Dopa‐responsive dystonia presenting with prominent isolated bilateral resting leg tremor: Evidence for a role of parkin?
Identifieur interne : 001A69 ( Istex/Corpus ); précédent : 001A68; suivant : 001A70Dopa‐responsive dystonia presenting with prominent isolated bilateral resting leg tremor: Evidence for a role of parkin?
Auteurs : Ronald B. Postuma ; Yoshiaki Furukawa ; Ekaterina Rogaeva ; Peter H. St. George-Hyslop ; Matt J. Farrer ; Anthony E. LangSource :
- Movement Disorders [ 0885-3185 ] ; 2003-09.
English descriptors
Abstract
We report on a GTP cyclohydrolase 1 mutation‐confirmed case of dopa‐responsive dystonia who presented with an isolated parkinsonian rest tremor starting at the age of 15 years. There was no dystonia or other features of parkinsonism. Sequencing of the parkin gene demonstrated polymorphisms in a compound heterozygous state. The spectrum of unusual clinical presentations of dopa‐responsive dystonia is discussed. © 2003 Movement Disorder Society
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DOI: 10.1002/mds.10478
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<keywordGroup xml:lang="en" type="author"><keyword xml:id="kwd1">dopa‐responsive dystonia</keyword>
<keyword xml:id="kwd2">parkinsonism</keyword>
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<p>We report on a GTP cyclohydrolase 1 mutation‐confirmed case of dopa‐responsive dystonia who presented with an isolated parkinsonian rest tremor starting at the age of 15 years. There was no dystonia or other features of parkinsonism. Sequencing of the <i>parkin</i>
gene demonstrated polymorphisms in a compound heterozygous state. The spectrum of unusual clinical presentations of dopa‐responsive dystonia is discussed. © 2003 Movement Disorder Society</p>
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<name type="personal"><namePart type="given">Ronald B.</namePart>
<namePart type="family">Postuma</namePart>
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<affiliation>Morton and Gloria Shulman Movement Disorders Center, Toronto Western Hospital, Toronto, Ontario Canada</affiliation>
<affiliation>Laboratories of Neurogenetics, Department of Neuroscience, Mayo Clinic Jacksonville, Jacksonville, Florida, USA</affiliation>
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<affiliation>Centre for Research in Neurodegenerative Diseases, University of Toronto, Toronto, Ontario, Canada</affiliation>
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<description>Correspondence: Morton and Gloria Shulman Movement Disorders Center, Toronto Western Hospital, 399 Bathurst Street, MP11, Toronto, Ontario Canada M5T 2S8,</description>
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<abstract lang="en">We report on a GTP cyclohydrolase 1 mutation‐confirmed case of dopa‐responsive dystonia who presented with an isolated parkinsonian rest tremor starting at the age of 15 years. There was no dystonia or other features of parkinsonism. Sequencing of the parkin gene demonstrated polymorphisms in a compound heterozygous state. The spectrum of unusual clinical presentations of dopa‐responsive dystonia is discussed. © 2003 Movement Disorder Society</abstract>
<note type="content">*A videotape accompanies this article.</note>
<note type="funding">Parkinson Society of Canada</note>
<subject lang="en"><genre>Keywords</genre>
<topic>dopa‐responsive dystonia</topic>
<topic>parkinsonism</topic>
<topic>resting leg tremor</topic>
<topic>GTP cyclohydrolase 1</topic>
<topic>parkin</topic>
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<relatedItem type="host"><titleInfo><title>Movement Disorders</title>
<subTitle>Official Journal of the Movement Disorder Society</subTitle>
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<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>2003</date>
<detail type="volume"><caption>vol.</caption>
<number>18</number>
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<detail type="issue"><caption>no.</caption>
<number>9</number>
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<extent unit="pages"><start>1070</start>
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