Comparative study of Parkinson's disease and leucine-rich repeat kinase 2 p.G2019S parkinsonism.
Identifieur interne : 000B23 ( Main/Exploration ); précédent : 000B22; suivant : 000B24Comparative study of Parkinson's disease and leucine-rich repeat kinase 2 p.G2019S parkinsonism.
Auteurs : Joanne Trinh [Canada] ; Rim Amouri [Tunisie] ; John E. Duda [États-Unis] ; James F. Morley [États-Unis] ; Matthew Read [Royaume-Uni] ; Alan Donald [Canada] ; Carles Vilari O-Güell [Canada] ; Christina Thompson [Canada] ; Chelsea Szu Tu [Canada] ; Emil K. Gustavsson [Canada] ; Samia Ben Sassi [Tunisie] ; Emna Hentati [Tunisie] ; Mourad Zouari [Tunisie] ; Emna Farhat [Tunisie] ; Fatma Nabli [Tunisie] ; Faycel Hentati [Tunisie] ; Matthew J. Farrer [Canada]Source :
- Neurobiology of aging [ 1558-1497 ] ; 2014.
English descriptors
- KwdEn :
- Age Factors, Age of Onset, Aged, Case-Control Studies, Cognition, Disease Progression, Female, Humans, Incidence, Leucine-Rich Repeat Serine-Threonine Protein Kinase-2, Male, Middle Aged, Molecular Targeted Therapy, Motor Activity, Mutation, Parkinson Disease (diagnosis), Parkinson Disease (epidemiology), Parkinson Disease (genetics), Parkinson Disease (physiopathology), Protein-Serine-Threonine Kinases (genetics), Regression Analysis, Risk, Sex Factors.
- MESH :
- chemical , genetics : Protein-Serine-Threonine Kinases.
- chemical : Leucine-Rich Repeat Serine-Threonine Protein Kinase-2.
- diagnosis : Parkinson Disease.
- epidemiology : Parkinson Disease.
- genetics : Parkinson Disease.
- physiopathology : Parkinson Disease.
- Age Factors, Age of Onset, Aged, Case-Control Studies, Cognition, Disease Progression, Female, Humans, Incidence, Male, Middle Aged, Molecular Targeted Therapy, Motor Activity, Mutation, Regression Analysis, Risk, Sex Factors.
Abstract
Parkinson disease is a progressive neurodegenerative disease for which leucine-rich repeat kinase 2 (LRRK2 carriers) p.G2019S confers substantial genotypic and population attributable risk. With informed consent, we have recruited clinical data from 778 patients from Tunisia (of which 266 have LRRK2 parkinsonism) and 580 unaffected subjects. Motor, autonomic, and cognitive assessments in idiopathic Parkinson disease and LRRK2 patients were compared with regression models. The age-associated cumulative incidence of LRRK2 parkinsonism was also estimated using case-control and family-based designs. LRRK2 parkinsonism patients had slightly less gastrointestinal dysfunction and rapid eye movement sleep disorder. Overall, disease penetrance in LRRK2 carriers was 80% by 70 years but women become affected a median 5 years younger than men. Idiopathic Parkinson disease patients with younger age at diagnosis have slower disease progression. However, age at diagnoses does not predict progression in LRRK2 parkinsonism. LRRK2 p.G2019S mutation is a useful aid to diagnosis and modifiers of disease in LRRK2 parkinsonism may aid in developing therapeutic targets.
