Phenotype of the 202 adenine deletion in the parkin gene: 40 years of follow‐up
Identifieur interne : 001488 ( Istex/Corpus ); précédent : 001487; suivant : 001489Phenotype of the 202 adenine deletion in the parkin gene: 40 years of follow‐up
Auteurs : Sharon Hassin-Baer ; Nobutaka Hattori ; Oren S. Cohen ; Magdalena Massarwa ; Simon D. Israeli-Korn ; Rivka InzelbergSource :
- Movement Disorders [ 0885-3185 ] ; 2011-03.
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- KwdEn :
Abstract
Background:: We describe the four decades follow‐up of 14 parkin patients belonging to two large eight‐generation‐long in‐bred Muslim‐Arab kindreds. Results:: All patients had a single base‐pair of adenine deletion at nucleotide 202 of exon 2 (202A) of the parkin gene (all homozygous, one heterozygous). Parkinson's disease onset age was 17–68 years. Special features were intractable axial symptoms (low back pain, scoliosis, camptocormia, antecollis), postural tremor, and preserved cognition. Conclusions:: The 202A deletion of the parkin gene causes early‐onset Parkinson's disease with marked levodopa/STN‐DBS–resistant axial features. Postural tremor and preserved cognition, even after 40 years of disease, were also evident. © 2010 Movement Disorder Society
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DOI: 10.1002/mds.23456
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<front><div type="abstract" xml:lang="en">Background:: We describe the four decades follow‐up of 14 parkin patients belonging to two large eight‐generation‐long in‐bred Muslim‐Arab kindreds. Results:: All patients had a single base‐pair of adenine deletion at nucleotide 202 of exon 2 (202A) of the parkin gene (all homozygous, one heterozygous). Parkinson's disease onset age was 17–68 years. Special features were intractable axial symptoms (low back pain, scoliosis, camptocormia, antecollis), postural tremor, and preserved cognition. Conclusions:: The 202A deletion of the parkin gene causes early‐onset Parkinson's disease with marked levodopa/STN‐DBS–resistant axial features. Postural tremor and preserved cognition, even after 40 years of disease, were also evident. © 2010 Movement Disorder Society</div>
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<affiliation xml:id="af2" countryCode="IL" type="organization"><unparsedAffiliation>Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel</unparsedAffiliation>
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<affiliation xml:id="af3" countryCode="JP" type="organization"><unparsedAffiliation>Department of Neurology, Juntendo University Medical School, Tokyo, Japan</unparsedAffiliation>
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<keywordGroup xml:lang="en" type="author"><keyword xml:id="kwd1">Parkinson's disease</keyword>
<keyword xml:id="kwd2">genetics</keyword>
<keyword xml:id="kwd3">Parkin</keyword>
<keyword xml:id="kwd4">PARK2</keyword>
<keyword xml:id="kwd5">follow‐up</keyword>
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<caption>Author Roles and Disclosures</caption>
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<abstractGroup><abstract type="main" xml:lang="en"><title type="main">Abstract</title>
<section xml:id="abs1-1"><title type="main">Background:</title>
<p>We describe the four decades follow‐up of 14 <i>parkin</i>
patients belonging to two large eight‐generation‐long in‐bred Muslim‐Arab kindreds.</p>
</section>
<section xml:id="abs1-2"><title type="main">Results:</title>
<p>All patients had a single base‐pair of adenine deletion at nucleotide 202 of exon 2 (202A) of the <i>parkin</i>
gene (all homozygous, one heterozygous). Parkinson's disease onset age was 17–68 years. Special features were intractable axial symptoms (low back pain, scoliosis, camptocormia, antecollis), postural tremor, and preserved cognition.</p>
</section>
<section xml:id="abs1-3"><title type="main">Conclusions:</title>
<p>The 202A deletion of the <i>parkin</i>
gene causes early‐onset Parkinson's disease with marked levodopa/STN‐DBS–resistant axial features. Postural tremor and preserved cognition, even after 40 years of disease, were also evident. © 2010 Movement Disorder Society</p>
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<noteGroup><note xml:id="fn1"><p><b>Relevant conflicts of interest/financial disclosure:</b>
Nothing to report. Full financial disclosures and author roles can be found in the online version of this article.</p>
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<!--Version 0.6 générée le 4-12-2015--><mods version="3.6"><titleInfo lang="en"><title>Phenotype of the 202 adenine deletion in the parkin gene: 40 years of follow‐up</title>
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<titleInfo type="abbreviated" lang="en"><title>Phenotype of the 202A Deletion in the parkin Gene</title>
