MovDisordV3, Main, Curation, bibRecord, 002603

The G2019S LRRK2 mutation in Brazilian patients with Parkinson's disease: Phenotype in monozygotic twins

Identifieur interne : 002603 ( Main/Curation ); précédent : 002602; suivant : 002604

The G2019S LRRK2 mutation in Brazilian patients with Parkinson's disease: Phenotype in monozygotic twins

Auteurs : Renato P. Munhoz [Brésil] ; Yosuke Wakutani [Canada] ; Connie Marras [Canada] ; Helio A. Teive [Brésil] ; Salmo Raskin [Brésil] ; Lineu C. Werneck [Brésil] ; Danielle Moreno [Canada] ; Christine Sato [Canada] ; Anthony E. Lang [Canada] ; Ekaterina Rogaeva [Canada]

Source :

Movement Disorders [ 0885-3185 ] ; 2008-01-30.

RBID : ISTEX:7AC25D85A92A7A65ACE1C01EE3EB4E231B2B44FB

Descripteurs français

Pascal (Inist)
- Brésil, Homme, Jumeau monozygote, Maladie de Parkinson, Mutation, Pathologie du système nerveux, Phénotype.
Wicri :
- geographic : Brésil.
- topic : Homme.

English descriptors

KwdEn :
- Adult, Age of Onset, Aged, Aged, 80 and over, Brazil, Brazil (epidemiology), Diseases in Twins, Female, G2919S, Glycine (genetics), Human, Humans, LRRK, Male, Middle Aged, Monozygotic twin, Mutation, Nervous system diseases, Parkinson Disease (genetics), Parkinson disease, Parkinson's disease, Phenotype, Protein-Serine-Threonine Kinases (genetics), Serine (genetics), Twins, Monozygotic, mutation.
MESH :
- chemical , genetics : Glycine, Protein-Serine-Threonine Kinases, Serine.
- geographic , epidemiology : Brazil.
- genetics : Parkinson Disease.
- Adult, Age of Onset, Aged, Aged, 80 and over, Diseases in Twins, Female, Humans, Male, Middle Aged, Mutation, Phenotype, Twins, Monozygotic.

Abstract

Mutations in the Leucine‐Rich Repeat Kinase 2 gene (LRRK2) are mainly responsible for idiopathic Parkinson's disease (PD) with either a dominant pattern of transmission or a sporadic occurrence due to the reduced penetrance. A majority of LRRK2 kindreds demonstrate an extremely variable age‐at‐onset in affected members of the same family. The G2019S is the most common LRRK2 mutation, which accounts for 1–5% PD patients in North America, and up to 40% of patients from an isolated Arab population. We assessed the frequency of the G2019S mutation in 83 Brazilian PD patients originally preselected for having an early age‐at‐onset (<50 years) and/or a positive family history. The mutation was detected in three probands (3.5%). Our clinical findings in these kindreds include the first description of the phenotype in identical twins discordant for handedness (a general phenomenon found in ∼25% monozygotic twins). However, both twins developed right asymmetric PD. The clinical presentation of twins was strikingly similar including an identical PD onset at age 60. This observation may suggest that genetic factors predominantly determine age‐at‐onset. © 2007 Movement Disorder Society

Url:

https://api.istex.fr/document/7AC25D85A92A7A65ACE1C01EE3EB4E231B2B44FB/fulltext/pdf

DOI: 10.1002/mds.21832

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ISTEX:7AC25D85A92A7A65ACE1C01EE3EB4E231B2B44FB

