Document Detail

Update on dystonia.
MedLine Citation:
PMID:  22610459     Owner:  NLM     Status:  MEDLINE    
PURPOSE OF REVIEW: This review considers the recent literature pertaining to the clinical features, genetics, neuropathology and treatment of dystonia syndromes.
RECENT FINDINGS: The term dystonia indicates at the same time a clinical phenotype and a collection of neurological syndromes mainly of genetic origin. The physical signs contributing to the phenomenology of dystonia have been recently assembled into a coherent set. The molecular genetics of primary dystonia syndromes (DYT1 and DYT6) have been the object of extensive analysis, providing converging views on their causative mechanisms. The relationship between genotype, phenotype, and endophenotypes has been explored for hereditary and sporadic dystonia syndromes. Neurophysiological studies on DYT1 and DYT6 patients, as well as on nonmanifesting carriers, have demonstrated the presence of altered synaptic plasticity. Several recent data indicate a role of dopamine and acetylcholine (ACh) transmission in the pathophysiology of primary dystonia.
SUMMARY: Recent findings have led to novel, testable hypotheses on cellular mechanisms and physiopathological abnormalities underlying dystonia. Neurophysiological studies, imaging data and animal models support the view that corticostriatal, cerebellar, and dopaminergic dysfunctions converge to produce the pathophysiological abnormalities of dystonia.
Alberto Albanese; Stefania Lalli
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Publication Detail:
Type:  Journal Article; Review    
Journal Detail:
Title:  Current opinion in neurology     Volume:  25     ISSN:  1473-6551     ISO Abbreviation:  Curr. Opin. Neurol.     Publication Date:  2012 Aug 
Date Detail:
Created Date:  2012-07-06     Completed Date:  2012-11-26     Revised Date:  2013-01-18    
Medline Journal Info:
Nlm Unique ID:  9319162     Medline TA:  Curr Opin Neurol     Country:  England    
Other Details:
Languages:  eng     Pagination:  483-90     Citation Subset:  IM    
Neurologia I, Fondazione IRCCS Istituto Neurologico Carlo Besta, Università Cattolica del Sacro Cuore, Milano, Italy.
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MeSH Terms
Dystonia* / genetics,  physiopathology,  therapy
Molecular Biology

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