the gene coding for GTP cyclohydrolase 1, is a rare disorder with a reported prevalence of 0.5 per million. A correct diagnosis of DRD is crucial, given that this is an exquisitely treatable neurogenetic disorder. Although genetic testing is now widely available, we hypothesize that DRD is still underdiagnosed and its prevalence underestimated. METHODS: Molecular genetic analysis of the GCH1 gene was performed in a representative cohort of 47 Serbian patients with clinical features of DRD and in their 16 available relatives...
September 18, 2017: Parkinsonism & related Disorders
https://www.readbyqxmd.com/read/28949038/parkinsonism-without-dopamine-neuron-degeneration-in-aged-l-dopa-responsive-dystonia-knockin-mice
#6
Samuel J Rose, Porter Harrast, Christine Donsante, Xueliang Fan, Valerie Joers, Malú G Tansey, H A Jinnah, Ellen J Hess
BACKGROUND: Recent neuroimaging studies implicate nigrostriatal degeneration as a critical factor in producing late-onset parkinsonism in patients with l-dopa-responsive dystonia-causing mutations. However, postmortem anatomical studies do not reveal neurodegeneration in l-dopa-responsive dystonia patients. These contrasting findings make it unclear how parkinsonism develops in l-dopa-responsive dystonia mutation carriers. METHODS: We prospectively assessed motor dysfunction, responses to dopaminergic challenge, and dopamine neuron degeneration with aging in a validated knockin mouse model bearing a l-dopa-responsive dystonia-causing mutation found in humans...
September 26, 2017: Movement Disorders: Official Journal of the Movement Disorder Society
https://www.readbyqxmd.com/read/28904579/dopa-responsive-dystonia-in-a-child-misdiagnosed-as-cerebral-palsy
#7
Dinkar Kulshreshtha, Pradeep K Maurya, Ajai K Singh, Anup K Thacker
Dopa-responsive dystonia also known as "Segawa's syndrome" was first described in 1976. The dystonia typically shows diurnal variations and is more marked toward the end of the day and improves in sleep. This entity is often misdiagnosed in the clinical setting, mostly due to the lack of awareness, and these patients are exposed to various treatment regimens and nonpharmacological measures. We present a boy being treated as dystonic cerebral palsy who showed significant improvement in dystonic symptoms with L-dopa therapy...
April 2017: Journal of Pediatric Neurosciences
https://www.readbyqxmd.com/read/28892570/dnajc12-and-dopa-responsive-nonprogressive-parkinsonism
#8
Letizia Straniero, Ilaria Guella, Roberto Cilia, Laura Parkkinen, Valeria Rimoldi, Alexander Young, Rosanna Asselta, Giulia Soldà, Vesna Sossi, A Jon Stoessl, Alberto Priori, Kenya Nishioka, Nobutaka Hattori, Jordan Follett, Alex Rajput, Nenad Blau, Gianni Pezzoli, Matthew J Farrer, Stefano Goldwurm, Ali H Rajput, Stefano Duga
Biallelic DNAJC12 mutations were described in children with hyperphenylalaninemia, neurodevelopmental delay, and dystonia. We identified DNAJC12 homozygous null variants (c.187A>T;p.K63* and c.79-2A>G;p.V27Wfs*14) in two kindreds with early-onset parkinsonism. Both probands had mild intellectual disability, mild nonprogressive, motor symptoms, sustained benefit from small dose of levodopa, and substantial worsening of symptoms after levodopa discontinuation. Neuropathology (Proband-A) revealed no alpha-synuclein pathology, and substantia nigra depigmentation with moderate cell loss...
October 2017: Annals of Neurology
https://www.readbyqxmd.com/read/28861905/treatable-inherited-rare-movement-disorders
#9
REVIEW
H A Jinnah, Alberto Albanese, Kailash P Bhatia, Francisco Cardoso, Gustavo Da Prat, Tom J de Koning, Alberto J Espay, Victor Fung, Pedro J Garcia-Ruiz, Oscar Gershanik, Joseph Jankovic, Ryuji Kaji, Katya Kotschet, Connie Marras, Janis M Miyasaki, Francesca Morgante, Alexander Munchau, Pramod Kumar Pal, Maria C Rodriguez Oroz, Mayela Rodríguez-Violante, Ludger Schöls, Maria Stamelou, Marina Tijssen, Claudia Uribe Roca, Andres de la Cerda, Emilia M Gatto
There are many rare movement disorders, and new ones are described every year. Because they are not well recognized, they often go undiagnosed for long periods of time. However, early diagnosis is becoming increasingly important. Rapid advances in our understanding of the biological mechanisms responsible for many rare disorders have enabled the development of specific treatments for some of them. Well-known historical examples include Wilson disease and dopa-responsive dystonia, for which specific and highly effective treatments have life-altering effects...
September 1, 2017: Movement Disorders: Official Journal of the Movement Disorder Society
https://www.readbyqxmd.com/read/28620849/clinical-management-of-dystonia-in-childhood
#10
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
#11
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
#12
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
#13
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
#14
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
#15
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
#16
REVIEW
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
#17
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
#18
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
#19
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
#20
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
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