Spastic paraplegia 15: linkage and clinical description of three Tunisian families.
Identifieur interne : 000058 ( Hal/Corpus ); précédent : 000057; suivant : 000059Spastic paraplegia 15: linkage and clinical description of three Tunisian families.
Auteurs : Amir Boukhris ; Imed Feki ; Elodie Denis ; Mohamed Imed Miladi ; Alexis Brice ; Chokri Mhiri ; Giovanni StevaninSource :
- Movement Disorders [ 0885-3185 ] ; 2008-02-15.
Abstract
Hereditary spastic paraplegias (HSP) are a clinically and genetically heterogeneous group of neurodegenerative disorders characterized by slowly progressive spasticity of the lower limbs. The locus designated spastic paraplegia 15 (SPG15), located in a 16-Mb interval on chromosome 14q, is associated with a rare autosomal recessive complicated form of HSP known as Kjellin's syndrome. In this study, we describe three additional families, of Tunisian origin, linked to the SPG15 locus, one of which had a significant multipoint LOD score of 3.46. In accordance with previous reports, the phenotype of our patients consisted of early onset spastic paraparesis associated with mental impairment and severe progression. Retinal degeneration was not observed, however, but we extended the phenotype of this form to include peripheral neuropathy and white matter abnormalities on MRI. Interestingly, like retinal degeneration, thin corpus callosum is not a constant feature in this entity.
Url:
DOI: 10.1002/mds.21848
Links to Exploration step
Hal:hal-00281719Le document en format XML
<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Spastic paraplegia 15: linkage and clinical description of three Tunisian families.</title><author><name sortKey="Boukhris, Amir" sort="Boukhris, Amir" uniqKey="Boukhris A" first="Amir" last="Boukhris">Amir Boukhris</name><affiliation><hal:affiliation type="laboratory" xml:id="struct-3037" status="VALID"><orgName>Neurologie et thérapeutique expérimentale</orgName><desc><address><addrLine>GH Pitié-Salpetrière 47, Boulevard de L'Hopital 75651 PARIS CEDEX 13</addrLine><country key="FR"></country></address><ref type="url">http://www.u289.ifrns.chups.jussieu.fr/</ref></desc><listRelation><relation active="#struct-93591" type="direct"></relation><relation name="U679" active="#struct-300002" type="direct"></relation><relation active="#struct-300636" type="direct"></relation></listRelation><tutelles><tutelle active="#struct-93591" type="direct"><org type="institution" xml:id="struct-93591" status="VALID"><orgName>Université Pierre et Marie Curie - Paris 6</orgName><orgName type="acronym">UPMC</orgName><desc><address><addrLine>4 place Jussieu - 75005 Paris</addrLine><country key="FR"></country></address><ref type="url">http://www.upmc.fr/</ref></desc></org></tutelle><tutelle name="U679" active="#struct-300002" type="direct"><org type="institution" xml:id="struct-300002" status="VALID"><orgName>INSERM</orgName><desc><address><country key="FR"></country></address></desc></org></tutelle><tutelle active="#struct-300636" type="direct"><org type="institution" xml:id="struct-300636" status="VALID"><orgName>IFR70</orgName><desc><address><country key="FR"></country></address></desc></org></tutelle></tutelles></hal:affiliation></affiliation></author><author><name sortKey="Feki, Imed" sort="Feki, Imed" uniqKey="Feki I" first="Imed" last="Feki">Imed Feki</name><affiliation><hal:affiliation type="laboratory" xml:id="struct-58110" status="INCOMING"><orgName>Department of neurology</orgName><desc><address><country key="TN"></country></address></desc><listRelation><relation active="#struct-313652" type="direct"></relation></listRelation><tutelles><tutelle active="#struct-313652" type="direct"><org type="institution" xml:id="struct-313652" status="INCOMING"><orgName>Habib Bourguiba university hospital</orgName><desc><address><country key="FR"></country></address></desc></org></tutelle></tutelles></hal:affiliation></affiliation></author><author><name sortKey="Denis, Elodie" sort="Denis, Elodie" uniqKey="Denis E" first="Elodie" last="Denis">Elodie Denis</name><affiliation><hal:affiliation type="laboratory" xml:id="struct-16845" status="VALID"><orgName>Département de Génétique Cytogénétique et Embryologie</orgName><desc><address><addrLine>47-83, boulevard de l'Hôpital 75651 PARIS Cedex 13</addrLine><country key="FR"></country></address></desc><listRelation><relation active="#struct-300068" type="direct"></relation><relation active="#struct-300887" type="direct"></relation><relation active="#struct-93591" type="direct"></relation></listRelation><tutelles><tutelle active="#struct-300068" type="direct"><org type="institution" xml:id="struct-300068" status="VALID"><orgName>Assistance publique - Hôpitaux de Paris (AP-HP)</orgName><desc><address><country key="FR"></country></address></desc></org></tutelle><tutelle active="#struct-300887" type="direct"><org type="institution" xml:id="struct-300887" status="INCOMING"><orgName>Hôpital Pitié-Salpêtrière</orgName><desc><address><country key="FR"></country></address></desc></org></tutelle><tutelle active="#struct-93591" type="direct"><org type="institution" xml:id="struct-93591" status="VALID"><orgName>Université Pierre et Marie Curie - Paris 6</orgName><orgName type="acronym">UPMC</orgName><desc><address><addrLine>4 place Jussieu - 75005 Paris</addrLine><country key="FR"></country></address><ref