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 : 001A98 ( Main/Curation ); précédent : 001A97; suivant : 001A99Chromosome 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 ; Alexis Brice [France]Source :
- The American Journal of Human Genetics [ 0002-9297 ] ; 1998.
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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.
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DOI: 10.1086/301934
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Johann Tassin<affiliation><mods:affiliation>INSERM U289, Hôpital de la Salpêtrière, Paris;</mods:affiliation><wicri:noCountry code="subField">Paris;</wicri:noCountry></affiliation><affiliation><mods:affiliation>INSERM U289, Hôpital de la Salpêtrière, Paris;</mods:affiliation><wicri:noCountry code="subField">Paris;</wicri:noCountry></affiliation><affiliation><mods:affiliation>INSERM U289, Hôpital de la Salpêtrière, Paris;</mods:affiliation><wicri:noCountry code="subField">Paris;</wicri:noCountry></affiliation><affiliation><mods:affiliation>Dipartimento di Scienze Neurologiche, Università “La Sapienza,” Rome;</mods:affiliation><wicri:noCountry code="subField">” Rome;</wicri:noCountry></affiliation><affiliation><mods:affiliation>Dipartimento di Scienze Neurologiche, Università Federico II, Naples;</mods:affiliation><wicri:noCountry code="subField">Naples;</wicri:noCountry></affiliation><affiliation><mods:affiliation>INSERM U289, Hôpital de la Salpêtrière, Paris;</mods:affiliation><wicri:noCountry code="subField">Paris;</wicri:noCountry></affiliation><affiliation><mods:affiliation>Hôpital Neurologique, Lyon;</mods:affiliation><wicri:noCountry code="subField">Lyon;</wicri:noCountry></affiliation><affiliation><mods:affiliation>INSERM U289, Hôpital de la Salpêtrière, Paris;</mods:affiliation><wicri:noCountry code="subField">Paris;</wicri:noCountry></affiliation><affiliation><mods:affiliation>Institute of Neurology, University of Bari, Bari, Italy; and</mods:affiliation><wicri:noCountry code="subField">Italy; and</wicri:noCountry></affiliation><affiliation><mods:affiliation>INSERM U289, Hôpital de la Salpêtrière, Paris;</mods:affiliation><wicri:noCountry code="subField">Paris;</wicri:noCountry></affiliation><affiliation><mods:affiliation>Dipartimento di Scienze Neurologiche, Università Federico II, Naples;</mods:affiliation><wicri:noCountry code="subField">Naples;</wicri:noCountry></affiliation><affiliation><mods:affiliation>Dipartimento di Scienze Neurologiche, Università “La Sapienza,” Rome;</mods:affiliation><wicri:noCountry code="subField">” Rome;</wicri:noCountry></affiliation><affiliation><mods:affiliation>INSERM U289, Hôpital de la Salpêtrière, Paris;</mods:affiliation><wicri:noCountry code="subField">Paris;</wicri:noCountry></affiliation><affiliation><mods:affiliation>INSERM U289, Hôpital de la Salpêtrière, Paris;</mods:affiliation><wicri:noCountry code="subField">Paris;</wicri:noCountry></affiliation>Le document en format XML
<record><TEI wicri:istexFullTextTei="biblStruct"><teiHeader><fileDesc><titleStmt><title 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><mods:affiliation>INSERM U289, Hôpital de la Salpêtrière, Paris;</mods: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><mods:affiliation>INSERM U289, Hôpital de la Salpêtrière, Paris;</mods: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"><mods:affiliation>Service de Neurologie, Hôpital Casanova, Saint Denis, France;</mods:affiliation><country xml:lang="fr" wicri:curation="lc">France</country><wicri:regionArea>Service de Neurologie, Hôpital Casanova, Saint Denis</wicri:regionArea></affiliation></author><author><name sortKey="Abbas, Nacer" sort="Abbas, Nacer" uniqKey="Abbas N" first="Nacer" last="Abbas">Nacer Abbas</name><affiliation><mods:affiliation>INSERM U289, Hôpital de la Salpêtrière, Paris;</mods: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><mods:affiliation>Dipartimento di Scienze Neurologiche, Università “La Sapienza,” Rome;</mods: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><mods:affiliation>Dipartimento di Scienze Neurologiche, Università Federico II, Naples;</mods: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><mods:affiliation>INSERM U289, Hôpital de la Salpêtrière, Paris;</mods: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><mods:affiliation>Hôpital Neurologique, Lyon;</mods: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"><mods:affiliation>Centre Hospitalier Régional, Grenoble, France;</mods:affiliation><country xml:lang="fr" wicri:curation="lc">France</country><wicri:regionArea>Centre Hospitalier Régional, Grenoble</wicri:regionArea></affiliation></author><author><name sortKey="Vidailhet, Marie" sort="Vidailhet, Marie" uniqKey="Vidailhet M" first="Marie" last="Vidailhet">Marie Vidailhet</name><affiliation><mods:affiliation>INSERM U289, Hôpital de la Salpêtrière, Paris;</mods: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><mods:affiliation>Institute of Neurology, University of Bari, Bari, Italy; and</mods: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"><mods:affiliation>Divisione di Neurologia, Ospedale Misericordia, Grosseto, Italy</mods:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Divisione di