Chromosome 6–Linked Autosomal Recessive Early-Onset Parkinsonism: Linkage in European and Algerian Families, Extension of the Clinical Spectrum, and Evidence of a Small Homozygous Deletion in One Family
Identifieur interne : 000241 ( France/Analysis ); précédent : 000240; suivant : 000242Chromosome 6–Linked Autosomal Recessive Early-Onset Parkinsonism: Linkage in European and Algerian Families, Extension of the Clinical Spectrum, and Evidence of a Small Homozygous Deletion in One Family
Auteurs : Johann Tassin ; Alexandra Dürr ; Thomas De Broucker [France] ; Nacer Abbas ; Vincenzo Bonifati ; Giuseppe De Michele ; Anne-Marie Bonnet ; Emmanuel Broussolle ; Pierre Pollak [France] ; Marie Vidailhet ; Michele De Mari ; Roberto Marconi [Italie] ; Soraya Medjbeur ; Allessandro Filla ; Giuseppe Meco ; Yves Agid [France] ; Alexis Brice [France]Source :
- The American Journal of Human Genetics [ 0002-9297 ] ; 1998.
English descriptors
- KwdEn :
Abstract
SummaryThe gene for autosomal recessive juvenile Parkinsonism (AR-JP) recently has been mapped to chromosome 6q25.2–27 in Japanese families. We have tested one Algerian and 10 European multiplex families with early-onset Parkinson disease for linkage to this locus, with marker D6S305. Homogeneity analysis provided a conditional probability in favor of linkage of >.9 in eight families, which were analyzed further with eight microsatellite markers spanning the 17-cM AR-JP region. Haplotype reconstruction for eight families and determination of the smallest region of homozygosity in two consanguineous families reduced the candidate interval to 11.3 cM. If the deletion of two microsatellite markers (D6S411 and D6S1550) that colocalize on the genetic map and that segregate with the disease in the Algerian family is taken into account, the candidate region would be reduced to <1 cM. These findings should facilitate identification of the corresponding gene. We have confirmed linkage of AR-JP, in European families and in an Algerian family, to the PARK2 locus. PARK2 appears to be an important locus for AR-JP in European patients. The clinical spectrum of the disease in our families, with age at onset ≤58 years and the presence of painful dystonia in some patients, is broader than that reported previously.
Url:
DOI: 10.1086/301934
Affiliations:
- France, Italie
- Auvergne-Rhône-Alpes, Rhône-Alpes, Île-de-France
- Grenoble, Paris, Saint-Denis (Seine-Saint-Denis)
- Centre hospitalier universitaire Grenoble Alpes, Hôpital de la Salpêtrière
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ISTEX:3F3B23B2DB119A46A75D7E33031F885BB4BF24FCLe document en format XML
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last="Bonifati">Vincenzo Bonifati</name></author><author><name sortKey="De Michele, Giuseppe" sort="De Michele, Giuseppe" uniqKey="De Michele G" first="Giuseppe" last="De Michele">Giuseppe De Michele</name></author><author><name sortKey="Bonnet, Anne Marie" sort="Bonnet, Anne Marie" uniqKey="Bonnet A" first="Anne-Marie" last="Bonnet">Anne-Marie Bonnet</name></author><author><name sortKey="Broussolle, Emmanuel" sort="Broussolle, Emmanuel" uniqKey="Broussolle E" first="Emmanuel" last="Broussolle">Emmanuel Broussolle</name></author><author><name sortKey="Pollak, Pierre" sort="Pollak, Pierre" uniqKey="Pollak P" first="Pierre" last="Pollak">Pierre Pollak</name><affiliation><country>France</country><placeName><settlement type="city">Grenoble</settlement><region type="region" nuts="2">Auvergne-Rhône-Alpes</region><region