DOI: 10.1016/j.neurobiolaging.2013.11.015
PubMed: 24355527
Affiliations:
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Electronic address: jtrinh@can.ubc.ca.</nlm:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>Department of Medical Genetics, University of British Columbia, Vancouver, BC</wicri:regionArea><wicri:noRegion>BC</wicri:noRegion></affiliation></author><author><name sortKey="Amouri, Rim" sort="Amouri, Rim" uniqKey="Amouri R" first="Rim" last="Amouri">Rim Amouri</name><affiliation wicri:level="3"><nlm:affiliation>Mongi Ben Hamida National Institute of neurology, Tunis, Tunisia.</nlm:affiliation><country xml:lang="fr">Tunisie</country><wicri:regionArea>Mongi Ben Hamida National Institute of neurology, Tunis</wicri:regionArea><placeName><settlement type="city">Tunis</settlement><region nuts="2">Gouvernorat de Tunis</region></placeName></affiliation></author><author><name sortKey="Duda, John E" sort="Duda, John E" uniqKey="Duda J" first="John E" last="Duda">John E. 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Electronic address: jtrinh@can.ubc.ca.</nlm:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>Department of Medical Genetics, University of British Columbia, Vancouver, BC</wicri:regionArea><wicri:noRegion>BC</wicri:noRegion></affiliation></author><author><name sortKey="Amouri, Rim" sort="Amouri, Rim" uniqKey="Amouri R" first="Rim" last="Amouri">Rim Amouri</name><affiliation wicri:level="3"><nlm:affiliation>Mongi Ben Hamida National Institute of neurology, Tunis, Tunisia.</nlm:affiliation><country xml:lang="fr">Tunisie</country><wicri:regionArea>Mongi Ben Hamida National Institute of neurology, Tunis</wicri:regionArea><placeName><settlement type="city">Tunis</settlement><region nuts="2">Gouvernorat de Tunis</region></placeName></affiliation></author><author><name sortKey="Duda, John E" sort="Duda, John E" uniqKey="Duda J" first="John E" last="Duda">John E. Duda</name><affiliation wicri:level="2"><nlm:affiliation>Department of Neurology, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA</wicri:regionArea><placeName><region type="state">Pennsylvanie</region></placeName></affiliation></author><author><name sortKey="Morley, James F" sort="Morley, James F" uniqKey="Morley J" first="James F" last="Morley">James F. Morley</name><affiliation wicri:level="2"><nlm:affiliation>Department of Neurology, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA</wicri:regionArea><placeName><region type="state">Pennsylvanie</region></placeName></affiliation></author><author><name sortKey="Read, Matthew" sort="Read, Matthew" uniqKey="Read M" first="Matthew" last="Read">Matthew Read</name><affiliation wicri:level="1"><nlm:affiliation>PRN, Basingstoke, Hants, UK.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>PRN, Basingstoke, Hants</wicri:regionArea><wicri:noRegion>Hants</wicri:noRegion></affiliation></author><author><name sortKey="Donald, Alan" sort="Donald, Alan" uniqKey="Donald A" first="Alan" last="Donald">Alan Donald</name><affiliation wicri:level="1"><nlm:affiliation>Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada.</nlm:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>Department of Medical Genetics, University of British Columbia, Vancouver, BC</wicri:regionArea><wicri:noRegion>BC</wicri:noRegion></affiliation></author><author><name sortKey="Vilari O Guell, Carles" sort="Vilari O Guell, Carles" uniqKey="Vilari O Guell C" first="Carles" last="Vilari O-Güell">Carles Vilari O-Güell</name><affiliation wicri:level="1"><nlm:affiliation>Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada.</nlm:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>Department of Medical Genetics, University of British Columbia, Vancouver, BC</wicri:regionArea><wicri:noRegion>BC</wicri:noRegion></affiliation></author><author><name sortKey="Thompson, Christina" sort="Thompson, Christina" uniqKey="Thompson C" first="Christina" last="Thompson">Christina Thompson</name><affiliation wicri:level="1"><nlm:affiliation>Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada.</nlm:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>Department of Medical Genetics, University of British Columbia, Vancouver, BC</wicri:regionArea><wicri:noRegion>BC</wicri:noRegion></affiliation></author><author><name sortKey="Szu Tu, Chelsea" sort="Szu Tu, Chelsea" uniqKey="Szu Tu C" first="Chelsea" last="Szu Tu">Chelsea Szu Tu</name><affiliation wicri:level="1"><nlm:affiliation>Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada.</nlm:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>Department of Medical Genetics, University of British Columbia, Vancouver, BC</wicri:regionArea><wicri:noRegion>BC</wicri:noRegion></affiliation></author><author><name sortKey="Gustavsson, Emil K" sort="Gustavsson, Emil K" uniqKey="Gustavsson E" first="Emil K" last="Gustavsson">Emil K. Gustavsson</name><affiliation wicri:level="1"><nlm:affiliation>Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada.</nlm:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>Department of Medical Genetics, University of British Columbia, Vancouver, BC</wicri:regionArea><wicri:noRegion>BC</wicri:noRegion></affiliation></author><author><name sortKey="Ben Sassi, Samia" sort="Ben Sassi, Samia" uniqKey="Ben Sassi S" first="Samia" last="Ben Sassi">Samia Ben Sassi</name><affiliation wicri:level="3"><nlm:affiliation>Mongi Ben Hamida National Institute of neurology, Tunis, Tunisia.</nlm:affiliation><country xml:lang="fr">Tunisie</country><wicri:regionArea>Mongi Ben Hamida National Institute of neurology, Tunis</wicri:regionArea><placeName><settlement type="city">Tunis</settlement><region nuts="2">Gouvernorat de Tunis</region></placeName></affiliation></author><author><name sortKey="Hentati, Emna" sort="Hentati, Emna" uniqKey="Hentati E" first="Emna" last="Hentati">Emna Hentati</name><affiliation wicri:level="3"><nlm:affiliation>Mongi Ben Hamida National Institute of neurology, Tunis, Tunisia.</nlm:affiliation><country xml:lang="fr">Tunisie</country><wicri:regionArea>Mongi Ben Hamida National Institute of neurology, Tunis</wicri:regionArea><placeName><settlement type="city">Tunis</settlement><region nuts="2">Gouvernorat de Tunis</region></placeName></affiliation></author><author><name sortKey="Zouari, Mourad" sort="Zouari, Mourad" uniqKey="Zouari M" first="Mourad" last="Zouari">Mourad Zouari</name><affiliation wicri:level="3"><nlm:affiliation>Mongi Ben Hamida National Institute of neurology, Tunis, Tunisia.</nlm:affiliation><country xml:lang="fr">Tunisie</country><wicri:regionArea>Mongi Ben Hamida National Institute of neurology, Tunis</wicri:regionArea><placeName><settlement type="city">Tunis</settlement><region nuts="2">Gouvernorat de Tunis</region></placeName></affiliation></author><author><name sortKey="Farhat, Emna" sort="Farhat, Emna" uniqKey="Farhat E" first="Emna" last="Farhat">Emna Farhat</name><affiliation wicri:level="3"><nlm:affiliation>Mongi Ben Hamida National Institute of neurology, Tunis, Tunisia.</nlm:affiliation><country xml:lang="fr">Tunisie</country><wicri:regionArea>Mongi Ben Hamida National Institute of neurology, Tunis</wicri:regionArea><placeName><settlement type="city">Tunis</settlement><region nuts="2">Gouvernorat de Tunis</region></placeName></affiliation></author><author><name sortKey="Nabli, Fatma" sort="Nabli, Fatma" uniqKey="Nabli F" first="Fatma" last="Nabli">Fatma Nabli</name><affiliation wicri:level="3"><nlm:affiliation>Mongi Ben Hamida National Institute of neurology, Tunis, Tunisia.</nlm:affiliation><country xml:lang="fr">Tunisie</country><wicri:regionArea>Mongi Ben Hamida National Institute of neurology, Tunis</wicri:regionArea><placeName><settlement type="city">Tunis</settlement><region nuts="2">Gouvernorat de Tunis</region></placeName></affiliation></author><author><name sortKey="Hentati, Faycel" sort="Hentati, Faycel" uniqKey="Hentati F" first="Faycel" last="Hentati">Faycel Hentati</name><affiliation wicri:level="3"><nlm:affiliation>Mongi Ben Hamida National Institute of neurology, Tunis, Tunisia.</nlm:affiliation><country xml:lang="fr">Tunisie</country><wicri:regionArea>Mongi Ben Hamida National Institute of neurology, Tunis</wicri:regionArea><placeName><settlement type="city">Tunis</settlement><region nuts="2">Gouvernorat de Tunis</region></placeName></affiliation></author><author><name sortKey="Farrer, Matthew J" sort="Farrer, Matthew J" uniqKey="Farrer M" first="Matthew J" last="Farrer">Matthew J. Farrer</name><affiliation wicri:level="1"><nlm:affiliation>Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada.</nlm:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>Department of Medical Genetics, University of British Columbia, Vancouver, BC</wicri:regionArea><wicri:noRegion>BC</wicri:noRegion></affiliation></author></analytic><series><title level="j">Neurobiology of aging</title><idno type="eISSN">1558-1497</idno><imprint><date when="2014" type="published">2014</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Age Factors</term><term>Age of Onset</term><term>Aged</term><term>Case-Control Studies</term><term>Cognition</term><term>Disease Progression</term><term>Female</term><term>Humans</term><term>Incidence</term><term>Leucine-Rich Repeat Serine-Threonine Protein Kinase-2</term><term>Male</term><term>Middle Aged</term><term>Molecular Targeted Therapy</term><term>Motor Activity</term><term>Mutation</term><term>Parkinson Disease (diagnosis)</term><term>Parkinson Disease (epidemiology)</term><term>Parkinson Disease (genetics)</term><term>Parkinson Disease (physiopathology)</term><term>Protein-Serine-Threonine Kinases (genetics)</term><term>Regression Analysis</term><term>Risk</term><term>Sex Factors</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Protein-Serine-Threonine Kinases</term></keywords><keywords