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Dopamine Responsive Dystonia

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Genotype-phenotype correlations of adult-onset PLA2G6-associated Neurodegeneration: case series and literature review.

Yung-Tsai Chu, Han-Yi Lin, Pei-Lung Chen, Chin-Hsien Lin,

BACKGROUND:Phospholipase A2 group VI (PLA2G6) mutations associated with neurodegeneration (PLAN) manifest as heterogeneous neurodegenerative disorders with variable ages of onset. The genotype-phenotype correlation is not well-established. We aim to describe three adult patients with PLAN and combined these data with results from previous studies to elucidate adult-onset PLA2G6 phenotype-genotype correlations. ... Read more >>

BMC Neurol (BMC Neurology)
[2020, 20(1):101]

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Levodopa-Responsive Chorea: A Review.

Mark Farrenburg, Harsh V Gupta,

Background:Chorea is one of the disabling movement disorders, and the number of drugs which can treat this disorder effectively is limited. Tetrabenazine and deutetrabenazine are the two drugs approved by the US-FDA for the treatment of chorea associated with HD. Levodopa can improve chorea in some disorders, and this review ... Read more >>

Ann Indian Acad Neurol (Annals of Indian Academy of Neurology)
[2020, 23(2):211-214]

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Child Neurology: A young child with an undiagnosed case of dystonia responsive to l-dopa.

Steven P Trau, William B Gallentine, Mohamad A Mikati,

Childhood-onset dystonias are a heterogeneously diverse group. There exists a specific set of dystonias that respond profoundly well to low doses of l-dopa (dopa-responsive dystonia [DRD]). Classical DRD is caused by deficiency of GTP cyclohydrolase 1 or tyrosine hydroxylase, but other conditions can cause dystonias that are partially responsive to ... Read more >>

Neurology (Neurology)
[2020, 94(7):326-328]

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Clinical and Genetic Heterogeneity in a Cohort of Chinese Children With Dopa-Responsive Dystonia.

Yan Chen, Xinhua Bao, Yongxin Wen, Jiaping Wang, Qingping Zhang, Jiayou Yan,

Background: The aim of this study was to investigate the genetic and clinical features of dopa-responsive dystonia (DRD) in China. Method: Characteristics of gene mutations and clinical manifestations of 31 patients diagnosed with DRD were analyzed retrospectively. Result: From January 2000 to January 2019, 31 patients were diagnosed with DRD. ... Read more >>

Front Pediatr (Frontiers in Pediatrics)
[2020, 8:83]

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The neurobiology of treatment-resistant schizophrenia: paths to antipsychotic resistance and a roadmap for future research.

Steven G Potkin, John M Kane, Christoph U Correll, Jean-Pierre Lindenmayer, Ofer Agid, Stephen R Marder, Mark Olfson, Oliver D Howes,

Treatment-resistant schizophrenia (TRS), the persistence of positive symptoms despite ≥2 trials of adequate dose and duration of antipsychotic medication with documented adherence, is a serious clinical problem with heterogeneous presentations. TRS can vary in its onset (at the first episode of psychosis or upon relapse), in its severity, and in ... Read more >>

NPJ Schizophr (NPJ schizophrenia)
[2020, 6(1):1]

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Symptomatic hemiparkinsonism due to extensive middle and posterior fossa arachnoid cyst: case report.

Bernadette Wimmer, Stephanie Mangesius, Klaus Seppi, Sarah Iglseder, Franziska Di Pauli, Martin Ortler, Elke Gizewski, Werner Poewe, Gregor Karl Wenning,

INTRODUCTION:Intracranial neoplasms are an uncommon cause of symptomatic parkinsonism. We here report a patient with an extensive middle and posterior fossa arachnoid cyst presenting with parkinsonism that was treated by neurosurgical intervention. METHODS:Retrospective chart review and clinical examination of the patient. CASE REPORT:This 55-year-old male patient with hemiparkinsonism and recurrent ... Read more >>

BMC Neurol (BMC Neurology)
[2020, 20(1):89]

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Genetic study in a family with dopa-responsive dystonia revealed a novel mutation in sepiapterin reductase gene.