Le document en format XML

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<front><div type="abstract" xml:lang="en">Mutations in the Leucine‐Rich Repeat Kinase 2 gene (LRRK2) are mainly responsible for idiopathic Parkinson's disease (PD) with either a dominant pattern of transmission or a sporadic occurrence due to the reduced penetrance. A majority of LRRK2 kindreds demonstrate an extremely variable age‐at‐onset in affected members of the same family. The G2019S is the most common LRRK2 mutation, which accounts for 1–5% PD patients in North America, and up to 40% of patients from an isolated Arab population. We assessed the frequency of the G2019S mutation in 83 Brazilian PD patients originally preselected for having an early age‐at‐onset (<50 years) and/or a positive family history. The mutation was detected in three probands (3.5%). Our clinical findings in these kindreds include the first description of the phenotype in identical twins discordant for handedness (a general phenomenon found in ∼25% monozygotic twins). However, both twins developed right asymmetric PD. The clinical presentation of twins was strikingly similar including an identical PD onset at age 60. This observation may suggest that genetic factors predominantly determine age‐at‐onset. © 2007 Movement Disorder Society</div>
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<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a">The G2019S LRRK2 Mutation in Brazilian Patients with Parkinson's Disease : Phenotype in Monozygotic Twins</title>
<author><name sortKey="Munhoz, Renato P" sort="Munhoz, Renato P" uniqKey="Munhoz R" first="Renato P." last="Munhoz">Renato P. Munhoz</name>
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<s2>Curitiba, PR</s2>
<s3>BRA</s3>
<sZ>1 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>6 aut.</sZ>
</inist:fA14>
<country>Brésil</country>
<placeName><region type="state">Paraná (État)</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Wakutani, Yosuke" sort="Wakutani, Yosuke" uniqKey="Wakutani Y" first="Yosuke" last="Wakutani">Yosuke Wakutani</name>
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<placeName><settlement type="city">Toronto</settlement>
<region type="state">Ontario</region>
</placeName>
<orgName type="university">Université de Toronto</orgName>
</affiliation>
</author>
<author><name sortKey="Marras, Connie" sort="Marras, Connie" uniqKey="Marras C" first="Connie" last="Marras">Connie Marras</name>
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<country>Canada</country>
<placeName><settlement type="city">Toronto</settlement>
<region type="state">Ontario</region>
</placeName>
<orgName type="university">Université de Toronto</orgName>
</affiliation>
</author>
<author><name sortKey="Teive, Helio A" sort="Teive, Helio A" uniqKey="Teive H" first="Helio A." last="Teive">Helio A. Teive</name>
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<s3>BRA</s3>
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<placeName><region type="state">Paraná (État)</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Raskin, Salmo" sort="Raskin, Salmo" uniqKey="Raskin S" first="Salmo" last="Raskin">Salmo Raskin</name>
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<sZ>5 aut.</sZ>
</inist:fA14>
<country>Brésil</country>
<placeName><region type="state">Paraná (État)</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Werneck, Lineu C" sort="Werneck, Lineu C" uniqKey="Werneck L" first="Lineu C." last="Werneck">Lineu C. Werneck</name>
<affiliation wicri:level="2"><inist:fA14 i1="01"><s1>Movement Disorders Unit, Neurology Service, Hospital de Clínicas, Federal University of Paraná</s1>
<s2>Curitiba, PR</s2>
<s3>BRA</s3>
<sZ>1 aut.</sZ>
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<sZ>6 aut.</sZ>
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<country>Brésil</country>
<placeName><region type="state">Paraná (État)</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Moreno, Danielle" sort="Moreno, Danielle" uniqKey="Moreno D" first="Danielle" last="Moreno">Danielle Moreno</name>
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<s2>Toronto, Ontario</s2>
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<sZ>8 aut.</sZ>
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<placeName><settlement type="city">Toronto</settlement>
<region type="state">Ontario</region>
</placeName>
<orgName type="university">Université de Toronto</orgName>
</affiliation>
</author>
<author><name sortKey="Sato, Christine" sort="Sato, Christine" uniqKey="Sato C" first="Christine" last="Sato">Christine Sato</name>
<affiliation wicri:level="4"><inist:fA14 i1="02"><s1>Centre for Research in Neurodegenerative Diseases, University of Toronto</s1>
<s2>Toronto, Ontario</s2>
<s3>CAN</s3>
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<sZ>8 aut.</sZ>
