How much phenotypic variation can be attributed to parkin genotype?
Identifieur interne : 000C91 ( Istex/Checkpoint ); précédent : 000C90; suivant : 000C92How much phenotypic variation can be attributed to parkin genotype?
Auteurs : Ebba Lohmann [France] ; Magali Periquet [France] ; Vincenzo Bonifati [Italie] ; Nick W. Wood [Royaume-Uni] ; Giuseppe De Michele [Italie] ; Anne-Marie Bonnet [France] ; Valérie Fraix [France] ; Emmanuel Broussolle [France] ; Martin W. I. M. Horstink [Pays-Bas] ; Marie Vidailhet [France] ; Patrice Verpillat [France] ; Thomas Gasser [Allemagne] ; David Nicholl [Royaume-Uni] ; Hélio Teive [Brésil] ; Salmo Raskin [Brésil] ; Olivier Rascol ; Alain Destée [France] ; Merle Ruberg [France] ; Francesca Gasparini [France] ; Giuseppe Meco [Italie] ; Yves Agid [France] ; Alexandra Durr [France] ; Alexis Brice [France]Source :
- Annals of Neurology [ 0364-5134 ] ; 2003-08.
Abstract
To establish phenotype–genotype correlations in early‐onset parkinsonism, we have compared the phenotype of a large series of 146 patients with and 250 patients without parkin mutations. Although no single sign distinguished the groups, patients with mutations had significantly earlier and more symmetrical onset, dystonia more often at onset and hyperreflexia, slower progression of the disease, and a tendency toward a greater response to levodopa despite lower doses. After forward stepwise multiple logistic regression analysis, dystonia at onset and brisk reflexes were not longer significantly different but were correlated with age at onset rather than the presence of the parkin mutation. Age at onset in carriers of parkin mutations varied as did the rate of progression of the disease: the younger the age at onset the slower the evolution. The genotype influenced the phenotype: carriers of at least one missense mutation had a higher United Parkinson's Disease Rating Scale motor score than those carrying two truncating mutations. The localization of the mutations was also important because missense mutations in functional domains of parkin resulted in earlier onset. Patients with a single heterozygous mutation had significantly later and more asymmetrical onset and more frequent levodopa‐induced fluctuations and dystonia than patients with two mutations. Ann Neurol 2003
Url:
DOI: 10.1002/ana.10613
Affiliations:
- Allemagne, Brésil, France, Italie, Pays-Bas, Royaume-Uni
- Angleterre, Grand Londres, Gueldre, Hauts-de-France, Latium, Midlands de l'Ouest, Nord-Pas-de-Calais, Île-de-France
- Birmingham, Lille, Londres, Nimègue, Paris, Rome
- Hôpital de la Salpêtrière, Université Lille 2, Université Lille Nord de France
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ISTEX:8102A84AE65564CFF96B0DCEDB6A81510425F787Le document en format XML
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<front><div type="abstract" xml:lang="en">To establish phenotype–genotype correlations in early‐onset parkinsonism, we have compared the phenotype of a large series of 146 patients with and 250 patients without parkin mutations. Although no single sign distinguished the groups, patients with mutations had significantly earlier and more symmetrical onset, dystonia more often at onset and hyperreflexia, slower progression of the disease, and a tendency toward a greater response to levodopa despite lower doses. After forward stepwise multiple logistic regression analysis, dystonia at onset and brisk reflexes were not longer significantly different but were correlated with age at onset rather than the presence of the parkin mutation. Age at onset in carriers of parkin mutations varied as did the rate of progression of the disease: the younger the age at onset the slower the evolution. The genotype influenced the phenotype: carriers of at least one missense mutation had a higher United Parkinson's Disease Rating Scale motor score than those carrying two truncating mutations. The localization of the mutations was also important because missense mutations in functional domains of parkin resulted in earlier onset. Patients with a single heterozygous mutation had significantly later and more asymmetrical onset and more frequent levodopa‐induced fluctuations and dystonia than patients with two mutations. Ann Neurol 2003</div>
</front>
</TEI>
<affiliations><list><country><li>Allemagne</li>
<li>Brésil</li>
<li>France</li>
<li>Italie</li>
<li>Pays-Bas</li>
<li>Royaume-Uni</li>
</country>
<region><li>Angleterre</li>
<li>Grand Londres</li>
<li>Gueldre</li>
<li>Hauts-de-France</li>
<li>Latium</li>
<li>Midlands de l'Ouest</li>
<li>Nord-Pas-de-Calais</li>
