MovDisordV3, Main, Exploration, bibRecord, 003335

Mutations in LRRK2 other than G2019S are rare in a north american–based sample of familial Parkinson's disease

Identifieur interne : 003335 ( Main/Exploration ); précédent : 003334; suivant : 003336

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 ] ; 2006-12.

RBID : ISTEX:AE8D742191B38BC5E52B579390B56A6C6108FA7C

Descripteurs français

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

English descriptors

KwdEn :
- Adolescent, Adult, Aged, Aged, 80 and over, American, Familial disease, Family Health, Female, Genetic Testing (methods), Glycine (genetics), Humans, LRRK2, Male, Middle Aged, Mutation, Mutation (genetics), Nervous system diseases, North, North America (epidemiology), Parkinson Disease (genetics), Parkinson disease, Parkinson's disease, Protein-Serine-Threonine Kinases (genetics), Serine (genetics), mutation.
MESH :
- chemical , genetics : Glycine, Protein-Serine-Threonine Kinases, Serine.
- geographic , epidemiology : North America.
- genetics : Mutation, Parkinson Disease.
- methods : Genetic Testing.
- Adolescent, Adult, Aged, Aged, 80 and over, Family Health, Female, Humans, Male, Middle Aged.

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. © 2006 Movement Disorder Society

Url:

https://api.istex.fr/document/AE8D742191B38BC5E52B579390B56A6C6108FA7C/fulltext/pdf

DOI: 10.1002/mds.21162

Affiliations:

Le document en format XML

<record><TEI wicri:istexFullTextTei="biblStruct"><teiHeader><fileDesc><titleStmt><title xml:lang="en">Mutations in LRRK2 other than G2019S are rare in a north american–based sample of familial Parkinson's disease</title>
<author><name sortKey="Pankratz, Nathan" sort="Pankratz, Nathan" uniqKey="Pankratz N" first="Nathan" last="Pankratz">Nathan Pankratz</name>
</author>
<author><name sortKey="Pauciulo, Michael W" sort="Pauciulo, Michael W" uniqKey="Pauciulo M" first="Michael W." last="Pauciulo">Michael W. Pauciulo</name>
</author>
<author><name sortKey="Elsaesser, Veronika E" sort="Elsaesser, Veronika E" uniqKey="Elsaesser V" first="Veronika E." last="Elsaesser">Veronika E. Elsaesser</name>
</author>
<author><name sortKey="Marek, Diane K" sort="Marek, Diane K" uniqKey="Marek D" first="Diane K." last="Marek">Diane K. Marek</name>
</author>
<author><name sortKey="Halter, Cheryl A" sort="Halter, Cheryl A" uniqKey="Halter C" first="Cheryl A." last="Halter">Cheryl A. Halter</name>
</author>
<author><name sortKey="Rudolph, Alice" sort="Rudolph, Alice" uniqKey="Rudolph A" first="Alice" last="Rudolph">Alice Rudolph</name>
</author>
<author><name sortKey="Shults, Clifford W" sort="Shults, Clifford W" uniqKey="Shults C" first="Clifford W." last="Shults">Clifford W. Shults</name>
</author>
<author><name sortKey="Foroud, Tatiana" sort="Foroud, Tatiana" uniqKey="Foroud T" first="Tatiana" last="Foroud">Tatiana Foroud</name>
</author>
<author><name sortKey="Nichols, William C" sort="Nichols, William C" uniqKey="Nichols W" first="William C." last="Nichols">William C. Nichols</name>
</author>
</titleStmt>
<publicationStmt><idno type="wicri:source">ISTEX</idno>
<idno type="RBID">ISTEX:AE8D742191B38BC5E52B579390B56A6C6108FA7C</idno>
<date when="2006" year="2006">2006</date>
<idno type="doi">10.1002/mds.21162</idno>
<idno type="url">https://api.istex.fr/document/AE8D742191B38BC5E52B579390B56A6C6108FA7C/fulltext/pdf</idno>
<idno type="wicri:Area/Istex/Corpus">002F84</idno>
<idno type="wicri:Area/Istex/Curation">002F84</idno>
<idno type="wicri:Area/Istex/Checkpoint">001D94</idno>
<idno type="wicri:doubleKey">0885-3185:2006:Pankratz N:mutations:in:lrrk</idno>
<idno type="wicri:source">PubMed</idno>
<idno type="RBID">pubmed:17078063</idno>
<idno type="wicri:Area/PubMed/Corpus">002A26</idno>
<idno type="wicri:Area/PubMed/Curation">002A26</idno>
<idno type="wicri:Area/PubMed/Checkpoint">002C27</idno>
<idno type="wicri:Area/Ncbi/Merge">001913</idno>
<idno type="wicri:Area/Ncbi/Curation">001913</idno>
<idno type="wicri:Area/Ncbi/Checkpoint">001913</idno>
<idno type="wicri:doubleKey">0885-3185:2006:Pankratz N:mutations:in:lrrk</idno>
<idno type="wicri:Area/Main/Merge">004648</idno>
<idno type="wicri:source">INIST</idno>
<idno type="RBID">Pascal:07-0090895</idno>
<idno type="wicri:Area/PascalFrancis/Corpus">001844</idno>
<idno type="wicri:Area/PascalFrancis/Curation">001477</idno>
<idno type="wicri:Area/PascalFrancis/Checkpoint">001A14</idno>
<idno type="wicri:doubleKey">0885-3185:2006:Pankratz N:mutations:in:lrrk</idno>
<idno type="wicri:Area/Main/Merge">004B09</idno>
<idno type="wicri:Area/Main/Curation">003335</idno>
<idno type="wicri:Area/Main/Exploration">003335</idno>
</publicationStmt>
<sourceDesc><biblStruct><analytic><title level="a" type="main" xml:lang="en">Mutations in LRRK2 other than G2019S are rare in a north american–based sample of familial Parkinson's disease</title>
<author><name sortKey="Pankratz, Nathan" sort="Pankratz, Nathan" uniqKey="Pankratz N" first="Nathan" last="Pankratz">Nathan Pankratz</name>
<affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Indiana University Medical Center, Indianapolis, Indiana</wicri:regionArea>
<placeName><region type="state">Indiana</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Pauciulo, Michael W" sort="Pauciulo, Michael W" uniqKey="Pauciulo M" first="Michael W." last="Pauciulo">Michael W. Pauciulo</name>
<affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio</wicri:regionArea>
<placeName><region type="state">Ohio</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Elsaesser, Veronika E" sort="Elsaesser, Veronika E" uniqKey="Elsaesser V" first="Veronika E." last="Elsaesser">Veronika E. Elsaesser</name>
<affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio</wicri:regionArea>
<placeName><region type="state">Ohio</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Marek, Diane K" sort="Marek, Diane K" uniqKey="Marek D" first="Diane K." last="Marek">Diane K. Marek</name>
<affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio</wicri:regionArea>
<placeName><region type="state">Ohio</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Halter, Cheryl A" sort="Halter, Cheryl A" uniqKey="Halter C" first="Cheryl A." last="Halter">Cheryl A. Halter</name>
<affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Indiana University Medical Center, Indianapolis, Indiana</wicri:regionArea>
<placeName><region type="state">Indiana</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Rudolph, Alice" sort="Rudolph, Alice" uniqKey="Rudolph A" first="Alice" last="Rudolph">Alice Rudolph</name>
<affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country>
<wicri:regionArea>University of Rochester, Rochester, New York</wicri:regionArea>
<placeName><region type="state">État de New York</region>
</placeName>
</affiliation>
</author>
<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"><country xml:lang="fr">États-Unis</country>
<wicri:regionArea>University of California, La Jolla, and VA San Diego Healthcare System, San Diego, California</wicri:regionArea>
<placeName><region type="state">Californie</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Foroud, Tatiana" sort="Foroud, Tatiana" uniqKey="Foroud T" first="Tatiana" last="Foroud">Tatiana Foroud</name>
<affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Indiana University Medical Center, Indianapolis, Indiana</wicri:regionArea>
<placeName><region type="state">Indiana</region>
</placeName>
</affiliation>
</author>
<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"><country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio</wicri:regionArea>
<placeName><region type="state">Ohio</region>
</placeName>
</affiliation>
<affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country>
<wicri:regionArea>University of Cincinnati School of Medicine, Cincinnati, Ohio</wicri:regionArea>
<placeName><region type="state">Ohio</region>
</placeName>
</affiliation>
</author>
</analytic>
<monogr></monogr>
<series><title level="j">Movement Disorders</title>
<title level="j" type="sub">Official Journal of the Movement Disorder Society</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="2006-12">2006-12</date>
<biblScope unit="vol">21</biblScope>
<biblScope unit="issue">12</biblScope>
<biblScope unit="page" from="2257">2257</biblScope>
<biblScope unit="page" to="2260">2260</biblScope>
</imprint>
<idno type="ISSN">0885-3185</idno>
</series>
<idno type="istex">AE8D742191B38BC5E52B579390B56A6C6108FA7C</idno>
<idno type="DOI">10.1002/mds.21162</idno>
<idno type="ArticleID">MDS21162</idno>
</biblStruct>
</sourceDesc>
<seriesStmt><idno type="ISSN">0885-3185</idno>
</seriesStmt>
</fileDesc>
<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adolescent</term>
<term>Adult</term>
<term>Aged</term>
<term>Aged, 80 and over</term>
<term>American</term>
<term>Familial disease</term>
<term>Family Health</term>
<term>Female</term>
<term>Genetic Testing (methods)</term>
<term>Glycine (genetics)</term>
<term>Humans</term>
<term>LRRK2</term>
<term>Male</term>
<term>Middle Aged</term>
<term>Mutation</term>
<term>Mutation (genetics)</term>
<term>Nervous system diseases</term>
<term>North</term>
<term>North America (epidemiology)</term>
<term>Parkinson Disease (genetics)</term>
<term>Parkinson disease</term>
<term>Parkinson's disease</term>
<term>Protein-Serine-Threonine Kinases (genetics)</term>
<term>Serine (genetics)</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>North America</term>
</keywords>
<keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Mutation</term>
<term>Parkinson Disease</term>
</keywords>
<keywords scheme="MESH" qualifier="methods" xml:lang="en"><term>Genetic Testing</term>
</keywords>
<keywords scheme="MESH" xml:lang="en"><term>Adolescent</term>
<term>Adult</term>
<term>Aged</term>
<term>Aged, 80 and over</term>
<term>Family Health</term>
<term>Female</term>
<term>Humans</term>
<term>Male</term>
<term>Middle Aged</term>
</keywords>
<keywords scheme="Pascal" xml:lang="fr"><term>Américain</term>
<term>Maladie familiale</term>
<term>Mutation</term>
<term>Nord</term>
<term>Parkinson maladie</term>
<term>Système nerveux pathologie</term>
</keywords>
</textClass>
<langUsage><language ident="en">en</language>
</langUsage>
</profileDesc>
</teiHeader>
<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. © 2006 Movement Disorder Society</div>
</front>
</TEI>
<affiliations><list><country><li>États-Unis</li>
</country>
<region><li>Californie</li>
<li>Indiana</li>
<li>Ohio</li>
<li>État de New York</li>
</region>
</list>
<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>

