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Dopa-response dystonia

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https://www.readbyqxmd.com/read/27869329/novel-compound-heterozygous-synaptojanin-1-mutation-causes-l-dopa-responsive-dystonia-parkinsonism-syndrome
#1
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
#2
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...
October 29, 2016: Parkinsonism & related Disorders
https://www.readbyqxmd.com/read/27743838/deep-brain-stimulation-in-rare-inherited-dystonias
#3
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)...
October 4, 2016: Brain Stimulation
https://www.readbyqxmd.com/read/27731537/transcranial-sonography-in-dopa-responsive-dystonia
#4
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)...
October 12, 2016: 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
#5
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
#6
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...
September 12, 2016: 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
#7
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...
October 5, 2016: International Journal of Neuroscience
https://www.readbyqxmd.com/read/27488599/a-marked-contrast-between-serotonergic-and-dopaminergic-changes-in-dopa-responsive-dystonia
#8
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
#9
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...
June 29, 2016: Brain & Development
https://www.readbyqxmd.com/read/27313105/classification-of-dopa-responsive-dystonia-a-patient-s-perspective
#10
Lucy Mottet
No abstract text is available yet for this article.
July 2016: Nature Reviews. Neurology
https://www.readbyqxmd.com/read/27254057/delayed-diagnosis-of-dopa-responsive-dystonia-in-two-siblings
#11
Rahul Jain, Bhaskar Shukla, Medha Mittal
BACKGROUND: Dopa responsive dystonia is characterized by progressive disabling dystonia, diurnal variation and a dramatic response to Levodopa. CASE CHARACTERISTICS: Two siblings presented with regression of motor milestones and hypertonia in lower limbs. History of diurnal variation was present in elder sibling. OUTCOME: Both responded dramatically to Levodopa. The genomic DNA analysis of elder sibling revealed a novel mutation. MESSAGE: A trial of Levodopa should be considered in a child with motor regression with diurnal variation, in the presence of extrapyramidal features...
May 8, 2016: Indian Pediatrics
https://www.readbyqxmd.com/read/27185167/low-frequency-of-gch1-and-th-mutations-in-parkinson-s-disease
#12
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
https://www.readbyqxmd.com/read/27141408/a-commentary-on-the-utility-of-a-new-l-dopa-responsive-dystonia-mouse-model
#13
Samuel J Rose, Ellen J Hess
In a recent issue of Brain, we reported on the generation and characterization of a mouse model of the rare disease L-DOPA-responsive dystonia (DRD). Here, we discuss the utility of these mice for understanding broader disease processes and treatment strategies. Using specific experimental designs that either work "forward" from genetic etiology or "backward" from the symptomatic presentation, we discuss how our data and future work can be used to understand broader themes.
2016: Rare Diseases
https://www.readbyqxmd.com/read/27080360/what-is-not-in-the-name-dopa-responsive-dystonia-may-respond-to-more-than-l-dopa
#14
Jennifer R Friedman
BACKGROUND: Classic L-dopa-responsive dystonia is characterized by the triad of dystonia, diurnal fluctuation of signs, and dramatic response of signs to low-dose L-dopa therapy. Dopa-responsive dystonia succinctly summarizes the relevant clinical features. However, literal application of this label or consideration of dopa-responsive dystonia as a diagnostic end without molecular and/or biochemical definition may contribute to misdiagnosis and incomplete treatment in dopa-responsive conditions that impair synthesis of monoamine neurotransmitters besides dopamine...
June 2016: Pediatric Neurology
https://www.readbyqxmd.com/read/26924167/medication-use-in-childhood-dystonia
#15
Daniel E Lumsden, Margaret Kaminska, Stephen Tomlin, Jean-Pierre Lin
BACKGROUND: Data around current prescription practices in childhood dystonia is limited. Medication use may be limited by side effects, the incidence of which is uncertain. For a large cohort assessed by our supra-regional service we aimed to: i) Review medications used at the point of referral. ii) Determine the prevalence of adverse drug responses (ADR) resulting in discontinuation of drug use. iii) Identify clinical risk factors for ADR. METHODS: Case note review of 278 children with dystonia referred to our service...
