Literature DB >> 22136648

Convergent mechanisms in etiologically-diverse dystonias.

Valerie B Thompson1, H A Jinnah, Ellen J Hess.   

Abstract

INTRODUCTION: Dystonia is a neurological disorder associated with twisting motions and abnormal postures, which compromise normal movements and can be both painful and debilitating. It can affect a single body part (focal), several contiguous regions (segmental), or the entire body (generalized), and can arise as a result of numerous causes, both genetic and acquired. Despite the diversity of causes and manifestations, shared clinical features suggest that common mechanisms of pathogenesis may underlie many dystonias. AREAS COVERED: Shared themes in etiologically-diverse dystonias exist at several biological levels. At the cellular level, abnormalities in the dopaminergic system, mitochondrial function and calcium regulation are often present. At the anatomical level, the basal ganglia and the cerebellum are frequently implicated. Global CNS dysfunction, specifically aberrant neuronal plasticity, inhibition and sensorimotor integration, are also observed in a number of dystonias. Using clinical data and data from animal models, this article seeks to highlight shared pathways that may be critical in understanding mechanisms and identifying novel therapeutic strategies in dystonia. EXPERT OPINION: Identifying shared features of pathogenesis can provide insight into the biological processes that underlie etiologically diverse dystonias, and can suggest novel targets for therapeutic intervention that may be effective in a broad group of affected individuals.

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Year:  2011        PMID: 22136648      PMCID: PMC3514401          DOI: 10.1517/14728222.2011.641533

Source DB:  PubMed          Journal:  Expert Opin Ther Targets        ISSN: 1472-8222            Impact factor:   6.902


  205 in total

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3.  Clozapine treatment of spasmodic torticollis.

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4.  Dopamine deficiency in a genetic mouse model of Lesch-Nyhan disease.

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5.  The mutation at nt 8993 of mitochondrial DNA is a common cause of Leigh's syndrome.

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Journal:  Ann Neurol       Date:  1993-12       Impact factor: 10.422

6.  The behavioural and motor consequences of focal lesions of the basal ganglia in man.

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Journal:  Brain       Date:  1995-06       Impact factor: 13.501

8.  Dopamine D2 receptor imaging with iodine-123-iodobenzamide SPECT in idiopathic rotational torticollis.

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9.  Tonic vibration reflex and muscle afferent block in writer's cramp.

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Journal:  Ann Neurol       Date:  1995-08       Impact factor: 10.422

10.  Chronic mitochondrial energy impairment produces selective striatal degeneration and abnormal choreiform movements in primates.

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Journal:  Proc Natl Acad Sci U S A       Date:  1995-07-18       Impact factor: 11.205

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  12 in total

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Journal:  Mov Disord Clin Pract       Date:  2014-12-01

Review 2.  Diagnosis and treatment of dystonia.

Authors:  H A Jinnah; Stewart A Factor
Journal:  Neurol Clin       Date:  2015-02       Impact factor: 3.806

Review 3.  Alternative approaches to modeling hereditary dystonias.

Authors:  Rachel Fremont; Kamran Khodakhah
Journal:  Neurotherapeutics       Date:  2012-04       Impact factor: 7.620

Review 4.  The neurobiological basis for novel experimental therapeutics in dystonia.

Authors:  Anthony M Downs; Kaitlyn M Roman; Simone A Campbell; Antonio Pisani; Ellen J Hess; Paola Bonsi
Journal:  Neurobiol Dis       Date:  2019-07-04       Impact factor: 5.996

5.  A Novel Variant of ATP5MC3 Associated with Both Dystonia and Spastic Paraplegia.

Authors:  Derek E Neilson; Michael Zech; Robert B Hufnagel; Jesse Slone; Xinjian Wang; Shelli Homan; Lisa M Gutzwiller; Elizabeth J Leslie; Nancy D Leslie; Jianfeng Xiao; Peter Hedera; Mark S LeDoux; Brian Gebelein; Friederike Wilbert; Matthias Eckenweiler; Juliane Winkelmann; Donald L Gilbert; Taosheng Huang
Journal:  Mov Disord       Date:  2021-10-11       Impact factor: 10.338

6.  Thiamine and dystonia 16.

Authors:  Antonio Costantini; Erika Trevi; Maria Immacolata Pala; Roberto Fancellu
Journal:  BMJ Case Rep       Date:  2016-07-22

Review 7.  The focal dystonias: current views and challenges for future research.

Authors:  H A Jinnah; Alfredo Berardelli; Cynthia Comella; Giovanni Defazio; Mahlon R Delong; Stewart Factor; Wendy R Galpern; Mark Hallett; Christy L Ludlow; Joel S Perlmutter; Ami R Rosen
Journal:  Mov Disord       Date:  2013-06-15       Impact factor: 10.338

8.  Reduced Number of Pigmented Neurons in the Substantia Nigra of Dystonia Patients? Findings from Extensive Neuropathologic, Immunohistochemistry, and Quantitative Analyses.

Authors:  Diego Iacono; Maria Geraci-Erck; Hui Peng; Marcie L Rabin; Roger Kurlan
Journal:  Tremor Other Hyperkinet Mov (N Y)       Date:  2015-05-13

9.  Dystonia type 6 gene product Thap1: identification of a 50 kDa DNA-binding species in neuronal nuclear fractions.

Authors:  Maitane Ortiz-Virumbrales; Marta Ruiz; Eugene Hone; Georgia Dolios; Rong Wang; Andrika Morant; Jessica Kottwitz; Laurie J Ozelius; Sam Gandy; Michelle E Ehrlich
Journal:  Acta Neuropathol Commun       Date:  2014-09-18       Impact factor: 7.801

10.  ATP1A3 Mutation in Adult Rapid-Onset Ataxia.

Authors:  Kathleen J Sweadner; Camilo Toro; Christopher T Whitlow; Beverly M Snively; Jared F Cook; Laurie J Ozelius; Thomas C Markello; Allison Brashear
Journal:  PLoS One       Date:  2016-03-18       Impact factor: 3.240

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