MovDisordV3, Main, Merge, bibRecord, 004B09

Mutations in LRRK2 other than G2019S are rare in a North American-based sample of familial Parkinson's disease

Identifieur interne : 004B09 ( Main/Merge ); précédent : 004B08; suivant : 004B10

Mutations in LRRK2 other than G2019S are rare in a North American-based sample of familial Parkinson's disease

Auteurs : Nathan Pankratz [États-Unis] ; Michael W. Pauciulo [États-Unis] ; Veronika E. Elsaesser [États-Unis] ; Diane K. Marek [États-Unis] ; Cheryl A. Halter [États-Unis] ; Alice Rudolph [États-Unis] ; Clifford W. Shults [États-Unis] ; Tatiana Foroud [États-Unis] ; William C. Nichols [États-Unis]

Source :

Movement disorders [ 0885-3185 ] ; 2006.

RBID : Pascal:07-0090895

Descripteurs français

Pascal (Inist)
- Système nerveux pathologie, Parkinson maladie, Mutation, Nord, Américain, Maladie familiale.

English descriptors

KwdEn :
- American, Familial disease, Mutation, Nervous system diseases, North, Parkinson disease.

Abstract

A total of 956 individuals with Parkinson's disease (PD) from 430 multiplex PD pedigrees were screened for 12 previously reported, pathogenic LRRK2 mutations: R793M, L1114L, I1371V, R1441C, R1441G, R1441H, Y1699C, M1869T, I2012T, I2020T, G2385R, and IVS31 +3G>A. Previous screening identified the LRRK2 G2019S mutation in 5% of our families. Only 1 of the 12 newly screened mutations, R1441C, was detected in a single family in our patient cohort. These results indicate that, although the G2019S mutation remains the most common mutation identified in familial PD patients, other mutations in LRRK2 are infrequent.

