Phenotype of the 202 adenine deletion in the parkin gene: 40 years of follow‐up
Identifieur interne : 001467 ( Main/Exploration ); précédent : 001466; suivant : 001468Phenotype of the 202 adenine deletion in the parkin gene: 40 years of follow‐up
Auteurs : Sharon Hassin-Baer [Israël] ; Nobutaka Hattori [Japon] ; Oren S. Cohen [Israël] ; Magdalena Massarwa [Israël] ; Simon D. Israeli-Korn [Israël] ; Rivka Inzelberg [Israël]Source :
- Movement Disorders [ 0885-3185 ] ; 2011-03.
English descriptors
- KwdEn :
- Adenine, Adult, Age of Onset, Aged, Disability Evaluation, Disease Progression, Family Health, Female, Genotype, Humans, Longitudinal Studies, Male, Middle Aged, PARK2, Parkin, Parkinson Disease (genetics), Parkinson Disease (physiopathology), Parkinson's disease, Phenotype, Sequence Deletion (genetics), Severity of Illness Index, Ubiquitin-Protein Ligases (genetics), follow‐up, genetics.
- MESH :
- chemical , genetics : Ubiquitin-Protein Ligases.
- chemical : Adenine.
- genetics : Parkinson Disease, Sequence Deletion.
- physiopathology : Parkinson Disease.
- Adult, Age of Onset, Aged, Disability Evaluation, Disease Progression, Family Health, Female, Genotype, Humans, Longitudinal Studies, Male, Middle Aged, Phenotype, Severity of Illness Index.
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
Url:
DOI: 10.1002/mds.23456
Affiliations:
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Cohen</name><affiliation wicri:level="1"><country xml:lang="fr">Israël</country><wicri:regionArea>The Sagol Neuroscience Center, Department of Neurology, Sheba Medical Center, Tel Hashomer</wicri:regionArea><wicri:noRegion>Tel Hashomer</wicri:noRegion></affiliation><affiliation wicri:level="1"><country xml:lang="fr">Israël</country><wicri:regionArea>Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv</wicri:regionArea><wicri:noRegion>Tel Aviv</wicri:noRegion></affiliation></author><author><name sortKey="Massarwa, Magdalena" sort="Massarwa, Magdalena" uniqKey="Massarwa M" first="Magdalena" last="Massarwa">Magdalena Massarwa</name><affiliation wicri:level="1"><country xml:lang="fr">Israël</country><wicri:regionArea>The Sagol Neuroscience Center, Department of Neurology, Sheba Medical Center, Tel Hashomer</wicri:regionArea><wicri:noRegion>Tel Hashomer</wicri:noRegion></affiliation></author><author><name sortKey="Israeli Orn, Simon D" sort="Israeli Orn, Simon D" uniqKey="Israeli Orn S" first="Simon D." last="Israeli-Korn">Simon D. Israeli-Korn</name><affiliation wicri:level="1"><country xml:lang="fr">Israël</country><wicri:regionArea>The Sagol Neuroscience Center, Department of Neurology, Sheba Medical Center, Tel Hashomer</wicri:regionArea><wicri:noRegion>Tel Hashomer</wicri:noRegion></affiliation></author><author><name sortKey="Inzelberg, Rivka" sort="Inzelberg, Rivka" uniqKey="Inzelberg R" first="Rivka" last="Inzelberg">Rivka Inzelberg</name><affiliation wicri:level="1"><country xml:lang="fr">Israël</country><wicri:regionArea>The Sagol Neuroscience Center, Department of Neurology, Sheba Medical Center, Tel Hashomer</wicri:regionArea><wicri:noRegion>Tel Hashomer</wicri:noRegion></affiliation><affiliation wicri:level="1"><country xml:lang="fr">Israël</country><wicri:regionArea>Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv</wicri:regionArea><wicri:noRegion>Tel Aviv</wicri:noRegion></affiliation></author></analytic><monogr></monogr><series><title level="j">Movement Disorders</title><title level="j" type="abbrev">Mov. Disord.