The LRRK2 R1441C mutation is more frequent than G2019S in Parkinson's disease patients from Southern Italy
Identifieur interne : 000217 ( Main/Exploration ); précédent : 000216; suivant : 000218The LRRK2 R1441C mutation is more frequent than G2019S in Parkinson's disease patients from Southern Italy
Auteurs : Chiara Criscuolo [Pays-Bas, Italie] ; Anna De Rosa [Italie] ; Anna Guacci [Italie] ; Erik J. Simons [Pays-Bas] ; Guido J. Breedveld [Pays-Bas] ; Silvio Peluso [Italie] ; Giampiero Volpe [Italie] ; Alessandro Filla [Italie] ; Ben A. Oostra [Pays-Bas] ; Vincenzo Bonifati [Pays-Bas] ; Giuseppe De Michele [Italie]Source :
- Movement Disorders [ 0885-3185 ] ; 2011-08-01.
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Abstract
Mutations in the leucine‐rich repeat kinase 2 gene are the most frequent cause of familial and sporadic Parkinson's disease, and G2019S is the most common leucine‐rich repeat kinase 2 mutation across several Mediterranean countries.
One hundred ninety‐two patients with Parkinson's disease from Campania, a region in southern Italy, were screened for R1441C/H/G and G2019S by direct sequencing and SfcI digestion.
Among 192 patients with Parkinson's disease (mean age ± SD, 63.9 ± 11.8 years; disease onset, 54.0 ± 12.5 years; family history for Parkinson's disease or tremor, 45%), 8 carried a heterozygous R1441C mutation, whereas only 1 had the G2019S mutation. All R1441C patients originate from the province of Naples and share the same haplotype, suggesting a founder effect.
G2019S is not ubiquitously the most common leucine‐rich repeat kinase 2 mutation; in Campania R1441C is more frequent. Region‐specific mutation prevalence data should be taken into account for a sensitive and cost‐effective molecular diagnosis and counseling of patients with Parkinson's disease. © 2011 Movement Disorder Society
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DOI: 10.1002/mds.23735
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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="2011-08-01">2011-08-01</date><biblScope unit="volume">26</biblScope><biblScope unit="issue">9</biblScope><biblScope unit="page" from="1732">1732</biblScope><biblScope unit="page" to="1736">1736</biblScope></imprint><idno type="ISSN">0885-3185</idno></series><idno type="istex">01F670314E46C3EBD001B0382A1FDE3A22F788D9</idno><idno type="DOI">10.1002/mds.23735</idno><idno type="ArticleID">MDS23735</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0885-3185</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>G2019S</term><term>PARK8</term><term>R1441C</term><term>leucine‐rich repeat kinase 2</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract">Mutations in the leucine‐rich repeat kinase 2 gene are the most frequent cause of familial and sporadic Parkinson's disease, and G2019S is the most common leucine‐rich repeat kinase 2 mutation across several Mediterranean countries.</div><div type="abstract">One hundred ninety‐two patients with Parkinson's disease from Campania, a region in southern Italy, were screened for R1441C/H/G and G2019S by direct sequencing and SfcI digestion.</div><div type="abstract">Among 192 patients with Parkinson's disease (mean age ± SD, 63.9 ± 11.8 years; disease onset, 54.0 ± 12.5 years; family history for Parkinson's disease or tremor, 45%), 8 carried a heterozygous R1441C mutation, whereas only 1 had the G2019S mutation. All R1441C patients originate from the province of Naples and share the same haplotype, suggesting a founder effect.</div><div type="abstract">G2019S is not ubiquitously the most common leucine‐rich repeat kinase 2 mutation; in Campania R1441C is more frequent. Region‐specific mutation prevalence data should be taken into account for a sensitive and cost‐effective molecular diagnosis and counseling of patients with Parkinson's disease. © 2011 Movement Disorder Society</div></front></TEI><affiliations><list><country><li>Italie</li><li>Pays-Bas</li></country><region><li>Hollande-Méridionale</li></region><settlement><li>Rotterdam</li></settlement></list><tree><country name="Pays-Bas"><region name="Hollande-Méridionale"><name sortKey="Criscuolo, Chiara" sort="Criscuolo, Chiara" uniqKey="Criscuolo C" first="Chiara" last="Criscuolo">Chiara Criscuolo</name></region><name sortKey="Bonifati, Vincenzo" sort="Bonifati, Vincenzo" uniqKey="Bonifati V" first="Vincenzo" last="Bonifati">Vincenzo Bonifati</name><name sortKey="Breedveld, Guido J" sort="Breedveld, Guido J" uniqKey="Breedveld G" first="Guido J." last="Breedveld">Guido J. Breedveld</name><name sortKey="Oostra, Ben A" sort="Oostra, Ben A" uniqKey="Oostra B" first="Ben A." last="Oostra">Ben A. Oostra</name><name sortKey="Simons, Erik J" sort="Simons, Erik J" uniqKey="Simons E" first="Erik J." last="Simons">Erik J. Simons</name></country><country name="Italie"><noRegion><name sortKey="Criscuolo, Chiara" sort="Criscuolo, Chiara" uniqKey="Criscuolo C" first="Chiara" last="Criscuolo">Chiara Criscuolo</name></noRegion><name sortKey="Criscuolo, Chiara" sort="Criscuolo, Chiara" uniqKey="Criscuolo C" first="Chiara" last="Criscuolo">Chiara Criscuolo</name><name sortKey="De Michele, Giuseppe" sort="De Michele, Giuseppe" uniqKey="De Michele G" first="Giuseppe" last="De Michele">Giuseppe De Michele</name><name sortKey="De Rosa, Anna" sort="De Rosa, Anna" uniqKey="De Rosa A" first="Anna" last="De Rosa">Anna De Rosa</name><name sortKey="Filla, Alessandro" sort="Filla, Alessandro" uniqKey="Filla A" first="Alessandro" last="Filla">Alessandro Filla</name><name sortKey="Guacci, Anna" sort="Guacci, Anna" uniqKey="Guacci A" first="Anna" last="Guacci">Anna Guacci</name><name sortKey="Peluso, Silvio" sort="Peluso, Silvio" uniqKey="Peluso S" first="Silvio" last="Peluso">Silvio Peluso</name><name sortKey="Volpe, Giampiero" sort="Volpe, Giampiero" uniqKey="Volpe G" first="Giampiero" last="Volpe">Giampiero Volpe</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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