Tawfiq Froukh,

Dopa-responsive dystonia due to sepiapterin reductase deficiency (OMIM#612716) is caused by recessive mutations in the gene encoding sepiapterin reductase (SPR), which plays an important role in the biosynthesis of tetrahydrobiopterin (BH4). One Jordanian patient to first cousin parents is reported in this study. The parents of the proband have recognized ... Read more >>

Pak J Med Sci (Pakistan journal of medical sciences)
[2019, 35(6):1736-1739]

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Author Response to Letter to the Editor.

Jongmok Ha, Boo Suk Na, Jong Hyeon Ahn, Minkyeong Kim, Jae Woo Kim, Jae Hyeok Lee, Jin Whan Cho, Ji Sun Kim, Jinyoung Youn,

Tremor Other Hyperkinet Mov (N Y) (Tremor and other hyperkinetic movements (New York, N.Y.))
[2019, 9:]

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Amyotrophic onset in GCH1 dopa-responsive dystonia.

Seyed Amir Hasan Habibi, Alberto Albanese, Antonio E Elia, Paria Arfa-Fatollahkhani, Neda Hashemi,

Iran J Neurol (Iranian journal of neurology)
[2019, 18(4):181-183]

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TGF-β/Smad3 Signalling Modulates GABA Neurotransmission: Implications in Parkinson's Disease.

Mª Dolores Muñoz, Nerea de la Fuente, Amelia Sánchez-Capelo,

γ-Aminobutiryc acid (GABA) is found extensively in different brain nuclei, including parts involved in Parkinson's disease (PD), such as the basal ganglia and hippocampus. In PD and in different models of the disorder, an increase in GABA neurotransmission is observed and may promote bradykinesia or L-Dopa-induced side-effects. In addition, proteins ... Read more >>

Int J Mol Sci (International journal of molecular sciences)
[2020, 21(2):]

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Generalized Dystonia and Paroxysmal Dystonic Attacks due to a Novel ATP1A3 Variant.

Carlos Zúñiga-Ramírez, Mirelle Kramis-Hollands, Rodrigo Mercado-Pimentel, Héctor Alberto González-Usigli, Michel Sáenz-Farret, Alberto Soto-Escageda, Alfonso Fasano,

Background:Paroxysmal movement disorders are a heterogeneous group of neurological diseases, better understood in recent years thanks to widely available genetic testing. Case report:A pair of monozygotic twins with dystonia and paroxysmal attacks, resembling paroxysmal non-kinesigenic dyskinesias, due to a novel ATP1A3 variant are reported. The complete resolution of their paroxysms ... Read more >>

Tremor Other Hyperkinet Mov (N Y) (Tremor and other hyperkinetic movements (New York, N.Y.))
[2019, 9:]

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Genetic Disorders Associated with Metal Metabolism.

Muhammad Umair, Majid Alfadhel,

Genetic disorders associated with metal metabolism form a large group of disorders and mostly result from defects in the proteins/enzymes involved in nutrient metabolism and energy production. These defects can affect different metabolic pathways and cause mild to severe disorders related to metal metabolism. Some disorders have moderate to severe ... Read more >>

Cells (Cells)
[2019, 8(12):]

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PINK1 and Parkin mitochondrial quality control: a source of regional vulnerability in Parkinson's disease.

Preston Ge, Valina L Dawson, Ted M Dawson,

That certain cell types in the central nervous system are more likely to undergo neurodegeneration in Parkinson's disease is a widely appreciated but poorly understood phenomenon. Many vulnerable subpopulations, including dopamine neurons in the substantia nigra pars compacta, have a shared phenotype of large, widely distributed axonal networks, dense synaptic ... Read more >>

Mol Neurodegener (Molecular neurodegeneration)
[2020, 15(1):20]

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Treatment of first-episode psychosis in patients with autism-spectrum disorder and intellectual deficiency

Nicolas Garel, Ridha Joober,

J Psychiatry Neurosci (Journal of psychiatry & neuroscience : JPN)
[2019, 44(6):E31-E32]

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Novel SLC20A2 variant in a Japanese patient with idiopathic basal ganglia calcification-1 (IBGC1) associated with dopa-responsive parkinsonism.