Neurologia, Ospedale Misericordia, Grosseto</wicri:regionArea></affiliation></author><author><name sortKey="Medjbeur, Soraya" sort="Medjbeur, Soraya" uniqKey="Medjbeur S" first="Soraya" last="Medjbeur">Soraya Medjbeur</name><affiliation><mods:affiliation>INSERM U289, Hôpital de la Salpêtrière, Paris;</mods: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><mods:affiliation>Dipartimento di Scienze Neurologiche, Università Federico II, Naples;</mods: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><mods:affiliation>Dipartimento di Scienze Neurologiche, Università “La Sapienza,” Rome;</mods: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><mods:affiliation>INSERM U289, Hôpital de la Salpêtrière, Paris;</mods:affiliation><wicri:noCountry code="subField">Paris;</wicri:noCountry></affiliation></author><author><name sortKey="Brice, Alexis" sort="Brice, Alexis" uniqKey="Brice A" first="Alexis" last="Brice">Alexis Brice</name><affiliation wicri:level="1"><mods:affiliation>E-mail: brice@moka.ccr.jussieu.fr</mods:affiliation><country wicri:rule="url">France</country></affiliation><affiliation><mods:affiliation>INSERM U289, Hôpital de la Salpêtrière, Paris;</mods:affiliation><wicri:noCountry code="subField">Paris;</wicri:noCountry></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">ISTEX</idno><idno type="RBID">ISTEX:3F3B23B2DB119A46A75D7E33031F885BB4BF24FC</idno><date when="1998" year="1998">1998</date><idno type="doi">10.1086/301934</idno><idno type="url">https://api.istex.fr/document/3F3B23B2DB119A46A75D7E33031F885BB4BF24FC/fulltext/pdf</idno><idno type="wicri:Area/Main/Corpus">001D79</idno><idno type="wicri:Area/Main/Curation">001A98</idno></publicationStmt><sourceDesc><biblStruct><analytic><title 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><mods:affiliation>INSERM U289, Hôpital de la Salpêtrière, Paris;</mods: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><mods:affiliation>INSERM U289, Hôpital de la Salpêtrière, Paris;</mods: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"><mods:affiliation>Service de Neurologie, Hôpital Casanova, Saint Denis, France;</mods:affiliation><country xml:lang="fr" wicri:curation="lc">France</country><wicri:regionArea>Service de Neurologie, Hôpital Casanova, Saint Denis</wicri:regionArea></affiliation></author><author><name sortKey="Abbas, Nacer" sort="Abbas, Nacer" uniqKey="Abbas N" first="Nacer" last="Abbas">Nacer Abbas</name><affiliation><mods:affiliation>INSERM U289, Hôpital de la Salpêtrière, Paris;</mods: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><mods:affiliation>Dipartimento di Scienze Neurologiche, Università “La Sapienza,” Rome;</mods: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><mods:affiliation>Dipartimento di Scienze Neurologiche, Università Federico II, Naples;</mods: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><mods:affiliation>INSERM U289, Hôpital de la Salpêtrière, Paris;</mods: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><mods:affiliation>Hôpital Neurologique, Lyon;</mods: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"><mods:affiliation>Centre Hospitalier Régional, Grenoble, France;</mods:affiliation><country xml:lang="fr" wicri:curation="lc">France</country><wicri:regionArea>Centre Hospitalier Régional, Grenoble</wicri:regionArea></affiliation></author><author><name sortKey="Vidailhet, Marie" sort="Vidailhet, Marie" uniqKey="Vidailhet M" first="Marie" last="Vidailhet">Marie Vidailhet</name><affiliation><mods:affiliation>INSERM U289, Hôpital de la Salpêtrière, Paris;</mods: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><mods:affiliation>Institute of Neurology, University of Bari, Bari, Italy; and</mods: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"><mods:affiliation>Divisione di Neurologia, Ospedale Misericordia, Grosseto, Italy</mods:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Divisione di Neurologia, Ospedale Misericordia, Grosseto</wicri:regionArea></affiliation></author><author><name sortKey="Medjbeur, Soraya" sort="Medjbeur, Soraya" uniqKey="Medjbeur S" first="Soraya" last="Medjbeur">Soraya Medjbeur</name><affiliation><mods:affiliation>INSERM U289, Hôpital de la Salpêtrière, Paris;</mods: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><mods:affiliation>Dipartimento di Scienze Neurologiche, Università Federico II, Naples;</mods: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><mods:affiliation>Dipartimento di Scienze Neurologiche, Università “La Sapienza,” Rome;</mods: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><mods:affiliation>INSERM U289, Hôpital de la Salpêtrière, Paris;</mods:affiliation><wicri:noCountry code="subField">Paris;</wicri:noCountry></affiliation></author><author><name sortKey="Brice, Alexis" sort="Brice, Alexis" uniqKey="Brice A" first="Alexis" last="Brice">Alexis Brice</name><affiliation wicri:level="1"><mods:affiliation>E-mail: brice@moka.ccr.jussieu.fr</mods:affiliation><country wicri:rule="url">France</country></affiliation><affiliation><mods:affiliation>INSERM U289, Hôpital de la Salpêtrière, Paris;</mods: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></record>Pour manipuler ce document sous Unix (Dilib)
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