December 0: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/26764301/-scans-without-evidence-of-dopamine-deficit-swedds
#16
REVIEW
Yohei Mukai, Miho Murata
Dopamine transporter (DaT) single-photon emission computed tomography (SPECT) and [18F]fluoro-L-DOPA ([18F]DOPA) positron emission tomography (PET) facilitate the investigation of dopaminergic hypofunction in neurodegenerative diseases. DaT SPECT and [18F]DOPA PET have been adopted as survey tools in clinical trials. In a large study on Parkinson's disease, 4-15% of subjects clinically diagnosed with early-stage Parkinson's disease had normal dopaminergic functional imaging scans. These are called Scans without Evidence of Dopamine Deficit (SWEDDs), and are considered to represent a state different from Parkinson's disease...
January 2016: Brain and Nerve, Shinkei Kenkyū No Shinpo
https://www.readbyqxmd.com/read/26400349/han-chinese-patients-with-dopa-responsive-dystonia-exhibit-a-low-frequency-of-exonic-deletion-in-the-gch1-gene
#17
W T Shi, C Y Cai, M S Li, C Ling, W D Li
We identified three novel mutations of the GTP cyclohydrolase 1 (GCH1) gene in patients with familial dopa-responsive dystonia (DRD), but were unable to identify meaningful sporadic mutations in patients with no obvious family DRD background. To investigate whether GCH1 regional deletions account for the etiology of DRD, we screened for heterozygous exonic deletions in DRD families and in patients with sporadic DRD. Multiple ligation-dependent probe amplification analysis and quantitative real-time polymerase chain reaction amplification was performed in all members of our DRD cohort and in controls to detect exonic deletions in GCH1, tyrosine hydroxylase, and the epsilon-sarcoglycan-encoding (SGCE) genes...
2015: Genetics and Molecular Research: GMR
https://www.readbyqxmd.com/read/26276013/brain-catecholamine-depletion-and-motor-impairment-in-a-th-knock-in-mouse-with-type-b-tyrosine-hydroxylase-deficiency
#18
Germaine Korner, Daniela Noain, Ming Ying, Magnus Hole, Marte I Flydal, Tanja Scherer, Gabriella Allegri, Anahita Rassi, Ralph Fingerhut, Damasia Becu-Villalobos, Samyuktha Pillai, Stephan Wueest, Daniel Konrad, Anna Lauber-Biason, Christian R Baumann, Laurence A Bindoff, Aurora Martinez, Beat Thöny
Tyrosine hydroxylase catalyses the hydroxylation of L-tyrosine to l-DOPA, the rate-limiting step in the synthesis of catecholamines. Mutations in the TH gene encoding tyrosine hydroxylase are associated with the autosomal recessive disorder tyrosine hydroxylase deficiency, which manifests phenotypes varying from infantile parkinsonism and DOPA-responsive dystonia, also termed type A, to complex encephalopathy with perinatal onset, termed type B. We generated homozygous Th knock-in mice with the mutation Th-p...
October 2015: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/26230973/premotor-motor-excitability-is-altered-in-dopa-responsive-dystonia
#19
Anne Weissbach, Tobias Bäumer, Norbert Brüggemann, Vera Tadic, Simone Zittel, Bastian Cheng, Götz Thomalla, Christine Klein, Alexander Münchau
BACKGROUND: Dopa-responsive dystonia is clinically dominated by a combination of dystonia and parkinsonism, both known to be associated with abnormal activity in premotor-motor circuits. METHODS: To probe premotor-motor excitability, we used a transcranial magnetic stimulation dual pulse conditioning paradigm in 15 genetically confirmed dopa-responsive dystonia patients and 20 controls under different medication states. We also determined silent periods, short-latency afferent inhibition, interhemispheric inhibition, and short-interval intracortical inhibition and facilitation...
October 2015: Movement Disorders: Official Journal of the Movement Disorder Society
https://www.readbyqxmd.com/read/26220941/a-new-knock-in-mouse-model-of-l-dopa-responsive-dystonia
#20
Samuel J Rose, Xin Y Yu, Ann K Heinzer, Porter Harrast, Xueliang Fan, Robert S Raike, Valerie B Thompson, Jean-Francois Pare, David Weinshenker, Yoland Smith, Hyder A Jinnah, Ellen J Hess
Abnormal dopamine neurotransmission is associated with many different genetic and acquired dystonic disorders. For instance, mutations in genes critical for the synthesis of dopamine, including GCH1 and TH cause l-DOPA-responsive dystonia. Despite evidence that implicates abnormal dopamine neurotransmission in dystonia, the precise nature of the pre- and postsynaptic defects that result in dystonia are not known. To better understand these defects, we generated a knock-in mouse model of l-DOPA-responsive dystonia (DRD) mice that recapitulates the human p...
October 2015: Brain: a Journal of Neurology
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