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<country>Canada</country>
<placeName><settlement type="city">Toronto</settlement>
<region type="state">Ontario</region>
</placeName>
<orgName type="university">Université de Toronto</orgName>
</affiliation>
</author>
<author><name sortKey="Lang, Anthony E" sort="Lang, Anthony E" uniqKey="Lang A" first="Anthony E." last="Lang">Anthony E. Lang</name>
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<s2>Toronto, Ontario</s2>
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<sZ>9 aut.</sZ>
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<placeName><settlement type="city">Toronto</settlement>
<region type="state">Ontario</region>
</placeName>
<orgName type="university">Université de Toronto</orgName>
</affiliation>
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<s2>Toronto, Ontario</s2>
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<sZ>9 aut.</sZ>
<sZ>10 aut.</sZ>
</inist:fA14>
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<wicri:noRegion>Toronto, Ontario</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Rogaeva, Ekaterina" sort="Rogaeva, Ekaterina" uniqKey="Rogaeva E" first="Ekaterina" last="Rogaeva">Ekaterina Rogaeva</name>
<affiliation wicri:level="4"><inist:fA14 i1="02"><s1>Centre for Research in Neurodegenerative Diseases, University of Toronto</s1>
<s2>Toronto, Ontario</s2>
<s3>CAN</s3>
<sZ>2 aut.</sZ>
<sZ>7 aut.</sZ>
<sZ>8 aut.</sZ>
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</placeName>
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<s2>Toronto, Ontario</s2>
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<sZ>9 aut.</sZ>
<sZ>10 aut.</sZ>
</inist:fA14>
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<wicri:noRegion>Toronto, Ontario</wicri:noRegion>
</affiliation>
</author>
</analytic>
<series><title level="j" type="main">Movement disorders</title>
<title level="j" type="abbreviated">Mov. disord.</title>
<idno type="ISSN">0885-3185</idno>
<imprint><date when="2008">2008</date>
</imprint>
</series>
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<seriesStmt><title level="j" type="main">Movement disorders</title>
<title level="j" type="abbreviated">Mov. disord.</title>
<idno type="ISSN">0885-3185</idno>
</seriesStmt>
</fileDesc>
<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Brazil</term>
<term>Human</term>
<term>Monozygotic twin</term>
<term>Mutation</term>
<term>Nervous system diseases</term>
<term>Parkinson disease</term>
<term>Phenotype</term>
</keywords>
<keywords scheme="Pascal" xml:lang="fr"><term>Maladie de Parkinson</term>
<term>Pathologie du   système nerveux</term>
<term>Mutation</term>
<term>Homme</term>
<term>Phénotype</term>
<term>Jumeau monozygote</term>
<term>Brésil</term>
</keywords>
<keywords scheme="Wicri" type="geographic" xml:lang="fr"><term>Brésil</term>
</keywords>
<keywords scheme="Wicri" type="topic" xml:lang="fr"><term>Homme</term>
</keywords>
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<front><div type="abstract" xml:lang="en">Mutations in the Leucine-Rich Repeat Kinase 2 gene (LRRK2) are mainly responsible for idiopathic Parkinson's disease (PD) with either a dominant pattern of transmission or a sporadic occurrence due to the reduced penetrance. A majority of LRRK2 kindreds demonstrate an extremely variable age-at-onset in affected members of the same family. The G2019S is the most common LRRK2 mutation, which accounts for 1-5% PD patients in North America, and up to 40% of patients from an isolated Arab population. We assessed the frequency of the G2019S mutation in 83 Brazilian PD patients originally preselected for having an early age-at-onset (<50 years) and/or a positive family history. The mutation was detected in three probands (3.5%). Our clinical findings in these kindreds include the first description of the phenotype in identical twins discordant for handedness (a general phenomenon found in ∼25% monozygotic twins). However, both twins developed right asymmetric PD. The clinical presentation of twins was strikingly similar including an identical PD onset at age 60. This observation may suggest that genetic factors predominantly determine age-at-onset.</div>
</front>
</TEI>
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<ISTEX><TEI wicri:istexFullTextTei="biblStruct"><teiHeader><fileDesc><titleStmt><title xml:lang="en">The G2019S LRRK2 mutation in Brazilian patients with Parkinson's disease: Phenotype in monozygotic twins</title>
<author><name sortKey="Munhoz, Renato P" sort="Munhoz, Renato P" uniqKey="Munhoz R" first="Renato P." last="Munhoz">Renato P. Munhoz</name>
</author>
<author><name sortKey="Wakutani, Yosuke" sort="Wakutani, Yosuke" uniqKey="Wakutani Y" first="Yosuke" last="Wakutani">Yosuke Wakutani</name>
</author>
<author><name sortKey="Marras, Connie" sort="Marras, Connie" uniqKey="Marras C" first="Connie" last="Marras">Connie Marras</name>