scheme="MESH" type="chemical" xml:lang="en"><term>Leucine-Rich Repeat Serine-Threonine Protein Kinase-2</term></keywords><keywords scheme="MESH" qualifier="diagnosis" xml:lang="en"><term>Parkinson Disease</term></keywords><keywords scheme="MESH" qualifier="epidemiology" xml:lang="en"><term>Parkinson Disease</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Parkinson Disease</term></keywords><keywords scheme="MESH" qualifier="physiopathology" xml:lang="en"><term>Parkinson Disease</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Age Factors</term><term>Age of Onset</term><term>Aged</term><term>Case-Control Studies</term><term>Cognition</term><term>Disease Progression</term><term>Female</term><term>Humans</term><term>Incidence</term><term>Male</term><term>Middle Aged</term><term>Molecular Targeted Therapy</term><term>Motor Activity</term><term>Mutation</term><term>Regression Analysis</term><term>Risk</term><term>Sex Factors</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Parkinson disease is a progressive neurodegenerative disease for which leucine-rich repeat kinase 2 (LRRK2 carriers) p.G2019S confers substantial genotypic and population attributable risk. With informed consent, we have recruited clinical data from 778 patients from Tunisia (of which 266 have LRRK2 parkinsonism) and 580 unaffected subjects. Motor, autonomic, and cognitive assessments in idiopathic Parkinson disease and LRRK2 patients were compared with regression models. The age-associated cumulative incidence of LRRK2 parkinsonism was also estimated using case-control and family-based designs. LRRK2 parkinsonism patients had slightly less gastrointestinal dysfunction and rapid eye movement sleep disorder. Overall, disease penetrance in LRRK2 carriers was 80% by 70 years but women become affected a median 5 years younger than men. Idiopathic Parkinson disease patients with younger age at diagnosis have slower disease progression. However, age at diagnoses does not predict progression in LRRK2 parkinsonism. LRRK2 p.G2019S mutation is a useful aid to diagnosis and modifiers of disease in LRRK2 parkinsonism may aid in developing therapeutic targets.</div></front></TEI><affiliations><list><country><li>Canada</li><li>Royaume-Uni</li><li>Tunisie</li><li>États-Unis</li></country><region><li>Gouvernorat de Tunis</li><li>Pennsylvanie</li></region><settlement><li>Tunis</li></settlement></list><tree><country name="Canada"><noRegion><name sortKey="Trinh, Joanne" sort="Trinh, Joanne" uniqKey="Trinh J" first="Joanne" last="Trinh">Joanne Trinh</name></noRegion><name sortKey="Donald, Alan" sort="Donald, Alan" uniqKey="Donald A" first="Alan" last="Donald">Alan Donald</name><name sortKey="Farrer, Matthew J" sort="Farrer, Matthew J" uniqKey="Farrer M" first="Matthew J" last="Farrer">Matthew J. Farrer</name><name sortKey="Gustavsson, Emil K" sort="Gustavsson, Emil K" uniqKey="Gustavsson E" first="Emil K" last="Gustavsson">Emil K. Gustavsson</name><name sortKey="Szu Tu, Chelsea" sort="Szu Tu, Chelsea" uniqKey="Szu Tu C" first="Chelsea" last="Szu Tu">Chelsea Szu Tu</name><name sortKey="Thompson, Christina" sort="Thompson, Christina" uniqKey="Thompson C" first="Christina" last="Thompson">Christina Thompson</name><name sortKey="Vilari O Guell, Carles" sort="Vilari O Guell, Carles" uniqKey="Vilari O Guell C" first="Carles" last="Vilari O-Güell">Carles Vilari O-Güell</name></country><country name="Tunisie"><region name="Gouvernorat de Tunis"><name sortKey="Amouri, Rim" sort="Amouri, Rim" uniqKey="Amouri R" first="Rim" last="Amouri">Rim Amouri</name></region><name sortKey="Ben Sassi, Samia" sort="Ben Sassi, Samia" uniqKey="Ben Sassi S" first="Samia" last="Ben Sassi">Samia Ben Sassi</name><name sortKey="Farhat, Emna" sort="Farhat, Emna" uniqKey="Farhat E" first="Emna" last="Farhat">Emna Farhat</name><name sortKey="Hentati, Emna" sort="Hentati, Emna" uniqKey="Hentati E" first="Emna" last="Hentati">Emna Hentati</name><name sortKey="Hentati, Faycel" sort="Hentati, Faycel" uniqKey="Hentati F" first="Faycel" last="Hentati">Faycel Hentati</name><name sortKey="Nabli, Fatma" sort="Nabli, Fatma" uniqKey="Nabli F" first="Fatma" last="Nabli">Fatma Nabli</name><name sortKey="Zouari, Mourad" sort="Zouari, Mourad" uniqKey="Zouari M" first="Mourad" last="Zouari">Mourad Zouari</name></country><country name="États-Unis"><region name="Pennsylvanie"><name sortKey="Duda, John E" sort="Duda, John E" uniqKey="Duda J" first="John E" last="Duda">John E. Duda</name></region><name sortKey="Morley, James F" sort="Morley, James F" uniqKey="Morley J" first="James F" last="Morley">James F. Morley</name></country><country name="Royaume-Uni"><noRegion><name sortKey="Read, Matthew" sort="Read, Matthew" uniqKey="Read M" first="Matthew" last="Read">Matthew Read</name></noRegion></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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