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<titleInfo type="alternative" contentType="CDATA" lang="en"><title>Phenotype of the 202 adenine deletion in the</title>
</titleInfo>
<name type="personal"><namePart type="given">Sharon</namePart>
<namePart type="family">Hassin‐Baer</namePart>
<namePart type="termsOfAddress">MD</namePart>
<affiliation>The Sagol Neuroscience Center, Department of Neurology, Sheba Medical Center, Tel Hashomer, Israel</affiliation>
<affiliation>Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel</affiliation>
<role><roleTerm type="text">author</roleTerm>
</role>
</name>
<name type="personal"><namePart type="given">Nobutaka</namePart>
<namePart type="family">Hattori</namePart>
<namePart type="termsOfAddress">MD, PhD</namePart>
<affiliation>Department of Neurology, Juntendo University Medical School, Tokyo, Japan</affiliation>
<role><roleTerm type="text">author</roleTerm>
</role>
</name>
<name type="personal"><namePart type="given">Oren S.</namePart>
<namePart type="family">Cohen</namePart>
<namePart type="termsOfAddress">MD</namePart>
<affiliation>The Sagol Neuroscience Center, Department of Neurology, Sheba Medical Center, Tel Hashomer, Israel</affiliation>
<affiliation>Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel</affiliation>
<role><roleTerm type="text">author</roleTerm>
</role>
</name>
<name type="personal"><namePart type="given">Magdalena</namePart>
<namePart type="family">Massarwa</namePart>
<namePart type="termsOfAddress">MD</namePart>
<affiliation>The Sagol Neuroscience Center, Department of Neurology, Sheba Medical Center, Tel Hashomer, Israel</affiliation>
<role><roleTerm type="text">author</roleTerm>
</role>
</name>
<name type="personal"><namePart type="given">Simon D.</namePart>
<namePart type="family">Israeli‐Korn</namePart>
<namePart type="termsOfAddress">MA, MRCP (UK)</namePart>
<affiliation>The Sagol Neuroscience Center, Department of Neurology, Sheba Medical Center, Tel Hashomer, Israel</affiliation>
<role><roleTerm type="text">author</roleTerm>
</role>
</name>
<name type="personal"><namePart type="given">Rivka</namePart>
<namePart type="family">Inzelberg</namePart>
<namePart type="termsOfAddress">MD</namePart>
<affiliation>The Sagol Neuroscience Center, Department of Neurology, Sheba Medical Center, Tel Hashomer, Israel</affiliation>
<affiliation>Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel</affiliation>
<description>Correspondence: The Sagol Neuroscience Center, Department of Neurology, Sheba Medical Center, Tel Hashomer, 52621, Israel</description>
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<dateIssued encoding="w3cdtf">2011-03</dateIssued>
<dateCaptured encoding="w3cdtf">2010-07-11</dateCaptured>
<dateValid encoding="w3cdtf">2010-09-03</dateValid>
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<abstract lang="en">Background:: We describe the four decades follow‐up of 14 parkin patients belonging to two large eight‐generation‐long in‐bred Muslim‐Arab kindreds. Results:: All patients had a single base‐pair of adenine deletion at nucleotide 202 of exon 2 (202A) of the parkin gene (all homozygous, one heterozygous). Parkinson's disease onset age was 17–68 years. Special features were intractable axial symptoms (low back pain, scoliosis, camptocormia, antecollis), postural tremor, and preserved cognition. Conclusions:: The 202A deletion of the parkin gene causes early‐onset Parkinson's disease with marked levodopa/STN‐DBS–resistant axial features. Postural tremor and preserved cognition, even after 40 years of disease, were also evident. © 2010 Movement Disorder Society</abstract>
<note type="additional physical form">Author Roles and Disclosures</note>
<note type="content">*Relevant conflicts of interest/financial disclosure: Nothing to report. Full financial disclosures and author roles can be found in the online version of this article.</note>
<subject lang="en"><genre>Keywords</genre>
<topic>Parkinson's disease</topic>
<topic>genetics</topic>
<topic>Parkin</topic>
<topic>PARK2</topic>
<topic>follow‐up</topic>
</subject>
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<titleInfo type="abbreviated"><title>Mov. Disord.</title>
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<topic>Brief Report</topic>
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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>2011</date>
<detail type="volume"><caption>vol.</caption>
<number>26</number>
</detail>
<detail type="issue"><caption>no.</caption>
<number>4</number>
</detail>
<extent unit="pages"><start>719</start>
<end>722</end>
<total>4</total>
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<accessCondition type="use and reproduction" contentType="copyright">Copyright © 2010 Movement Disorder Society</accessCondition>
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