</author>
<author><name sortKey="Teive, Helio A" sort="Teive, Helio A" uniqKey="Teive H" first="Helio A." last="Teive">Helio A. Teive</name>
</author>
<author><name sortKey="Raskin, Salmo" sort="Raskin, Salmo" uniqKey="Raskin S" first="Salmo" last="Raskin">Salmo Raskin</name>
</author>
<author><name sortKey="Werneck, Lineu C" sort="Werneck, Lineu C" uniqKey="Werneck L" first="Lineu C." last="Werneck">Lineu C. Werneck</name>
</author>
<author><name sortKey="Moreno, Danielle" sort="Moreno, Danielle" uniqKey="Moreno D" first="Danielle" last="Moreno">Danielle Moreno</name>
</author>
<author><name sortKey="Sato, Christine" sort="Sato, Christine" uniqKey="Sato C" first="Christine" last="Sato">Christine Sato</name>
</author>
<author><name sortKey="Lang, Anthony E" sort="Lang, Anthony E" uniqKey="Lang A" first="Anthony E." last="Lang">Anthony E. Lang</name>
</author>
<author><name sortKey="Rogaeva, Ekaterina" sort="Rogaeva, Ekaterina" uniqKey="Rogaeva E" first="Ekaterina" last="Rogaeva">Ekaterina Rogaeva</name>
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<sourceDesc><biblStruct><analytic><title level="a" type="main" xml:lang="en">The G2019S LRRK2 mutation in Brazilian patients with Parkinson's disease: Phenotype in monozygotic twins</title>
<author><name sortKey="Munhoz, Renato P" sort="Munhoz, Renato P" uniqKey="Munhoz R" first="Renato P." last="Munhoz">Renato P. Munhoz</name>
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<placeName><region type="state">Paraná (État)</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Wakutani, Yosuke" sort="Wakutani, Yosuke" uniqKey="Wakutani Y" first="Yosuke" last="Wakutani">Yosuke Wakutani</name>
<affiliation wicri:level="4"><country xml:lang="fr">Canada</country>
<wicri:regionArea>Centre for Research in Neurodegenerative Diseases, University of Toronto, Toronto, Ontario</wicri:regionArea>
<orgName type="university">Université de Toronto</orgName>
<placeName><settlement type="city">Toronto</settlement>
<region type="state">Ontario</region>
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<author><name sortKey="Marras, Connie" sort="Marras, Connie" uniqKey="Marras C" first="Connie" last="Marras">Connie Marras</name>
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<orgName type="university">Université de Toronto</orgName>
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<region type="state">Ontario</region>
</placeName>
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<author><name sortKey="Teive, Helio A" sort="Teive, Helio A" uniqKey="Teive H" first="Helio A." last="Teive">Helio A. Teive</name>
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<wicri:regionArea>Movement Disorders Unit, Neurology Service, Hospital de Clínicas, Federal University of Paraná, Curitiba, PR</wicri:regionArea>
<placeName><region type="state">Paraná (État)</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Raskin, Salmo" sort="Raskin, Salmo" uniqKey="Raskin S" first="Salmo" last="Raskin">Salmo Raskin</name>
<affiliation wicri:level="2"><country xml:lang="fr">Brésil</country>
<wicri:regionArea>Genetika Laboratory, Curitiba, PR</wicri:regionArea>
<placeName><region type="state">Paraná (État)</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Werneck, Lineu C" sort="Werneck, Lineu C" uniqKey="Werneck L" first="Lineu C." last="Werneck">Lineu C. Werneck</name>
<affiliation wicri:level="2"><country xml:lang="fr">Brésil</country>
<wicri:regionArea>Movement Disorders Unit, Neurology Service, Hospital de Clínicas, Federal University of Paraná, Curitiba, PR</wicri:regionArea>
<placeName><region type="state">Paraná (État)</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Moreno, Danielle" sort="Moreno, Danielle" uniqKey="Moreno D" first="Danielle" last="Moreno">Danielle Moreno</name>
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<wicri:regionArea>Centre for Research in Neurodegenerative Diseases, University of Toronto, Toronto, Ontario</wicri:regionArea>
<orgName type="university">Université de Toronto</orgName>
<placeName><settlement type="city">Toronto</settlement>
<region type="state">Ontario</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Sato, Christine" sort="Sato, Christine" uniqKey="Sato C" first="Christine" last="Sato">Christine Sato</name>
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<wicri:regionArea>Centre for Research in Neurodegenerative Diseases, University of Toronto, Toronto, Ontario</wicri:regionArea>
<orgName type="university">Université de Toronto</orgName>
<placeName><settlement type="city">Toronto</settlement>
<region type="state">Ontario</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Lang, Anthony E" sort="Lang, Anthony E" uniqKey="Lang A" first="Anthony E." last="Lang">Anthony E. Lang</name>