</title><idno type="ISSN">0885-3185</idno><idno type="eISSN">1531-8257</idno><imprint><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>Hoboken</pubPlace><date type="published" when="2011-03">2011-03</date><biblScope unit="vol">26</biblScope><biblScope unit="issue">4</biblScope><biblScope unit="page" from="719">719</biblScope><biblScope unit="page" to="722">722</biblScope></imprint><idno type="ISSN">0885-3185</idno></series><idno type="istex">9BF83356880C158DC3E1DB333A1BAC90C48B7E79</idno><idno type="DOI">10.1002/mds.23456</idno><idno type="ArticleID">MDS23456</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0885-3185</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adenine</term><term>Adult</term><term>Age of Onset</term><term>Aged</term><term>Disability Evaluation</term><term>Disease Progression</term><term>Family Health</term><term>Female</term><term>Genotype</term><term>Humans</term><term>Longitudinal Studies</term><term>Male</term><term>Middle Aged</term><term>PARK2</term><term>Parkin</term><term>Parkinson Disease (genetics)</term><term>Parkinson Disease (physiopathology)</term><term>Parkinson's disease</term><term>Phenotype</term><term>Sequence Deletion (genetics)</term><term>Severity of Illness Index</term><term>Ubiquitin-Protein Ligases (genetics)</term><term>follow‐up</term><term>genetics</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Ubiquitin-Protein Ligases</term></keywords><keywords scheme="MESH" type="chemical" xml:lang="en"><term>Adenine</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Parkinson Disease</term><term>Sequence Deletion</term></keywords><keywords scheme="MESH" qualifier="physiopathology" xml:lang="en"><term>Parkinson Disease</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adult</term><term>Age of Onset</term><term>Aged</term><term>Disability Evaluation</term><term>Disease Progression</term><term>Family Health</term><term>Female</term><term>Genotype</term><term>Humans</term><term>Longitudinal Studies</term><term>Male</term><term>Middle Aged</term><term>Phenotype</term><term>Severity of Illness Index</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><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></front></TEI><affiliations><list><country><li>Israël</li><li>Japon</li></country><settlement><li>Tokyo</li></settlement></list><tree><country name="Israël"><noRegion><name sortKey="Hassin Aer, Sharon" sort="Hassin Aer, Sharon" uniqKey="Hassin Aer S" first="Sharon" last="Hassin-Baer">Sharon Hassin-Baer</name></noRegion><name sortKey="Cohen, Oren S" sort="Cohen, Oren S" uniqKey="Cohen O" first="Oren S." last="Cohen">Oren S. Cohen</name><name sortKey="Cohen, Oren S" sort="Cohen, Oren S" uniqKey="Cohen O" first="Oren S." last="Cohen">Oren S. Cohen</name><name sortKey="Hassin Aer, Sharon" sort="Hassin Aer, Sharon" uniqKey="Hassin Aer S" first="Sharon" last="Hassin-Baer">Sharon Hassin-Baer</name><name sortKey="Inzelberg, Rivka" sort="Inzelberg, Rivka" uniqKey="Inzelberg R" first="Rivka" last="Inzelberg">Rivka Inzelberg</name><name sortKey="Inzelberg, Rivka" sort="Inzelberg, Rivka" uniqKey="Inzelberg R" first="Rivka" last="Inzelberg">Rivka Inzelberg</name><name sortKey="Israeli Orn, Simon D" sort="Israeli Orn, Simon D" uniqKey="Israeli Orn S" first="Simon D." last="Israeli-Korn">Simon D. Israeli-Korn</name><name sortKey="Massarwa, Magdalena" sort="Massarwa, Magdalena" uniqKey="Massarwa M" first="Magdalena" last="Massarwa">Magdalena Massarwa</name></country><country name="Japon"><noRegion><name sortKey="Hattori, Nobutaka" sort="Hattori, Nobutaka" uniqKey="Hattori N" first="Nobutaka" last="Hattori">Nobutaka Hattori</name></noRegion></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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