type="old region" nuts="2">Rhône-Alpes</region></placeName><orgName type="hospital" n="4">Centre hospitalier universitaire Grenoble 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level="a" type="main" xml:lang="en">Chromosome 6–Linked Autosomal Recessive Early-Onset Parkinsonism: Linkage in European and Algerian Families, Extension of the Clinical Spectrum, and Evidence of a Small Homozygous Deletion in One Family</title><author><name sortKey="Tassin, Johann" sort="Tassin, Johann" uniqKey="Tassin J" first="Johann" last="Tassin">Johann Tassin</name><affiliation><wicri:noCountry code="subField">Paris;</wicri:noCountry></affiliation></author><author><name sortKey="Durr, Alexandra" sort="Durr, Alexandra" uniqKey="Durr A" first="Alexandra" last="Dürr">Alexandra Dürr</name><affiliation><wicri:noCountry code="subField">Paris;</wicri:noCountry></affiliation></author><author><name sortKey="De Broucker, Thomas" sort="De Broucker, Thomas" uniqKey="De Broucker T" first="Thomas" last="De Broucker">Thomas De Broucker</name><affiliation wicri:level="1"><country xml:lang="fr" wicri:curation="lc">France</country><wicri:regionArea>Service de Neurologie, Hôpital Casanova, Saint Denis</wicri:regionArea><placeName><region type="région">Île-de-France</region><settlement type="city">Saint-Denis (Seine-Saint-Denis)</settlement></placeName></affiliation></author><author><name sortKey="Abbas, Nacer" sort="Abbas, Nacer" uniqKey="Abbas N" first="Nacer" last="Abbas">Nacer Abbas</name><affiliation><wicri:noCountry code="subField">Paris;</wicri:noCountry></affiliation></author><author><name sortKey="Bonifati, Vincenzo" sort="Bonifati, Vincenzo" uniqKey="Bonifati V" first="Vincenzo" last="Bonifati">Vincenzo Bonifati</name><affiliation><wicri:noCountry code="subField">” Rome;</wicri:noCountry></affiliation></author><author><name sortKey="De Michele, Giuseppe" sort="De Michele, Giuseppe" uniqKey="De Michele G" first="Giuseppe" last="De Michele">Giuseppe De Michele</name><affiliation><wicri:noCountry code="subField">Naples;</wicri:noCountry></affiliation></author><author><name sortKey="Bonnet, Anne Marie" sort="Bonnet, Anne Marie" uniqKey="Bonnet A" first="Anne-Marie" last="Bonnet">Anne-Marie Bonnet</name><affiliation><wicri:noCountry code="subField">Paris;</wicri:noCountry></affiliation></author><author><name sortKey="Broussolle, Emmanuel" sort="Broussolle, Emmanuel" uniqKey="Broussolle E" first="Emmanuel" last="Broussolle">Emmanuel Broussolle</name><affiliation><wicri:noCountry code="subField">Lyon;</wicri:noCountry></affiliation></author><author><name sortKey="Pollak, Pierre" sort="Pollak, Pierre" uniqKey="Pollak P" first="Pierre" last="Pollak">Pierre Pollak</name><affiliation wicri:level="1"><country xml:lang="fr" wicri:curation="lc">France</country><wicri:regionArea>Centre Hospitalier Régional, Grenoble</wicri:regionArea><placeName><settlement type="city">Grenoble</settlement></placeName><placeName><settlement type="city">Grenoble</settlement><region type="region" nuts="2">Auvergne-Rhône-Alpes</region><region type="old region" nuts="2">Rhône-Alpes</region></placeName><orgName type="hospital" n="4">Centre hospitalier universitaire Grenoble Alpes</orgName></affiliation></author><author><name sortKey="Vidailhet, Marie" sort="Vidailhet, Marie" uniqKey="Vidailhet M" first="Marie" last="Vidailhet">Marie Vidailhet</name><affiliation><wicri:noCountry code="subField">Paris;</wicri:noCountry></affiliation></author><author><name sortKey="De Mari, Michele" sort="De