Complicated recessive dystonia parkinsonism syndromes
Identifieur interne : 001765 ( Istex/Corpus ); précédent : 001764; suivant : 001766Complicated recessive dystonia parkinsonism syndromes
Auteurs : Susanne A. Schneider ; Kailash P. Bhatia ; John HardySource :
- Movement Disorders [ 0885-3185 ] ; 2009-03-15.
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Abstract
In addition to pure PD and pure dystonic syndromes, there are a group of disorders with overlapping features. The differential diagnosis of these dystonia parkinsonism syndromes can be complex. In view of the growing list of recognized disorders and recent advances in genetics, we review the autosomal recessive forms of dystonia parkinsonism, summarizing clinical presentations, results of investigations, and response to treatment of gene‐proven cases. We concentrate on PANK2‐, PLA2G6‐, ATP13A2‐, FBX07, TAF1‐, and PRKRA‐associated neurodegeneration. Parkin, PINK1, and DJ‐1 are also briefly reviewed. © 2009 Movement Disorder Society
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DOI: 10.1002/mds.22314
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ISTEX:A91680883B79BEB68301E371ACFBFFE8A7632AFALe document en format XML
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Schneider</name><affiliation><mods:affiliation>Sobell Department of Motor Neuroscience and Movement Disorders, Institute of Neurology, University College London, Queen Square, London, United Kingdom</mods:affiliation></affiliation></author><author><name sortKey="Bhatia, Kailash P" sort="Bhatia, Kailash P" uniqKey="Bhatia K" first="Kailash P." last="Bhatia">Kailash P. 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We concentrate on <i>PANK2</i>‐, <i>PLA2G6</i>‐, <i>ATP13A2</i>‐, <i>FBX07</i>, <i>TAF1</i>‐, and <i>PRKRA</i>‐associated neurodegeneration. <i>Parkin</i>, <i>PINK1</i>, and <i>DJ‐1</i> are also briefly reviewed. © 2009 Movement Disorder Society</p></abstract></abstractGroup></contentMeta><noteGroup><note xml:id="fn1"><p>Potential conflict of interest: None reported.</p></note></noteGroup></header></component></istex:document></istex:metadataXml><!--Version 0.6 générée le 3-12-2015--><mods version="3.6"><titleInfo lang="en"><title>Complicated recessive dystonia parkinsonism syndromes</title></titleInfo><titleInfo type="abbreviated" lang="en"><title>Complicated Dystonia Parkinsonism</title></titleInfo><titleInfo type="alternative" contentType="CDATA" lang="en"><title>Complicated recessive dystonia parkinsonism syndromes</title></titleInfo><name type="personal"><namePart type="given">Susanne A.</namePart><namePart type="family">Schneider</namePart><namePart type="termsOfAddress">MD, PhD</namePart><affiliation>Sobell Department of Motor Neuroscience and Movement Disorders, Institute of Neurology, University College London, Queen Square, London, United Kingdom</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Kailash P.</namePart><namePart type="family">Bhatia</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Sobell Department of Motor Neuroscience and Movement Disorders, Institute of Neurology, University College London, Queen Square, London, United Kingdom</affiliation><description>Correspondence: Sobell Department for Motor Neuroscience and Movement Disorders, Institute of Neurology, University College London; Queen Square, London WC1N 3BG, UK</description><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">John</namePart><namePart type="family">Hardy</namePart><namePart type="termsOfAddress">PhD</namePart><affiliation>Department of Molecular Neuroscience, Institute of Neurology, UCL, Queen Square, London, United Kingdom</affiliation><role><roleTerm type="text">author</roleTerm></role></name><typeOfResource>text</typeOfResource><genre authority="originalCategForm">reviewArticle</genre><originInfo><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><place><placeTerm type="text">Hoboken</placeTerm></place><dateIssued encoding="w3cdtf">2009-03-15</dateIssued><dateCaptured encoding="w3cdtf">2008-07-09</dateCaptured><dateValid encoding="w3cdtf">2008-08-22</dateValid><copyrightDate encoding="w3cdtf">2009</copyrightDate></originInfo><language><languageTerm type="code" authority="rfc3066">en</languageTerm><languageTerm type="code" authority="iso639-2b">eng</languageTerm></language><physicalDescription><internetMediaType>text/html</internetMediaType><extent unit="tables">2</extent><extent unit="references">100</extent><extent unit="words">6846</extent></physicalDescription><abstract lang="en">In addition to pure PD and pure dystonic syndromes, there are a group of disorders with overlapping features. 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