Literature DB >> 11912106

The genetics of primary dystonias and related disorders.

Andrea H Németh1.   

Abstract

Dystonias are a heterogeneous group of disorders which are known to have a strong inherited basis. This review details recent advances in our understanding of the genetic basis of dystonias, including the primary dystonias, the 'dystonia-plus' syndromes and heredodegenerative disorders. The review focuses particularly on clinical and genetic features and molecular mechanisms. Conditions discussed in detail include idiopathic torsion dystonia (DYT1), focal dystonias (DYT7) and mixed dystonias (DYT6 and DYT13), dopa-responsive dystonia, myoclonus dystonia, rapid-onset dystonia parkinsonism, Fahr disease, Aicardi-Goutieres syndrome, Hallervorden-Spatz syndrome, X-linked dystonia parkinsonism, deafness-dystonia syndrome, mitochondrial dystonias, neuroacanthocytosis and the paroxysmal dystonias/dyskinesias.

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Year:  2002        PMID: 11912106     DOI: 10.1093/brain/awf090

Source DB:  PubMed          Journal:  Brain        ISSN: 0006-8950            Impact factor:   13.501


  33 in total

Review 1.  Genetics of movement disorders and ataxia.

Authors:  Paul R Jarman; Nicholas W Wood
Journal:  J Neurol Neurosurg Psychiatry       Date:  2002-12       Impact factor: 10.154

Review 2.  Modulation of dopaminergic neuronal differentiation from sympathoadrenal progenitors.

Authors:  Vladimir Vukicevic; Maria F Rubin de Celis; Gabriela Diaz-Valencia; Stefan R Bornstein; Monika Ehrhart-Bornstein
Journal:  J Mol Neurosci       Date:  2012-03-25       Impact factor: 3.444

Review 3.  Juvenile parkinsonism: epidemiology, diagnosis and treatment.

Authors:  Teri R Thomsen; Robert L Rodnitzky
Journal:  CNS Drugs       Date:  2010-06       Impact factor: 5.749

4.  Movement disorders induced by antipsychotic drugs: implications of the CATIE schizophrenia trial.

Authors:  Stanley N Caroff; Irene Hurford; Janice Lybrand; E Cabrina Campbell
Journal:  Neurol Clin       Date:  2011-02       Impact factor: 3.806

Review 5.  Ashkenazi Jewish genetic disorders.

Authors:  Joel Charrow
Journal:  Fam Cancer       Date:  2004       Impact factor: 2.375

6.  Expanded motor and psychiatric phenotype in autosomal dominant Segawa syndrome due to GTP cyclohydrolase deficiency.

Authors:  J L K Van Hove; J Steyaert; G Matthijs; E Legius; P Theys; R Wevers; A Romstad; L B Møller; K Hedrich; D Goriounov; N Blau; C Klein; P Casaer
Journal:  J Neurol Neurosurg Psychiatry       Date:  2006-01       Impact factor: 10.154

Review 7.  The functional neuroanatomy of dystonia.

Authors:  Vladimir K Neychev; Robert E Gross; Stephane Lehéricy; Ellen J Hess; H A Jinnah
Journal:  Neurobiol Dis       Date:  2011-02-12       Impact factor: 5.996

Review 8.  Diseases of the Nucleoskeleton.

Authors:  James M Holaska
Journal:  Compr Physiol       Date:  2016-09-15       Impact factor: 9.090

9.  A mutation of beta -actin that alters depolymerization dynamics is associated with autosomal dominant developmental malformations, deafness, and dystonia.

Authors:  Vincent Procaccio; Gloria Salazar; Shoichiro Ono; Melanie L Styers; Marla Gearing; Antonio Davila; Richard Jimenez; Jorge Juncos; Claire-Anne Gutekunst; Germana Meroni; Bianca Fontanella; Estelle Sontag; Jean Marie Sontag; Victor Faundez; Bruce H Wainer
Journal:  Am J Hum Genet       Date:  2006-04-21       Impact factor: 11.025

Review 10.  Understanding the anatomy of dystonia: determinants of penetrance and phenotype.

Authors:  Renata P Lerner; Martin Niethammer; David Eidelberg
Journal:  Curr Neurol Neurosci Rep       Date:  2013-11       Impact factor: 5.081

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