Mari, Michele" uniqKey="De Mari M" first="Michele" last="De Mari">Michele De Mari</name><affiliation><wicri:noCountry code="subField">Italy; and</wicri:noCountry></affiliation></author><author><name sortKey="Marconi, Roberto" sort="Marconi, Roberto" uniqKey="Marconi R" first="Roberto" last="Marconi">Roberto Marconi</name><affiliation wicri:level="1"><country xml:lang="fr">Italie</country><wicri:regionArea>Divisione di Neurologia, Ospedale Misericordia, Grosseto</wicri:regionArea><wicri:noRegion>Grosseto</wicri:noRegion></affiliation></author><author><name sortKey="Medjbeur, Soraya" sort="Medjbeur, Soraya" uniqKey="Medjbeur S" first="Soraya" last="Medjbeur">Soraya Medjbeur</name><affiliation><wicri:noCountry code="subField">Paris;</wicri:noCountry></affiliation></author><author><name sortKey="Filla, Allessandro" sort="Filla, Allessandro" uniqKey="Filla A" first="Allessandro" last="Filla">Allessandro Filla</name><affiliation><wicri:noCountry code="subField">Naples;</wicri:noCountry></affiliation></author><author><name sortKey="Meco, Giuseppe" sort="Meco, Giuseppe" uniqKey="Meco G" first="Giuseppe" last="Meco">Giuseppe Meco</name><affiliation><wicri:noCountry code="subField">” Rome;</wicri:noCountry></affiliation></author><author><name sortKey="Agid, Yves" sort="Agid, Yves" uniqKey="Agid Y" first="Yves" last="Agid">Yves Agid</name><affiliation><wicri:noCountry code="subField">Paris;</wicri:noCountry><country>France</country><placeName><settlement type="city">Paris</settlement><region type="region" nuts="2">Île-de-France</region></placeName><orgName type="hospital" n="4">Hôpital de la Salpêtrière</orgName></affiliation></author><author><name sortKey="Brice, Alexis" sort="Brice, Alexis" uniqKey="Brice A" first="Alexis" last="Brice">Alexis Brice</name><affiliation wicri:level="1"><country wicri:rule="url">France</country></affiliation><affiliation><wicri:noCountry code="subField">Paris;</wicri:noCountry></affiliation></author></analytic><monogr></monogr><series><title level="j">The American Journal of Human Genetics</title><title level="j" type="abbrev">AJHG</title><idno type="ISSN">0002-9297</idno><imprint><publisher>ELSEVIER</publisher><date type="published" when="1998">1998</date><biblScope unit="volume">63</biblScope><biblScope unit="issue">1</biblScope><biblScope unit="page" from="88">88</biblScope><biblScope unit="page" to="94">94</biblScope></imprint><idno type="ISSN">0002-9297</idno></series><idno type="istex">3F3B23B2DB119A46A75D7E33031F885BB4BF24FC</idno><idno type="DOI">10.1086/301934</idno><idno type="PII">S0002-9297(07)60774-5</idno><idno type="ArticleID">60774</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0002-9297</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Autosomal recessive</term><term>Chromosome 6</term><term>Deletion</term><term>Juvenile onset</term><term>Linkage</term><term>Parkinson disease</term><term>SOD2</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract">SummaryThe gene for autosomal recessive juvenile Parkinsonism (AR-JP) recently has been mapped to chromosome 6q25.2–27 in Japanese families. We have tested one Algerian and 10 European multiplex families with early-onset Parkinson disease for linkage to this locus, with marker D6S305. Homogeneity analysis provided a conditional probability in favor of linkage of >.9 in eight families, which were analyzed further with eight microsatellite markers spanning the 17-cM AR-JP region. Haplotype reconstruction for eight families and determination