<affiliation wicri:level="4"><country xml:lang="fr">Canada</country>
<wicri:regionArea>Movement Disorders Centre, Toronto Western Hospital, University of Toronto, Toronto, Ontario</wicri:regionArea>
<orgName type="university">Université de Toronto</orgName>
<placeName><settlement type="city">Toronto</settlement>
<region type="state">Ontario</region>
</placeName>
</affiliation>
<affiliation wicri:level="1"><country xml:lang="fr">Canada</country>
<wicri:regionArea>Division of Neurology, Department of Medicine, University Health Network, Toronto, Ontario</wicri:regionArea>
<wicri:noRegion>Ontario</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Rogaeva, Ekaterina" sort="Rogaeva, Ekaterina" uniqKey="Rogaeva E" first="Ekaterina" last="Rogaeva">Ekaterina Rogaeva</name>
<affiliation wicri:level="4"><country xml:lang="fr">Canada</country>
<wicri:regionArea>Centre for Research in Neurodegenerative Diseases, University of Toronto, Toronto, Ontario</wicri:regionArea>
<orgName type="university">Université de Toronto</orgName>
<placeName><settlement type="city">Toronto</settlement>
<region type="state">Ontario</region>
</placeName>
</affiliation>
<affiliation wicri:level="1"><country xml:lang="fr">Canada</country>
<wicri:regionArea>Division of Neurology, Department of Medicine, University Health Network, Toronto, Ontario</wicri:regionArea>
<wicri:noRegion>Ontario</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="2008-01-30">2008-01-30</date>
<biblScope unit="vol">23</biblScope>
<biblScope unit="issue">2</biblScope>
<biblScope unit="page" from="290">290</biblScope>
<biblScope unit="page" to="294">294</biblScope>
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<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adult</term>
<term>Age of Onset</term>
<term>Aged</term>
<term>Aged, 80 and over</term>
<term>Brazil</term>
<term>Brazil (epidemiology)</term>
<term>Diseases in Twins</term>
<term>Female</term>
<term>G2919S</term>
<term>Glycine (genetics)</term>
<term>Humans</term>
<term>LRRK</term>
<term>Male</term>
<term>Middle Aged</term>
<term>Mutation</term>
<term>Parkinson Disease (genetics)</term>
<term>Parkinson's disease</term>
<term>Phenotype</term>
<term>Protein-Serine-Threonine Kinases (genetics)</term>
<term>Serine (genetics)</term>
<term>Twins, Monozygotic</term>
<term>mutation</term>
</keywords>
<keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Glycine</term>
<term>Protein-Serine-Threonine Kinases</term>
<term>Serine</term>
</keywords>
<keywords scheme="MESH" type="geographic" qualifier="epidemiology" xml:lang="en"><term>Brazil</term>
</keywords>
<keywords scheme="Wicri" type="geographic" xml:lang="fr"><term>Brésil</term>
</keywords>
<keywords scheme="MESH" qualifier="genetics" 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>Aged, 80 and over</term>
<term>Diseases in Twins</term>
<term>Female</term>
<term>Humans</term>
<term>Male</term>
<term>Middle Aged</term>
<term>Mutation</term>
<term>Phenotype</term>
<term>Twins, Monozygotic</term>
</keywords>
</textClass>
<langUsage><language ident="en">en</language>
</langUsage>
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<front><div type="abstract" xml:lang="en">Mutations in the Leucine‐Rich Repeat Kinase 2 gene (LRRK2) are mainly responsible for idiopathic Parkinson's disease (PD) with either a dominant pattern of transmission or a sporadic occurrence due to the reduced penetrance. A majority of LRRK2 kindreds demonstrate an extremely variable age‐at‐onset in affected members of the same family. The G2019S is the most common LRRK2 mutation, which accounts for 1–5% PD patients in North America, and up to 40% of patients from an isolated Arab population. We assessed the frequency of the G2019S mutation in 83 Brazilian PD patients originally preselected for having an early age‐at‐onset (<50 years) and/or a positive family history. The mutation was detected in three probands (3.5%). Our clinical findings in these kindreds include the first description of the phenotype in identical twins discordant for handedness (a general phenomenon found in ∼25% monozygotic twins). However, both twins developed right asymmetric PD. The clinical presentation of twins was strikingly similar including an identical PD onset at age 60. This observation may suggest that genetic factors predominantly determine age‐at‐onset. © 2007 Movement Disorder Society</div>
</front>
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</ISTEX>
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	Movement Disorders (revue)
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Movement Disorders (revue)

The G2019S LRRK2 mutation in Brazilian patients with Parkinson's disease: Phenotype in monozygotic twins

The G2019S LRRK2 mutation in Brazilian patients with Parkinson's disease: Phenotype in monozygotic twins

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