<li>Île-de-France</li>
</region>
<settlement><li>Birmingham</li>
<li>Lille</li>
<li>Londres</li>
<li>Nimègue</li>
<li>Paris</li>
<li>Rome</li>
</settlement>
<orgName><li>Hôpital de la Salpêtrière</li>
<li>Université Lille 2</li>
<li>Université Lille Nord de France</li>
</orgName>
</list>
<tree><noCountry><name sortKey="Rascol, Olivier" sort="Rascol, Olivier" uniqKey="Rascol O" first="Olivier" last="Rascol">Olivier Rascol</name>
</noCountry>
<country name="France"><region name="Île-de-France"><name sortKey="Lohmann, Ebba" sort="Lohmann, Ebba" uniqKey="Lohmann E" first="Ebba" last="Lohmann">Ebba Lohmann</name>
</region>
<name sortKey="Agid, Yves" sort="Agid, Yves" uniqKey="Agid Y" first="Yves" last="Agid">Yves Agid</name>
<name sortKey="Agid, Yves" sort="Agid, Yves" uniqKey="Agid Y" first="Yves" last="Agid">Yves Agid</name>
<name sortKey="Bonnet, Anne Arie" sort="Bonnet, Anne Arie" uniqKey="Bonnet A" first="Anne-Marie" last="Bonnet">Anne-Marie Bonnet</name>
<name sortKey="Brice, Alexis" sort="Brice, Alexis" uniqKey="Brice A" first="Alexis" last="Brice">Alexis Brice</name>
<name sortKey="Brice, Alexis" sort="Brice, Alexis" uniqKey="Brice A" first="Alexis" last="Brice">Alexis Brice</name>
<name sortKey="Brice, Alexis" sort="Brice, Alexis" uniqKey="Brice A" first="Alexis" last="Brice">Alexis Brice</name>
<name sortKey="Brice, Alexis" sort="Brice, Alexis" uniqKey="Brice A" first="Alexis" last="Brice">Alexis Brice</name>
<name sortKey="Broussolle, Emmanuel" sort="Broussolle, Emmanuel" uniqKey="Broussolle E" first="Emmanuel" last="Broussolle">Emmanuel Broussolle</name>
<name sortKey="Destee, Alain" sort="Destee, Alain" uniqKey="Destee A" first="Alain" last="Destée">Alain Destée</name>
<name sortKey="Durr, Alexandra" sort="Durr, Alexandra" uniqKey="Durr A" first="Alexandra" last="Durr">Alexandra Durr</name>
<name sortKey="Durr, Alexandra" sort="Durr, Alexandra" uniqKey="Durr A" first="Alexandra" last="Durr">Alexandra Durr</name>
<name sortKey="Fraix, Valerie" sort="Fraix, Valerie" uniqKey="Fraix V" first="Valérie" last="Fraix">Valérie Fraix</name>
<name sortKey="Gasparini, Francesca" sort="Gasparini, Francesca" uniqKey="Gasparini F" first="Francesca" last="Gasparini">Francesca Gasparini</name>
<name sortKey="Periquet, Magali" sort="Periquet, Magali" uniqKey="Periquet M" first="Magali" last="Periquet">Magali Periquet</name>
<name sortKey="Ruberg, Merle" sort="Ruberg, Merle" uniqKey="Ruberg M" first="Merle" last="Ruberg">Merle Ruberg</name>
<name sortKey="Verpillat, Patrice" sort="Verpillat, Patrice" uniqKey="Verpillat P" first="Patrice" last="Verpillat">Patrice Verpillat</name>
<name sortKey="Verpillat, Patrice" sort="Verpillat, Patrice" uniqKey="Verpillat P" first="Patrice" last="Verpillat">Patrice Verpillat</name>
<name sortKey="Vidailhet, Marie" sort="Vidailhet, Marie" uniqKey="Vidailhet M" first="Marie" last="Vidailhet">Marie Vidailhet</name>
<name sortKey="Vidailhet, Marie" sort="Vidailhet, Marie" uniqKey="Vidailhet M" first="Marie" last="Vidailhet">Marie Vidailhet</name>
</country>
<country name="Italie"><region name="Latium"><name sortKey="Bonifati, Vincenzo" sort="Bonifati, Vincenzo" uniqKey="Bonifati V" first="Vincenzo" last="Bonifati">Vincenzo Bonifati</name>
</region>
<name sortKey="De Michele, Giuseppe" sort="De Michele, Giuseppe" uniqKey="De Michele G" first="Giuseppe" last="De Michele">Giuseppe De Michele</name>
<name sortKey="Meco, Giuseppe" sort="Meco, Giuseppe" uniqKey="Meco G" first="Giuseppe" last="Meco">Giuseppe Meco</name>
</country>
<country name="Royaume-Uni"><region name="Angleterre"><name sortKey="Wood, Nick W" sort="Wood, Nick W" uniqKey="Wood N" first="Nick W." last="Wood">Nick W. Wood</name>
</region>
<name sortKey="Nicholl, David" sort="Nicholl, David" uniqKey="Nicholl D" first="David" last="Nicholl">David Nicholl</name>
</country>
<country name="Pays-Bas"><region name="Gueldre"><name sortKey="Horstink, Martin W I M" sort="Horstink, Martin W I M" uniqKey="Horstink M" first="Martin W. I. M." last="Horstink">Martin W. I. M. Horstink</name>
</region>
</country>
<country name="Allemagne"><noRegion><name sortKey="Gasser, Thomas" sort="Gasser, Thomas" uniqKey="Gasser T" first="Thomas" last="Gasser">Thomas Gasser</name>
</noRegion>
</country>
<country name="Brésil"><noRegion><name sortKey="Teive, Helio" sort="Teive, Helio" uniqKey="Teive H" first="Hélio" last="Teive">Hélio Teive</name>
</noRegion>
<name sortKey="Raskin, Salmo" sort="Raskin, Salmo" uniqKey="Raskin S" first="Salmo" last="Raskin">Salmo Raskin</name>
</country>
</tree>
</affiliations>
</record>
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