Familial tremulous and myoclonic dystonia with white matter changes in brain magnetic resonance imaging
Identifieur interne : 003178 ( Istex/Corpus ); précédent : 003177; suivant : 003179Familial tremulous and myoclonic dystonia with white matter changes in brain magnetic resonance imaging
Auteurs : Bohlega ; B. Stigsby ; M. Z. Al-Kawi ; D. R. Mclean ; P. Ozand ; S. Omer ; P. CoatesSource :
- Movement Disorders [ 0885-3185 ] ; 1995-07.
English descriptors
- KwdEn :
Abstract
We report two families with a disorder, probably autosomal recessive, characterized by tremor of juvenile onset, dystonia, and myoclonus with preserved cognitive, cerebellar, and peripheral nervous system functions. During 4 years' follow‐up, mild spasticity appeared. Magnetic resonance imaging (MRI) revealed mild diffuse changes in the white matter. Central conduction times for visual, motor, and sensory systems were all prolonged. Extensive metabolic work‐up failed to reveal lysosomal, peroxisomal, mitochondrial, or other metabolic abnormalities.
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DOI: 10.1002/mds.870100420
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ISTEX:E4878F0AC5D7938FAC793F4902169184D1ED5AE3Le document en format XML
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During 4 years' follow‐up, mild spasticity appeared. Magnetic resonance imaging (MRI) revealed mild diffuse changes in the white matter. Central conduction times for visual, motor, and sensory systems were all prolonged. Extensive metabolic work‐up failed to reveal lysosomal, peroxisomal, mitochondrial, or other metabolic abnormalities.</p></abstract><textClass xml:lang="en"><keywords scheme="keyword"><list><head>Keywords</head><item><term>Familial</term></item><item><term>Leukodystrophy</term></item><item><term>Dystonia</term></item><item><term>Tremor</term></item><item><term>Myoclonus</term></item><item><term>Magnetic resonance imaging</term></item></list></keywords></textClass><textClass><keywords scheme="Journal Subject"><list><head>Article category</head><item><term>Brief Report</term></item></list></keywords></textClass></profileDesc><revisionDesc><change when="1994-11-04">Registration</change><change when="1995-07">Published</change></revisionDesc></teiHeader></istex:fulltextTEI><json:item><original>false</original><mimetype>text/plain</mimetype><extension>txt</extension><uri>https://api.istex.fr/document/E4878F0AC5D7938FAC793F4902169184D1ED5AE3/fulltext/txt</uri></json:item></fulltext><metadata><istex:metadataXml wicri:clean="Wiley, elements deleted: body"><istex:xmlDeclaration>version="1.0" encoding="UTF-8" standalone="yes"</istex:xmlDeclaration><istex:document><component version="2.0" type="serialArticle" xml:lang="en"><header><publicationMeta level="product"><publisherInfo><publisherName>Wiley Subscription Services, Inc., A Wiley Company</publisherName><publisherLoc>Hoboken</publisherLoc></publisherInfo><doi registered="yes">10.1002/(ISSN)1531-8257</doi><issn type="print">0885-3185</issn><issn type="electronic">1531-8257</issn><idGroup><id type="product" value="MDS"></id></idGroup><titleGroup><title type="main" xml:lang="en" sort="MOVEMENT DISORDERS">Movement Disorders</title><title type="subtitle">Official Journal of the Movement Disorder Society</title><title type="short">Mov. 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During 4 years' follow‐up, mild spasticity appeared. Magnetic resonance imaging (MRI) revealed mild diffuse changes in the white matter. Central conduction times for visual, motor, and sensory systems were all prolonged. Extensive metabolic work‐up failed to reveal lysosomal, peroxisomal, mitochondrial, or other metabolic abnormalities.</p></abstract></abstractGroup></contentMeta></header></component></istex:document></istex:metadataXml><!--Version 0.6 générée le 3-12-2015--><mods version="3.6"><titleInfo lang="en"><title>Familial tremulous and myoclonic dystonia with white matter changes in brain magnetic resonance imaging</title></titleInfo><titleInfo type="abbreviated" lang="en"><title>DYSTONIA</title></titleInfo><titleInfo type="alternative" contentType="CDATA" lang="en"><title>Familial tremulous and myoclonic dystonia with white matter changes in brain magnetic resonance imaging</title></titleInfo><name type="personal"><namePart type="termsOfAddress">Dr.</namePart><namePart type="family">Bohlega</namePart><affiliation>Department of Medicine, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia</affiliation><description>Correspondence: Department of Medicine, King Faisal Specialist Hospital & Research Centre, P.O. 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R.</namePart><namePart type="family">McLean</namePart><affiliation>Department of Medicine, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">P.</namePart><namePart type="family">Ozand</namePart><affiliation>Department Pediatrics, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">S.</namePart><namePart type="family">Omer</namePart><affiliation>Department of Medicine, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">P.</namePart><namePart type="family">Coates</namePart><affiliation>Department Radiology, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia</affiliation><role><roleTerm type="text">author</roleTerm></role></name><typeOfResource>text</typeOfResource><genre authority="originalCategForm">article</genre><originInfo><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><place><placeTerm type="text">Hoboken</placeTerm></place><dateIssued encoding="w3cdtf">1995-07</dateIssued><dateValid encoding="w3cdtf">1994-11-04</dateValid><copyrightDate encoding="w3cdtf">1995</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="figures">3</extent><extent unit="references">29</extent></physicalDescription><abstract lang="en">We report two families with a disorder, probably autosomal recessive, characterized by tremor of juvenile onset, dystonia, and myoclonus with preserved cognitive, cerebellar, and peripheral nervous system functions. During 4 years' follow‐up, mild spasticity appeared. Magnetic resonance imaging (MRI) revealed mild diffuse changes in the white matter. Central conduction times for visual, motor, and sensory systems were all prolonged. Extensive metabolic work‐up failed to reveal lysosomal, peroxisomal, mitochondrial, or other metabolic abnormalities.</abstract><subject lang="en"><genre>Keywords</genre><topic>Familial</topic><topic>Leukodystrophy</topic><topic>Dystonia</topic><topic>Tremor</topic><topic>Myoclonus</topic><topic>Magnetic resonance imaging</topic></subject><relatedItem type="host"><titleInfo><title>Movement Disorders</title><subTitle>Official Journal of the Movement Disorder Society</subTitle></titleInfo><titleInfo type="abbreviated"><title>Mov. Disord.</title></titleInfo><subject><genre>article category</genre><topic>Brief Report</topic></subject><identifier type="ISSN">0885-3185</identifier><identifier type="eISSN">1531-8257</identifier><identifier type="DOI">10.1002/(ISSN)1531-8257</identifier><identifier type="PublisherID">MDS</identifier><part><date>1995</date><detail type="volume"><caption>vol.</caption><number>10</number></detail><detail type="issue"><caption>no.</caption><number>4</number></detail><extent unit="pages"><start>513</start><end>517</end><total>5</total></extent></part></relatedItem><identifier type="istex">E4878F0AC5D7938FAC793F4902169184D1ED5AE3</identifier><identifier type="DOI">10.1002/mds.870100420</identifier><identifier type="ArticleID">MDS870100420</identifier><accessCondition type="use and reproduction" contentType="copyright">Copyright © 1995 Movement Disorder Society</accessCondition><recordInfo><recordOrigin>Wiley Subscription Services, Inc., A Wiley Company</recordOrigin><recordContentSource>WILEY</recordContentSource></recordInfo></mods></metadata><serie></serie></istex></record>Pour manipuler ce document sous Unix (Dilib)
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