Genetic analysis of LRRK2 P755L variant in Caucasian patients with Parkinson's disease
Identifieur interne : 000F02 ( Main/Merge ); précédent : 000F01; suivant : 000F03Genetic analysis of LRRK2 P755L variant in Caucasian patients with Parkinson's disease
Auteurs : HAO DENG [États-Unis] ; WEIDONG LE [États-Unis] ; MAOSHENG HUANG [États-Unis] ; WENJIE XIE [États-Unis] ; Tianghong Pana [États-Unis] ; Joseph Jankovic [États-Unis]Source :
- Neuroscience letters [ 0304-3940 ] ; 2007.
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- Pascal (Inist)
- Wicri :
- topic : Homme.
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Abstract
Parkinson's disease (PD) is the second most common neurodegenerative disease with major clinical features of bradykinesia, rigidity, resting tremor, and postural instability. Mutations in the leucine-rich repeat kinase 2 gene (LRRK2) have been identified both in familial and sporadic cases of PD. Recently, a P755L variant in the LRRK2 gene has been found to be responsible for 2% of Chinese patients with sporadic PD. To evaluate the frequency of the LRRK2 P755L variant in North American Caucasian patients with PD, we screened 426 PD patients and 37 additional patients with the combination of PD and essential tremor (ET) from our Parkinson Disease Center and Movement Clinic at Baylor College of Medicine. No P755L variant was found in our PD cohort. Therefore, we conclude that LRKK2 P755L variant is a rare cause of Caucasian PD and has no diagnostic utility in genetic testing of this population of patients.
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Medicine</s1><s2>Houston, TX 77030</s2><s3>USA</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ></inist:fA14><country>États-Unis</country><placeName><region type="state">Texas</region></placeName></affiliation></author><author><name sortKey="Weidong Le" sort="Weidong Le" uniqKey="Weidong Le" last="Weidong">WEIDONG LE</name><affiliation wicri:level="2"><inist:fA14 i1="01"><s1>Department of Neurology, Baylor College of Medicine</s1><s2>Houston, TX 77030</s2><s3>USA</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ></inist:fA14><country>États-Unis</country><placeName><region type="state">Texas</region></placeName></affiliation></author><author><name sortKey="Maosheng Huang" sort="Maosheng Huang" uniqKey="Maosheng Huang" last="Maosheng">MAOSHENG HUANG</name><affiliation wicri:level="2"><inist:fA14 i1="02"><s1>Department of Epidemiology, The University of Texas MD Anderson Cancer Center</s1><s2>Houston, TX</s2><s3>USA</s3><sZ>3 aut.</sZ></inist:fA14><country>États-Unis</country><placeName><region type="state">Texas</region></placeName></affiliation></author><author><name sortKey="Wenjie Xie" sort="Wenjie Xie" uniqKey="Wenjie Xie" last="Wenjie">WENJIE XIE</name><affiliation wicri:level="2"><inist:fA14 i1="01"><s1>Department of Neurology, Baylor College of Medicine</s1><s2>Houston, TX 77030</s2><s3>USA</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ></inist:fA14><country>États-Unis</country><placeName><region type="state">Texas</region></placeName></affiliation></author><author><name sortKey="Pana, Tianghong" sort="Pana, Tianghong" uniqKey="Pana T" first="Tianghong" last="Pana">Tianghong Pana</name><affiliation wicri:level="2"><inist:fA14 i1="01"><s1>Department of Neurology, Baylor College of Medicine</s1><s2>Houston, TX 77030</s2><s3>USA</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ></inist:fA14><country>États-Unis</country><placeName><region type="state">Texas</region></placeName></affiliation></author><author><name sortKey="Jankovic, Joseph" sort="Jankovic, Joseph" uniqKey="Jankovic J" first="Joseph" last="Jankovic">Joseph Jankovic</name><affiliation wicri:level="2"><inist:fA14 i1="01"><s1>Department of Neurology, Baylor College of Medicine</s1><s2>Houston, TX 77030</s2><s3>USA</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ></inist:fA14><country>États-Unis</country><placeName><region type="state">Texas</region></placeName><placeName><settlement type="city">Houston</settlement><region type="state">Texas</region></placeName><orgName type="university" n="3">Baylor College of Medicine</orgName></affiliation></author></analytic><series><title level="j" type="main">Neuroscience letters</title><title level="j" type="abbreviated">Neurosci. lett.</title><idno type="ISSN">0304-3940</idno><imprint><date when="2007">2007</date></imprint></series></biblStruct></sourceDesc><seriesStmt><title level="j" type="main">Neuroscience letters</title><title level="j" type="abbreviated">Neurosci. lett.</title><idno type="ISSN">0304-3940</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Human</term><term>Kinase</term><term>Leucine</term><term>Parkinson disease</term></keywords><keywords scheme="Pascal" xml:lang="fr"><term>Leucine</term><term>Kinase</term><term>Maladie de Parkinson</term><term>Homme</term></keywords><keywords scheme="Wicri" type="topic" xml:lang="fr"><term>Homme</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Parkinson's disease (PD) is the second most common neurodegenerative disease with major clinical features of bradykinesia, rigidity, resting tremor, and postural instability. Mutations in the leucine-rich repeat kinase 2 gene (LRRK2) have been identified both in familial and sporadic cases of PD. Recently, a P755L variant in the LRRK2 gene has been found to be responsible for 2% of Chinese patients with sporadic PD. To evaluate the frequency of the LRRK2 P755L variant in North American Caucasian patients with PD, we screened 426 PD patients and 37 additional patients with the combination of PD and essential tremor (ET) from our Parkinson Disease Center and Movement Clinic at Baylor College of Medicine. No P755L variant was found in our PD cohort. Therefore, we conclude that LRKK2 P755L variant is a rare cause of Caucasian PD and has no diagnostic utility in genetic testing of this population of patients.</div></front></TEI><affiliations><list><country><li>États-Unis</li></country><region><li>Texas</li></region><settlement><li>Houston</li></settlement><orgName><li>Baylor College of Medicine</li></orgName></list><tree><country name="États-Unis"><region name="Texas"><name sortKey="Hao Deng" sort="Hao Deng" uniqKey="Hao Deng" last="Hao">HAO DENG</name></region><name sortKey="Jankovic, Joseph" sort="Jankovic, Joseph" uniqKey="Jankovic J" first="Joseph" last="Jankovic">Joseph Jankovic</name><name sortKey="Maosheng Huang" sort="Maosheng Huang" uniqKey="Maosheng Huang" last="Maosheng">MAOSHENG HUANG</name><name sortKey="Pana, Tianghong" sort="Pana, Tianghong" uniqKey="Pana T" first="Tianghong" last="Pana">Tianghong Pana</name><name sortKey="Weidong Le" sort="Weidong Le" uniqKey="Weidong Le" last="Weidong">WEIDONG LE</name><name sortKey="Wenjie Xie" sort="Wenjie Xie" uniqKey="Wenjie Xie" last="Wenjie">WENJIE XIE</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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