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Pascal:07-0090895

Le document en format XML

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<author><name sortKey="Elsaesser, Veronika E" sort="Elsaesser, Veronika E" uniqKey="Elsaesser V" first="Veronika E." last="Elsaesser">Veronika E. Elsaesser</name>
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<author><name sortKey="Rudolph, Alice" sort="Rudolph, Alice" uniqKey="Rudolph A" first="Alice" last="Rudolph">Alice Rudolph</name>
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<author><name sortKey="Foroud, Tatiana" sort="Foroud, Tatiana" uniqKey="Foroud T" first="Tatiana" last="Foroud">Tatiana Foroud</name>
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<author><name sortKey="Nichols, William C" sort="Nichols, William C" uniqKey="Nichols W" first="William C." last="Nichols">William C. Nichols</name>
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<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a">Mutations in LRRK2 other than G2019S are rare in a North American-based sample of familial Parkinson's disease</title>
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<author><name sortKey="Elsaesser, Veronika E" sort="Elsaesser, Veronika E" uniqKey="Elsaesser V" first="Veronika E." last="Elsaesser">Veronika E. Elsaesser</name>
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<author><name sortKey="Marek, Diane K" sort="Marek, Diane K" uniqKey="Marek D" first="Diane K." last="Marek">Diane K. Marek</name>
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<author><name sortKey="Halter, Cheryl A" sort="Halter, Cheryl A" uniqKey="Halter C" first="Cheryl A." last="Halter">Cheryl A. Halter</name>
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<author><name sortKey="Rudolph, Alice" sort="Rudolph, Alice" uniqKey="Rudolph A" first="Alice" last="Rudolph">Alice Rudolph</name>
<affiliation wicri:level="2"><inist:fA14 i1="03"><s1>University of Rochester</s1>
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<author><name sortKey="Shults, Clifford W" sort="Shults, Clifford W" uniqKey="Shults C" first="Clifford W." last="Shults">Clifford W. Shults</name>
<affiliation wicri:level="2"><inist:fA14 i1="04"><s1>University of California, La Jolla, and VA San Diego Healthcare System</s1>
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<author><name sortKey="Foroud, Tatiana" sort="Foroud, Tatiana" uniqKey="Foroud T" first="Tatiana" last="Foroud">Tatiana Foroud</name>
<affiliation wicri:level="2"><inist:fA14 i1="01"><s1>Indiana University Medical Center</s1>
<s2>Indianapolis, Indiana</s2>
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<author><name sortKey="Nichols, William C" sort="Nichols, William C" uniqKey="Nichols W" first="William C." last="Nichols">William C. Nichols</name>
<affiliation wicri:level="2"><inist:fA14 i1="02"><s1>Cincinnati Children's Hospital Medical Center</s1>
<s2>Cincinnati, Ohio</s2>
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<country>États-Unis</country>
<placeName><region type="state">Ohio</region>
</placeName>
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</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="2006">2006</date>
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<seriesStmt><title level="j" type="main">Movement disorders</title>
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<idno type="ISSN">0885-3185</idno>
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</fileDesc>
<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>American</term>
<term>Familial disease</term>
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<term>Nervous system diseases</term>
<term>North</term>
<term>Parkinson disease</term>
</keywords>
<keywords scheme="Pascal" xml:lang="fr"><term>Système nerveux pathologie</term>
<term>Parkinson maladie</term>
<term>Mutation</term>
<term>Nord</term>
<term>Américain</term>
<term>Maladie familiale</term>
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<front><div type="abstract" xml:lang="en">A total of 956 individuals with Parkinson's disease (PD) from 430 multiplex PD pedigrees were screened for 12 previously reported, pathogenic LRRK2 mutations: R793M, L1114L, I1371V, R1441C, R1441G, R1441H, Y1699C, M1869T, I2012T, I2020T, G2385R, and IVS31 +3G>A. Previous screening identified the LRRK2 G2019S mutation in 5% of our families. Only 1 of the 12 newly screened mutations, R1441C, was detected in a single family in our patient cohort. These results indicate that, although the G2019S mutation remains the most common mutation identified in familial PD patients, other mutations in LRRK2 are infrequent.</div>
</front>
</TEI>
<affiliations><list><country><li>États-Unis</li>
</country>
<region><li>Californie</li>
<li>Indiana</li>
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<tree><country name="États-Unis"><region name="Indiana"><name sortKey="Pankratz, Nathan" sort="Pankratz, Nathan" uniqKey="Pankratz N" first="Nathan" last="Pankratz">Nathan Pankratz</name>
</region>
<name sortKey="Elsaesser, Veronika E" sort="Elsaesser, Veronika E" uniqKey="Elsaesser V" first="Veronika E." last="Elsaesser">Veronika E. Elsaesser</name>
<name sortKey="Foroud, Tatiana" sort="Foroud, Tatiana" uniqKey="Foroud T" first="Tatiana" last="Foroud">Tatiana Foroud</name>
<name sortKey="Halter, Cheryl A" sort="Halter, Cheryl A" uniqKey="Halter C" first="Cheryl A." last="Halter">Cheryl A. Halter</name>
<name sortKey="Marek, Diane K" sort="Marek, Diane K" uniqKey="Marek D" first="Diane K." last="Marek">Diane K. Marek</name>
<name sortKey="Nichols, William C" sort="Nichols, William C" uniqKey="Nichols W" first="William C." last="Nichols">William C. Nichols</name>
<name sortKey="Nichols, William C" sort="Nichols, William C" uniqKey="Nichols W" first="William C." last="Nichols">William C. Nichols</name>
<name sortKey="Pauciulo, Michael W" sort="Pauciulo, Michael W" uniqKey="Pauciulo M" first="Michael W." last="Pauciulo">Michael W. Pauciulo</name>
<name sortKey="Rudolph, Alice" sort="Rudolph, Alice" uniqKey="Rudolph A" first="Alice" last="Rudolph">Alice Rudolph</name>
<name sortKey="Shults, Clifford W" sort="Shults, Clifford W" uniqKey="Shults C" first="Clifford W." last="Shults">Clifford W. Shults</name>
</country>
</tree>
</affiliations>
</record>

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	Movement Disorders (revue)
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Movement Disorders (revue)

Mutations in LRRK2 other than G2019S are rare in a North American-based sample of familial Parkinson's disease

Mutations in LRRK2 other than G2019S are rare in a North American-based sample of familial Parkinson's disease

Source :

Descripteurs français

English descriptors

Abstract

Links toward previous steps (curation, corpus...)

Links to Exploration step

Le document en format XML

Pour manipuler ce document sous Unix (Dilib)

Pour mettre un lien sur cette page dans le réseau Wicri