MovDisordV3, Main, Exploration, bibRecord, 001100

High Frequency of Parkin Exon Rearrangements in Mexican-Mestizo Patients with Early-Onset Parkinson's Disease

Identifieur interne : 001100 ( Main/Exploration ); précédent : 001099; suivant : 001101

High Frequency of Parkin Exon Rearrangements in Mexican-Mestizo Patients with Early-Onset Parkinson's Disease

Auteurs : Jorge Luis Guerrero Camacho [Mexique] ; Nancy Monroy Jaramillo [Mexique] ; Petra Yescas Gomez [Mexique] ; Mayela Rodriguez Violante [Mexique] ; Catherine Boll Woehrlen [Mexique] ; Ma. Elisa Alonso Vilatela [Mexique] ; Marisol Lopez Lopez [Mexique]

Source :

Movement disorders [ 0885-3185 ] ; 2012.

RBID : Pascal:12-0315942

Descripteurs français

Pascal (Inist)
- Maladie de Parkinson, Pathologie du système nerveux, Haute fréquence, Parkine, Exon, Homme, Mutation.
Wicri :
- topic : Homme.

English descriptors

KwdEn :
- Exon, High frequency, Human, Mutation, Nervous system diseases, Parkin, Parkinson disease.

Abstract

Background: Parkin mutations in patients with early-onset Parkinson's disease (EOPD) are estimated to occur in 49% of familial cases and 18% of sporadic cases. Methods: We analyzed the entire sequence-coding region and dosage mutations of parkin in 63 Mexican-mestizo EOPD patients and 120 controls. Results: Parkin mutations were present in 34 patients (54.0%). Exon rearrangements, predominantly spanning exons 9 and 12 (31.7% and 19.0%, respectively) were present in 32 patients, with 17.5% carrying simple heterozygous and 25.4% carrying compound heterozygous parkin mutations. Conclusions: A higher frequency of parkin exon rearrangements than of sequence mutations was observed. Patients with parkin exons 9 and 12 rearrangements showed a later age at onset than did cases with other regions affected (40.3 ± 4.5 vs 30.1 ± 8.8; P = .005), suggesting a mutational hot spot in the etiology of Mexican-mestizo patients with EOPD. To our knowledge, this study represents the largest sampling of Mexican-mestizo patients with EOPD cases for which parkin sequence and dosage alterations were analyzed.

Affiliations:

Mexique

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Le document en format XML

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<author><name sortKey="Guerrero Camacho, Jorge Luis" sort="Guerrero Camacho, Jorge Luis" uniqKey="Guerrero Camacho J" first="Jorge Luis" last="Guerrero Camacho">Jorge Luis Guerrero Camacho</name>
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<s2>Mexico City</s2>
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<affiliation wicri:level="1"><inist:fA14 i1="02"><s1>PhD candidate in Biological Sciences, Universidad Autónoma Metropolitana</s1>
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<author><name sortKey="Monroy Jaramillo, Nancy" sort="Monroy Jaramillo, Nancy" uniqKey="Monroy Jaramillo N" first="Nancy" last="Monroy Jaramillo">Nancy Monroy Jaramillo</name>
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<author><name sortKey="Yescas Gomez, Petra" sort="Yescas Gomez, Petra" uniqKey="Yescas Gomez P" first="Petra" last="Yescas Gomez">Petra Yescas Gomez</name>
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<author><name sortKey="Boll Woehrlen, Catherine" sort="Boll Woehrlen, Catherine" uniqKey="Boll Woehrlen C" first="Catherine" last="Boll Woehrlen">Catherine Boll Woehrlen</name>
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<author><name sortKey="Alonso Vilatela, Ma Elisa" sort="Alonso Vilatela, Ma Elisa" uniqKey="Alonso Vilatela M" first="Ma. Elisa" last="Alonso Vilatela">Ma. Elisa Alonso Vilatela</name>
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<author><name sortKey="Lopez Lopez, Marisol" sort="Lopez Lopez, Marisol" uniqKey="Lopez Lopez M" first="Marisol" last="Lopez Lopez">Marisol Lopez Lopez</name>
<affiliation wicri:level="1"><inist:fA14 i1="05"><s1>Biological Systems Department, Universidad Autónoma Metropolitana, Campus Xochimilco</s1>
<s2>Mexico City</s2>
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<wicri:noRegion>Mexico City</wicri:noRegion>
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<affiliation wicri:level="1"><inist:fA14 i1="02"><s1>PhD candidate in Biological Sciences, Universidad Autónoma Metropolitana</s1>
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<sZ>1 aut.</sZ>
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<author><name sortKey="Monroy Jaramillo, Nancy" sort="Monroy Jaramillo, Nancy" uniqKey="Monroy Jaramillo N" first="Nancy" last="Monroy Jaramillo">Nancy Monroy Jaramillo</name>
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<s2>Mexico City</s2>
<s3>MEX</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
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<author><name sortKey="Yescas Gomez, Petra" sort="Yescas Gomez, Petra" uniqKey="Yescas Gomez P" first="Petra" last="Yescas Gomez">Petra Yescas Gomez</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Neurogenetics Department, National Institute of Neurology and Neurosurgery "Manuel Velasco Suárez</s1>
<s2>Mexico City</s2>
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<wicri:noRegion>Mexico City</wicri:noRegion>
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<author><name sortKey="Rodriguez Violante, Mayela" sort="Rodriguez Violante, Mayela" uniqKey="Rodriguez Violante M" first="Mayela" last="Rodriguez Violante">Mayela Rodriguez Violante</name>
<affiliation wicri:level="1"><inist:fA14 i1="03"><s1>Movement Disorders Clinic, National Institute of Neurology and Neurosurgery "Manuel Velasco Suárez</s1>
<s2>Mexico City</s2>
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</inist:fA14>
<country>Mexique</country>
<wicri:noRegion>Mexico City</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Boll Woehrlen, Catherine" sort="Boll Woehrlen, Catherine" uniqKey="Boll Woehrlen C" first="Catherine" last="Boll Woehrlen">Catherine Boll Woehrlen</name>
<affiliation wicri:level="1"><inist:fA14 i1="04"><s1>Neurology Division, National Institute of Neurology and Neurosurgery "Manuel Velasco Suárez</s1>
<s2>Mexico City</s2>
<s3>MEX</s3>
<sZ>5 aut.</sZ>
</inist:fA14>
<country>Mexique</country>
<wicri:noRegion>Mexico City</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Alonso Vilatela, Ma Elisa" sort="Alonso Vilatela, Ma Elisa" uniqKey="Alonso Vilatela M" first="Ma. Elisa" last="Alonso Vilatela">Ma. Elisa Alonso Vilatela</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Neurogenetics Department, National Institute of Neurology and Neurosurgery "Manuel Velasco Suárez</s1>
<s2>Mexico City</s2>
<s3>MEX</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>6 aut.</sZ>
</inist:fA14>
<country>Mexique</country>
