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Primary Torsion Dystonia

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Dystonia: Sparse Synapses for D2 Receptors in Striatum of a DYT1 Knock-out Mouse Model.

Vincenza D'Angelo, Emanuela Paldino, Silvia Cardarelli, Roberto Sorge, Francesca Romana Fusco, Stefano Biagioni, Nicola Biagio Mercuri, Mauro Giorgi, Giuseppe Sancesario,

Dystonia pathophysiology has been partly linked to downregulation and dysfunction ofdopamine D2 receptors in striatum. We aimed to investigate the possible morpho-structuralcorrelates of D2 receptor downregulation in the striatum of a DYT1 Tor1a mouse model. Adultcontrol Tor1a+/+ and mutant Tor1a+/- mice were used. The brains were perfused and free-floatingsections of ... Read more >>

Int J Mol Sci (International journal of molecular sciences)
[2020, 21(3):]

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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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Postural Directionality and Head Tremor in Cervical Dystonia.

Qiyu Chen, Jeanne P Vu, Elizabeth Cisneros, Casey N Benadof, Zheng Zhang, Richard L Barbano, Christopher G Goetz, Joseph Jankovic, Hyder A Jinnah, Joel S Perlmutter, Mark I Appelbaum, Glenn T Stebbins, Cynthia L Comella, David A Peterson,

Background:Although abnormal head and neck postures are defining features of cervical dystonia (CD), head tremor (HT) is also common. However, little is known about the relationship between abnormal postures and HT in CD. Methods:We analyzed clinical data and video recordings from 185 patients enrolled by the Dystonia Coalition. We calculated ... Read more >>

Tremor Other Hyperkinet Mov (N Y) (Tremor and other hyperkinetic movements (New York, N.Y.))
[2020, 10:]

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Complicated paroxysmal kinesigenic dyskinesia associated with SACS mutations.

Qiang Lu, Liang Shang, Wo Tu Tian, Li Cao, Xue Zhang, Qing Liu,

Background:Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is caused by pathogenic variants in the SACS gene and is characterized by ataxia, peripheral neuropathy, pyramidal impairment and episodic conditions such as epilepsy. Paroxysmal kinesigenic dyskinesia (PKD) had not been previously described in ARSACS. Methods:We analyzed clinical manifestations and performed whole-exome sequencing ... Read more >>

Ann Transl Med (Annals of translational medicine)
[2020, 8(1):8]

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Sensorimotor Integration and GABA-ergic Activity in Embouchure Dystonia: An Assessment with Magnetoencephalography.

Bisena Bulica, Christos Sidiropoulos, Abhimanyu Mahajan, Andrew Zillgitt, Patricia Kaminski, Susan M Bowyer,

Background:Embouchure dystonia (ED) is a task-specific dystonia affecting musicians thought to be related to alteration in sensorimotor processing and loss of cortical inhibition. Case Report:Magnetoencephalography-coherence source imaging (MEG-CSI) was used to map connectivity between brain regions by imaging neuronal oscillations that are coherent across the brain in patient with ED ... Read more >>

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

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Dystonia in Ataxia Telangiectasia: A Case Report with Novel Mutations.

Majid Zaki-Dizaji, Mohammad Tajdini, Fatemeh Kiaee, Hossein Shojaaldini, Reza Shervin Badv, Hassan Abolhassani, Asghar Aghamohammadi,

Ataxia telangiectasia (A-T) is a common, genetically inherited cause of early childhood-onset ataxia that is classically characterized by progressive cerebellar malfunction, oculocutaneous telangiectasia, genome instability, and immunodeficiency. There is vast phenotype variation in patients with A-T and recently, dystonia, an extrapyramidal movement disorder. Here, we report the case of a ... Read more >>

Oman Med J (Oman medical journal)
[2020, 35(1):e93]

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Focal Task-Specific Lower Limb Dystonia Only When Walking Stairs: Is It a New Disease Entity?

Jong Sam Baik, Hyeo-Il Ma, Phil Hyu Lee, Takaomi Taira,

Introduction: Focal task-specific dystonia in the lower limb or foot often occurs only during walking, running, hiking, or cycling. Several medications and botulinum toxin injection are effective in patients with this disorder. The objective of this study was to understand the spectrum of focal task-specific dystonia in the lower limb ... Read more >>

Front Neurol (Frontiers in neurology)
[2019, 10:1081]

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Essential tremor: a nuanced approach to the clinical features.

Elan D Louis,

Click here to listen to the Podcast Essential tremor is the most common form of tremor in humans. Given neurologists' high exposure to this condition, and its seemingly straightforward phenotype, it might seem easy to diagnose. However, 30%-50 % of patients labelled as having 'essential tremor' have other diagnoses, mostly ... Read more >>

Pract Neurol (Practical neurology)
[2019, 19(5):389-398]

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The neurobiological basis for novel experimental therapeutics in dystonia.