Pour manipuler ce document sous Unix (Dilib)

EXPLOR_STEP=$WICRI_ROOT/Wicri/Santé/explor/MovDisordV3/Data/Main/Exploration

HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 003335 | SxmlIndent | more

HfdSelect -h $EXPLOR_AREA/Data/Main/Exploration/biblio.hfd -nk 003335 | SxmlIndent | more

Pour mettre un lien sur cette page dans le réseau Wicri

{{Explor lien
   |wiki=    Wicri/Santé
   |area=    MovDisordV3
   |flux=    Main
   |étape=   Exploration
   |type=    RBID
   |clé=     ISTEX:AE8D742191B38BC5E52B579390B56A6C6108FA7C
   |texte=   Mutations in LRRK2 other than G2019S are rare in a north american–based sample of familial Parkinson's disease
}}

This area was generated with Dilib version V0.6.23.
Data generation: Sun Jul 3 12:29:32 2016. Site generation: Wed Feb 14 10:52:30 2024

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...)

Le document en format XML

Pour manipuler ce document sous Unix (Dilib)

Pour mettre un lien sur cette page dans le réseau Wicri

	Movement Disorders (revue)
	Attention, ce site est en cours de développement ! Attention, site généré par des moyens informatiques à partir de corpus bruts. Les informations ne sont donc pas validées.