Yaeko Ichikawa, Masaki Tanaka, Eriko Kurita, Masanori Nakajima, Masaki Tanaka, Chizuko Oishi, Jun Goto, Shoji Tsuji, Atsuro Chiba,

Idiopathic basal ganglia calcification-1 (IBGC1) is an autosomal dominant disorder characterized by calcification in the basal ganglia, which can manifest a range of neuropsychiatric symptoms, including parkinsonism. We herein describe a 64-year-old Japanese IBGC1 patient with bilateral basal ganglia calcification carrying a novel SLC20A2 variant (p.Val322Glufs*92). The patient also presented ... Read more >>

Hum Genome Var (Human genome variation)
[2019, 6:44]

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Cytosolic non-vesicular dopamine accumulation as the predominant mechanism for developing non-DOPA responsive parkinsonism in late-stage Huntington disease.

Rafael Vincent M Manalo,

Disturbances in motor movement can have similar clinical presentations, albeit having different pathways and temporal onset. Hypokinetic movements present with rigidity, resting tremors, postural instability and bradykinesia, as seen in parkinsonism, while hyperkinetic movements typically present with chorea, ballismus, tic, athetosis and dystonia. Nonetheless, movement disorders are thought to be ... Read more >>

Med. Hypotheses (Medical hypotheses)
[2019, 132:109377]

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Consensus Paper: Experimental Neurostimulation of the Cerebellum.

Lauren N Miterko, Kenneth B Baker, Jaclyn Beckinghausen, Lynley V Bradnam, Michelle Y Cheng, Jessica Cooperrider, Mahlon R DeLong, Simona V Gornati, Mark Hallett, Detlef H Heck, Freek E Hoebeek, Abbas Z Kouzani, Sheng-Han Kuo, Elan D Louis, Andre Machado, Mario Manto, Alana B McCambridge, Michael A Nitsche, Nordeyn Oulad Ben Taib, Traian Popa, Masaki Tanaka, Dagmar Timmann, Gary K Steinberg, Eric H Wang, Thomas Wichmann, Tao Xie, Roy V Sillitoe,

The cerebellum is best known for its role in controlling motor behaviors. However, recent work supports the view that it also influences non-motor behaviors. The contribution of the cerebellum towards different brain functions is underscored by its involvement in a diverse and increasing number of neurological and neuropsychiatric conditions including ... Read more >>

Cerebellum (Cerebellum (London, England))
[2019, 18(6):1064-1097]

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A biophysical model of striatal microcircuits suggests gamma and beta oscillations interleaved at delta/theta frequencies mediate periodicity in motor control.

Julia A K Chartove, Michelle M McCarthy, Benjamin R Pittman-Polletta, Nancy J Kopell,

Striatal oscillatory activity is associated with movement, reward, and decision-making, and observed in several interacting frequency bands. Local field potential recordings in rodent striatum show dopamine- and reward-dependent transitions between two states: a "spontaneous" state involving β (∼15-30 Hz) and low γ (∼40-60 Hz), and a state involving θ (∼4-8 ... Read more >>

PLoS Comput. Biol. (PLoS computational biology)
[2020, 16(2):e1007300]

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Transcriptomic signatures of brain regional vulnerability to Parkinson's disease.