<wicri:noRegion>Mexico City</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Lopez Lopez, Marisol" sort="Lopez Lopez, Marisol" uniqKey="Lopez Lopez M" first="Marisol" last="Lopez Lopez">Marisol Lopez Lopez</name>
<affiliation wicri:level="1"><inist:fA14 i1="05"><s1>Biological Systems Department, Universidad Autónoma Metropolitana, Campus Xochimilco</s1>
<s2>Mexico City</s2>
<s3>MEX</s3>
<sZ>7 aut.</sZ>
</inist:fA14>
<country>Mexique</country>
<wicri:noRegion>Mexico City</wicri:noRegion>
</affiliation>
</author>
</analytic>
<series><title level="j" type="main">Movement disorders</title>
<title level="j" type="abbreviated">Mov. disord.</title>
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<imprint><date when="2012">2012</date>
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<seriesStmt><title level="j" type="main">Movement disorders</title>
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<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Exon</term>
<term>High frequency</term>
<term>Human</term>
<term>Mutation</term>
<term>Nervous system diseases</term>
<term>Parkin</term>
<term>Parkinson disease</term>
</keywords>
<keywords scheme="Pascal" xml:lang="fr"><term>Maladie de Parkinson</term>
<term>Pathologie du   système nerveux</term>
<term>Haute fréquence</term>
<term>Parkine</term>
<term>Exon</term>
<term>Homme</term>
<term>Mutation</term>
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<keywords scheme="Wicri" type="topic" xml:lang="fr"><term>Homme</term>
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<front><div type="abstract" xml:lang="en">Background: Parkin mutations in patients with early-onset Parkinson's disease (EOPD) are estimated to occur in 49% of familial cases and 18% of sporadic cases. Methods: We analyzed the entire sequence-coding region and dosage mutations of parkin in 63 Mexican-mestizo EOPD patients and 120 controls. Results: Parkin mutations were present in 34 patients (54.0%). Exon rearrangements, predominantly spanning exons 9 and 12 (31.7% and 19.0%, respectively) were present in 32 patients, with 17.5% carrying simple heterozygous and 25.4% carrying compound heterozygous parkin mutations. Conclusions: A higher frequency of parkin exon rearrangements than of sequence mutations was observed. Patients with parkin exons 9 and 12 rearrangements showed a later age at onset than did cases with other regions affected (40.3 ± 4.5 vs 30.1 ± 8.8; P = .005), suggesting a mutational hot spot in the etiology of Mexican-mestizo patients with EOPD. To our knowledge, this study represents the largest sampling of Mexican-mestizo patients with EOPD cases for which parkin sequence and dosage alterations were analyzed.</div>
</front>
</TEI>
<affiliations><list><country><li>Mexique</li>
</country>
</list>
<tree><country name="Mexique"><noRegion><name sortKey="Guerrero Camacho, Jorge Luis" sort="Guerrero Camacho, Jorge Luis" uniqKey="Guerrero Camacho J" first="Jorge Luis" last="Guerrero Camacho">Jorge Luis Guerrero Camacho</name>
</noRegion>
<name sortKey="Alonso Vilatela, Ma Elisa" sort="Alonso Vilatela, Ma Elisa" uniqKey="Alonso Vilatela M" first="Ma. Elisa" last="Alonso Vilatela">Ma. Elisa Alonso Vilatela</name>
<name sortKey="Boll Woehrlen, Catherine" sort="Boll Woehrlen, Catherine" uniqKey="Boll Woehrlen C" first="Catherine" last="Boll Woehrlen">Catherine Boll Woehrlen</name>
<name sortKey="Guerrero Camacho, Jorge Luis" sort="Guerrero Camacho, Jorge Luis" uniqKey="Guerrero Camacho J" first="Jorge Luis" last="Guerrero Camacho">Jorge Luis Guerrero Camacho</name>
<name sortKey="Lopez Lopez, Marisol" sort="Lopez Lopez, Marisol" uniqKey="Lopez Lopez M" first="Marisol" last="Lopez Lopez">Marisol Lopez Lopez</name>
<name sortKey="Monroy Jaramillo, Nancy" sort="Monroy Jaramillo, Nancy" uniqKey="Monroy Jaramillo N" first="Nancy" last="Monroy Jaramillo">Nancy Monroy Jaramillo</name>
<name sortKey="Rodriguez Violante, Mayela" sort="Rodriguez Violante, Mayela" uniqKey="Rodriguez Violante M" first="Mayela" last="Rodriguez Violante">Mayela Rodriguez Violante</name>
<name sortKey="Yescas Gomez, Petra" sort="Yescas Gomez, Petra" uniqKey="Yescas Gomez P" first="Petra" last="Yescas Gomez">Petra Yescas Gomez</name>
</country>
</tree>
</affiliations>
</record>

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	Movement Disorders (revue)
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Movement Disorders (revue)

High Frequency of Parkin Exon Rearrangements in Mexican-Mestizo Patients with Early-Onset Parkinson's Disease

High Frequency of Parkin Exon Rearrangements in Mexican-Mestizo Patients with Early-Onset 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