Anthony M Downs, Kaitlyn M Roman, Simone A Campbell, Antonio Pisani, Ellen J Hess, Paola Bonsi,

Dystonia is a movement disorder characterized by involuntary muscle contractions, twisting movements, and abnormal postures that may affect one or multiple body regions. Dystonia is the third most common movement disorder after Parkinson's disease and essential tremor. Despite its relative frequency, small molecule therapeutics for dystonia are limited. Development of ... Read more >>

Neurobiol. Dis. (Neurobiology of disease)
[2019, 130:104526]

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Safety and Effectiveness of the Prolonged Treatment of Children with a Ketogenic Diet.

Jana Ruiz Herrero, Elvira Cañedo Villarroya, Juan José García Peñas, Beatriz García Alcolea, Begoña Gómez Fernández, Laura Andrea Puerta Macfarland, Consuelo Pedrón Giner,

BACKGROUND:The ketogenic diet (KD) is an effective treatment against drug-resistant epilepsy in children. The KD is a diet rich in fats that produces anticonvulsant and neuroprotective effects that reduces seizures and improves the cognitive state. Nevertheless, it can produce side effects that sometimes can be serious. Further, the effect on ... Read more >>

Nutrients (Nutrients)
[2020, 12(2):]

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Acute onset of orofacial dystonia from promethazine treatment: A case report.

Ruili Zhang, Jianbo Lai, Jinwen Huang,

RATIONALE:Promethazine is an antihistamine agent used commonly for nausea and allergy. Along with its anticholinergic and antidopaminergic functions, promethazine is also used for psychiatric symptoms, such as troubling sleep, anxiety, and agitation. Previous studies have reported that promethazine may occasionally elicit acute dystonia in some individuals, especially for young children ... Read more >>

Medicine (Baltimore) (Medicine)
[2019, 98(43):e17675]

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Frequency and phenotypic spectrum of KMT2B dystonia in childhood: A single-center cohort study.

Miryam Carecchio, Federica Invernizzi, Paulina Gonzàlez-Latapi, Celeste Panteghini, Giovanna Zorzi, Luigi Romito, Vincenzo Leuzzi, Serena Galosi, Chiara Reale, Federica Zibordi, Agnel P Joseph, Maya Topf, Carla Piano, Anna Rita Bentivoglio, Floriano Girotti, Paolo Morana, Benedetto Morana, Manju A Kurian, Barbara Garavaglia, Niccolò E Mencacci, Steven J Lubbe, Nardo Nardocci,

BACKGROUND:Childhood-onset dystonia is often genetically determined. Recently, KMT2B variants have been recognized as an important cause of childhood-onset dystonia. OBJECTIVE:To define the frequency of KMT2B mutations in a cohort of dystonic patients aged <18 years at onset, the associated clinical and radiological phenotype, and the natural history of disease. METHODS:Whole-exome ... Read more >>

Mov. Disord. (Movement disorders : official journal of the Movement Disorder Society)
[2019, 34(10):1516-1527]

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Glucose hypometabolism in the visual cortex proportional to disease severity in patients with essential blepharospasm.

Yukihisa Suzuki, Motohiro Kiyosawa, Masato Wakakura, Kenji Ishii,

Essential blepharospasm (EB) causes difficulty in eyelid opening because of involuntary movements of the orbicularis oculi muscle. Patients with EB have functional visual loss due to sustained eyelid closure. We examined cerebral glucose metabolism in 39 patients with EB (12 men and 27 women; mean age, 52.1 years) by using positron ... Read more >>

Neuroimage Clin (NeuroImage. Clinical)
[2019, 24:101995]

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New approaches to discovering drugs that treat dystonia.

Sarah Pirio Richardson, H A Jinnah,

Introduction: Dystonia consists of involuntary movements, abnormal posturing, and pain. In adults, dystonia presents in a particular region of the body and causes significant disability due to pain as well as impairment in activities of daily living and employment. The current gold standard treatment, botulinum toxin (BoNT), has limitations - ... Read more >>

Expert Opin Drug Discov (Expert opinion on drug discovery)
[2019, 14(9):893-900]

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Editorial for neurobiology of disease special issue on dystonia progress in the neurobiology of dystonia.

H A Jinnah, Antonio Pisani,

Neurobiol. Dis. (Neurobiology of disease)
[2019, 130:104480]

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Botulinum toxin and occupational therapy for Writer's cramp.

Jung E Park, Ejaz A Shamim, Pattamon Panyakaew, Pawan Mathew, Camilo Toro, Jonathan Sackett, Barbara Karp, Codrin Lungu, Katharine Alter, Tianxia Wu, Omar F Ahmad, Monica Villegas, Sungyoung Auh, Mark Hallett,

BACKGROUND:Writer's cramp (WC) is a form of focal hand dystonia, for which focal botulinum neurotoxin (BoNT) injections are the current best therapy. Past studies have shown that some types of rehabilitative therapy can be useful. We hypothesized that BoNT together with a specific type of occupational therapy would be better ... Read more >>

Toxicon (Toxicon : official journal of the International Society on Toxinology)
[2019, 169:12-17]

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Dystonia genes and their biological pathways.