Arlin Keo, Ahmed Mahfouz, Angela M T Ingrassia, Jean-Pascal Meneboo, Celine Villenet, Eugénie Mutez, Thomas Comptdaer, Boudewijn P F Lelieveldt, Martin Figeac, Marie-Christine Chartier-Harlin, Wilma D J van de Berg, Jacobus J van Hilten, Marcel J T Reinders,

The molecular mechanisms underlying caudal-to-rostral progression of Lewy body pathology in Parkinson's disease remain poorly understood. Here, we identified transcriptomic signatures across brain regions involved in Braak Lewy body stages in non-neurological adults from the Allen Human Brain Atlas. Among the genes that are indicative of regional vulnerability, we found ... Read more >>

Commun Biol (Communications biology)
[2020, 3(1):101]

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Juvenile Parkinson Disease.

Arsalan Anwar, Sidra Saleem, Aisha Akhtar, Sara Ashraf, Mirza Fawad Ahmed,

Juvenile Parkinson's disease (JPD) is a rare movement disorder that presents before the age of 21 years. Kufor-Rekab syndrome (KRS) is one of the distinct types of JPD caused by the ATP13A2 mutation and inherited as an autosomal recessive. The pathogenesis of KRS is related to an interrelated metabolism of ATP13A2 ... Read more >>

Cureus (Cureus)
[2019, 11(8):e5409]

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Subtle changes in striatal muscarinic M1 and M4 receptor expression in the DYT1 knock-in mouse model of dystonia.

Franziska Richter, Laura Klein, Christin Helmschrodt, Angelika Richter,

In early-onset generalized torsion dystonia, caused by a GAG deletion in TOR1A (DYT1), enhanced striatal cholinergic activity has been suggested to be critically involved. Previous studies have shown increased acetylcholine levels in the striatum of DYT1 knock-in (KI) mice. Ex vivo data indicated that muscarinic receptor antagonists normalize the activity ... Read more >>

PLoS ONE (PloS one)
[2019, 14(12):e0226080]

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Replacing what's lost: a new era of stem cell therapy for Parkinson's disease.

Yong Fan, Winanto, Shi-Yan Ng,

Background:Stem cells hold tremendous promise for regenerative medicine because they can be expanded infinitely, giving rise to large numbers of differentiated cells required for transplantation. Stem cells can be derived from fetal sources, embryonic origins (embryonic stem cells or ESCs) or reprogrammed from adult cell types (induced pluripotent stem cells ... Read more >>

Transl Neurodegener (Translational neurodegeneration)
[2020, 9:2]

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Slow Orthostatic Tremor: Review of the Current Evidence.

Anhar Hassan, John Caviness,

Background:Orthostatic tremor (OT) is defined as tremor in the legs and trunk evoked during standing. While the classical description is tremor of ≥13 Hz, slower frequencies are recognized. There is disagreement as to whether the latter represents a slow variant of classical OT, or different tremor disorder(s) given frequent coexistent ... Read more >>

Tremor Other Hyperkinet Mov (N Y) (Tremor and other hyperkinetic movements (New York, N.Y.))
[2019, 9:]

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Iron Redox Chemistry and Implications in the Parkinson's Disease Brain.

Dinendra L Abeyawardhane, Heather R Lucas,

The etiology of Parkinson's disease (PD) is linked with cellular inclusions in the substantia nigra pars compacta region of the brain that are enriched in the misfolded presynaptic protein α-synuclein (αS) and death of the dopaminergic neurons. Brain iron homeostasis governs both neurotransmission and neurodegeneration; hence, the role of iron ... Read more >>

Oxid Med Cell Longev (Oxidative Medicine and Cellular Longevity)
[2019, 2019:4609702]

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Parkinsonism with a Hint of Huntington's from 29 CAG Repeats in HTT.

Sipilä Jot,

Huntington's disease is caused by at least 36 cytosine-adenine-guanine (CAG) repeats in an HTT gene allele, but repeat tracts in the intermediate range (27-35 repeats) also display a subtle phenotype. This patient had a slightly elongated CAG repeat tract (29 repeats), a prominent family history of Parkinson's disease (PD), and ... Read more >>

Brain Sci (Brain sciences)
[2019, 9(10):]

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