of the smallest region of homozygosity in two consanguineous families reduced the candidate interval to 11.3 cM. If the deletion of two microsatellite markers (D6S411 and D6S1550) that colocalize on the genetic map and that segregate with the disease in the Algerian family is taken into account, the candidate region would be reduced to <1 cM. These findings should facilitate identification of the corresponding gene. We have confirmed linkage of AR-JP, in European families and in an Algerian family, to the PARK2 locus. PARK2 appears to be an important locus for AR-JP in European patients. The clinical spectrum of the disease in our families, with age at onset ≤58 years and the presence of painful dystonia in some patients, is broader than that reported previously.</div></front></TEI><affiliations><list><country><li>France</li><li>Italie</li></country><region><li>Auvergne-Rhône-Alpes</li><li>Rhône-Alpes</li><li>Île-de-France</li></region><settlement><li>Grenoble</li><li>Paris</li><li>Saint-Denis (Seine-Saint-Denis)</li></settlement><orgName><li>Centre hospitalier universitaire Grenoble Alpes</li><li>Hôpital de la Salpêtrière</li></orgName></list><tree><noCountry><name sortKey="Abbas, Nacer" sort="Abbas, Nacer" uniqKey="Abbas N" first="Nacer" last="Abbas">Nacer Abbas</name><name sortKey="Bonifati, Vincenzo" sort="Bonifati, Vincenzo" uniqKey="Bonifati V" first="Vincenzo" last="Bonifati">Vincenzo Bonifati</name><name sortKey="Bonnet, Anne Marie" sort="Bonnet, Anne Marie" uniqKey="Bonnet A" first="Anne-Marie" last="Bonnet">Anne-Marie Bonnet</name><name sortKey="Broussolle, Emmanuel" sort="Broussolle, Emmanuel" uniqKey="Broussolle E" first="Emmanuel" last="Broussolle">Emmanuel Broussolle</name><name sortKey="De Mari, Michele" sort="De Mari, Michele" uniqKey="De Mari M" first="Michele" last="De Mari">Michele De Mari</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="Durr, Alexandra" sort="Durr, Alexandra" uniqKey="Durr A" first="Alexandra" last="Dürr">Alexandra Dürr</name><name sortKey="Filla, Allessandro" sort="Filla, Allessandro" uniqKey="Filla A" first="Allessandro" last="Filla">Allessandro Filla</name><name sortKey="Meco, Giuseppe" sort="Meco, Giuseppe" uniqKey="Meco G" first="Giuseppe" last="Meco">Giuseppe Meco</name><name sortKey="Medjbeur, Soraya" sort="Medjbeur, Soraya" uniqKey="Medjbeur S" first="Soraya" last="Medjbeur">Soraya Medjbeur</name><name sortKey="Tassin, Johann" sort="Tassin, Johann" uniqKey="Tassin J" first="Johann" last="Tassin">Johann Tassin</name><name sortKey="Vidailhet, Marie" sort="Vidailhet, Marie" uniqKey="Vidailhet M" first="Marie" last="Vidailhet">Marie Vidailhet</name></noCountry><country name="France"><region name="Île-de-France"><name sortKey="De Broucker, Thomas" sort="De Broucker, Thomas" uniqKey="De Broucker T" first="Thomas" last="De Broucker">Thomas De Broucker</name></region><name sortKey="Agid, Yves" sort="Agid, Yves" uniqKey="Agid Y" first="Yves" last="Agid">Yves Agid</name><name sortKey="Brice, Alexis" sort="Brice, Alexis" uniqKey="Brice A" first="Alexis" last="Brice">Alexis Brice</name><name sortKey="Pollak, Pierre" sort="Pollak, Pierre" uniqKey="Pollak P" first="Pierre" last="Pollak">Pierre Pollak</name></country><country name="Italie"><noRegion><name sortKey="Marconi, Roberto" sort="Marconi, Roberto" uniqKey="Marconi R" first="Roberto" last="Marconi">Roberto Marconi</name></noRegion></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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