H A Jinnah, Yan V Sun,

The dystonias are a group of disorders characterized by excessive contraction of muscles leading to abnormal involuntary movements. The clinical manifestations are very heterogeneous, with numerous distinct syndromes. The etiologies for dystonia are also heterogeneous with idiopathic, acquired, and inherited forms. Technological advances in genetics over the past two decades ... Read more >>

Neurobiol. Dis. (Neurobiology of disease)
[2019, 129:159-168]

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Meta-Regression Analysis of the Long-Term Effects of Pallidal and Subthalamic Deep Brain Stimulation for the Treatment of Isolated Dystonia.

Yi-Song Wu, Lin-Hui Ni, Ru-Meng Fan, Ming-Yang Yao,

OBJECTIVE:The globus pallidus internus (GPi) and subthalamic nucleus (STN) are therapeutic targets for deep brain stimulation (DBS) in the treatment of isolated dystonia. We conducted a meta-regression analysis on long-term studies of bilateral DBS in the GPi and STN to compare the relative effects of the 2 approaches. METHODS:We systematically ... Read more >>

World Neurosurg (World neurosurgery)
[2019, 129:e409-e416]

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What is the role of the cerebellum in the pathophysiology of dystonia?

W K W Fung, K J Peall,

J. Neurol. (Journal of neurology)
[2019, 266(6):1549-1551]

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Focal limb dystonia caused by a complication of the cerebellar developmental venous anomaly: a case report.

Su Jin Chung,

BACKGROUND:There are no established theories regarding the role of the cerebellum in dystonia. We report a case of focal limb dystonia secondary to a vasogenic edema of the dentate nucleus caused by a symptomatic developmental venous anomaly. CASE PRESENTATION:A 44-year-old woman presented with sudden onset dystonia in her left arm ... Read more >>

BMC Neurol (BMC neurology)
[2019, 19(1):218]

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Acute cerebellar knockdown of Sgce reproduces salient features of myoclonus-dystonia (DYT11) in mice.

Samantha Washburn, Rachel Fremont, Maria Camila Moreno-Escobar, Chantal Angueyra, Kamran Khodakhah,

Myoclonus dystonia (DYT11) is a movement disorder caused by loss-of-function mutations in SGCE and characterized by involuntary jerking and dystonia that frequently improve after drinking alcohol. Existing transgenic mouse models of DYT11 exhibit only mild motor symptoms, possibly due to rodent-specific developmental compensation mechanisms, which have limited the study of ... Read more >>

Elife (eLife)
[2019, 8:]

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Alpha-synuclein-induced mitochondrial dysfunction is mediated via a sirtuin 3-dependent pathway.

Jae-Hyeon Park, Jeremy D Burgess, Ayman H Faroqi, Natasha N DeMeo, Fabienne C Fiesel, Wolfdieter Springer, Marion Delenclos, Pamela J McLean,

BACKGROUND:Misfolding and aggregation of the presynaptic protein alpha-synuclein (αsyn) is a hallmark of Parkinson's disease (PD) and related synucleinopathies. Although predominantly localized in the cytosol, a body of evidence has shown that αsyn localizes to mitochondria and contributes to the disruption of key mitochondrial processes. Mitochondrial dysfunction is central to ... Read more >>

Mol Neurodegener (Molecular neurodegeneration)
[2020, 15(1):5]

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Network-level connectivity is a critical feature distinguishing dystonic tremor and essential tremor.

Jesse C DeSimone, Derek B Archer, David E Vaillancourt, Aparna Wagle Shukla,

Dystonia is a movement disorder characterized by involuntary muscle co-contractions that give rise to disabling movements and postures. A recent expert consensus labelled the incidence of tremor as a core feature of dystonia that can affect body regions both symptomatic and asymptomatic to dystonic features. We are only beginning to ... Read more >>

Brain (Brain : a journal of neurology)
[2019, 142(6):1644-1659]

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Gait Impairment in Myoclonus-Dystonia (DYT-SGCE).

Ghazal Haeri, Gholamali Shahidi, Alfonso Fasano, Mohammad Rohani,

Background:Myoclonus-dystonia usually presents variable combination of myoclonus and dystonia mainly affecting the neck and arms, but leg involvement, especially as the presenting sign, is not common. Case report:A 29-year-old lady with a heterozygous mutation in Epsilon-sarcoglycan (SGCE) gene is presented with rapid jerks of the right leg interfering with walking. ... Read more >>

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

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Primary generalized dystonia due to TOR1A ΔGAG mutation in an Indian family with intrafamilial clinical heterogeneity.

Subhajit Giri, Arindam Biswas, Shyamal Kumar Das, Kunal Ray, Jharna Ray,

Neurol India (Neurology India)
[2019, 67(3):872-875]

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