type="url">http://www.upmc.fr/</ref></desc></org></tutelle></tutelles></hal:affiliation></affiliation></author><author><name sortKey="Miladi, Mohamed Imed" sort="Miladi, Mohamed Imed" uniqKey="Miladi M" first="Mohamed Imed" last="Miladi">Mohamed Imed Miladi</name><affiliation><hal:affiliation type="laboratory" xml:id="struct-58110" status="INCOMING"><orgName>Department of neurology</orgName><desc><address><country key="TN"></country></address></desc><listRelation><relation active="#struct-313652" type="direct"></relation></listRelation><tutelles><tutelle active="#struct-313652" type="direct"><org type="institution" xml:id="struct-313652" status="INCOMING"><orgName>Habib Bourguiba university hospital</orgName><desc><address><country key="FR"></country></address></desc></org></tutelle></tutelles></hal:affiliation></affiliation></author><author><name sortKey="Brice, Alexis" sort="Brice, Alexis" uniqKey="Brice A" first="Alexis" last="Brice">Alexis Brice</name><affiliation><hal:affiliation type="laboratory" xml:id="struct-3037" status="VALID"><orgName>Neurologie et thérapeutique expérimentale</orgName><desc><address><addrLine>GH Pitié-Salpetrière 47, Boulevard de L'Hopital 75651 PARIS CEDEX 13</addrLine><country key="FR"></country></address><ref type="url">http://www.u289.ifrns.chups.jussieu.fr/</ref></desc><listRelation><relation active="#struct-93591" type="direct"></relation><relation name="U679" active="#struct-300002" type="direct"></relation><relation active="#struct-300636" type="direct"></relation></listRelation><tutelles><tutelle active="#struct-93591" type="direct"><org type="institution" xml:id="struct-93591" status="VALID"><orgName>Université Pierre et Marie Curie - Paris 6</orgName><orgName type="acronym">UPMC</orgName><desc><address><addrLine>4 place Jussieu - 75005 Paris</addrLine><country key="FR"></country></address><ref type="url">http://www.upmc.fr/</ref></desc></org></tutelle><tutelle name="U679" active="#struct-300002" type="direct"><org type="institution" xml:id="struct-300002" status="VALID"><orgName>INSERM</orgName><desc><address><country key="FR"></country></address></desc></org></tutelle><tutelle active="#struct-300636" type="direct"><org type="institution" xml:id="struct-300636" status="VALID"><orgName>IFR70</orgName><desc><address><country key="FR"></country></address></desc></org></tutelle></tutelles></hal:affiliation></affiliation></author><author><name sortKey="Mhiri, Chokri" sort="Mhiri, Chokri" uniqKey="Mhiri C" first="Chokri" last="Mhiri">Chokri Mhiri</name><affiliation><hal:affiliation type="laboratory" xml:id="struct-58110" status="INCOMING"><orgName>Department of neurology</orgName><desc><address><country key="TN"></country></address></desc><listRelation><relation active="#struct-313652" type="direct"></relation></listRelation><tutelles><tutelle active="#struct-313652" type="direct"><org type="institution" xml:id="struct-313652" status="INCOMING"><orgName>Habib Bourguiba university hospital</orgName><desc><address><country key="FR"></country></address></desc></org></tutelle></tutelles></hal:affiliation></affiliation></author><author><name sortKey="Stevanin, Giovanni" sort="Stevanin, Giovanni" uniqKey="Stevanin G" first="Giovanni" last="Stevanin">Giovanni Stevanin</name><affiliation><hal:affiliation type="laboratory" xml:id="struct-3037" status="VALID"><orgName>Neurologie et thérapeutique expérimentale</orgName><desc><address><addrLine>GH Pitié-Salpetrière 47, Boulevard de L'Hopital 75651 PARIS CEDEX 13</addrLine><country key="FR"></country></address><ref type="url">http://www.u289.ifrns.chups.jussieu.fr/</ref></desc><listRelation><relation active="#struct-93591" type="direct"></relation><relation name="U679" active="#struct-300002" type="direct"></relation><relation active="#struct-300636" type="direct"></relation></listRelation><tutelles><tutelle active="#struct-93591" type="direct"><org type="institution" xml:id="struct-93591" status="VALID"><orgName>Université Pierre et Marie Curie - Paris 6</orgName><orgName type="acronym">UPMC</orgName><desc><address><addrLine>4 place Jussieu - 75005 Paris</addrLine><country key="FR"></country></address><ref type="url">http://www.upmc.fr/</ref></desc></org></tutelle><tutelle name="U679" active="#struct-300002" type="direct"><org type="institution" xml:id="struct-300002" status="VALID"><orgName>INSERM</orgName><desc><address><country key="FR"></country></address></desc></org></tutelle><tutelle active="#struct-300636" type="direct"><org type="institution" xml:id="struct-300636" status="VALID"><orgName>IFR70</orgName><desc><address><country key="FR"></country></address></desc></org></tutelle></tutelles></hal:affiliation></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">HAL</idno><idno type="RBID">Hal:hal-00281719</idno><idno type="halId">hal-00281719</idno><idno type="halUri">https://hal.archives-ouvertes.fr/hal-00281719</idno><idno type="url">https://hal.archives-ouvertes.fr/hal-00281719</idno><idno type="doi">10.1002/mds.21848</idno><date when="2008-02-15">2008-02-15</date><idno type="wicri:Area/Hal/Corpus">000058</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">Spastic paraplegia 15: linkage and clinical description of three Tunisian families.</title><author><name sortKey="Boukhris, Amir" sort="Boukhris, Amir" uniqKey="Boukhris A" first="Amir" last="Boukhris">Amir Boukhris</name><affiliation><hal:affiliation type="laboratory" xml:id="struct-3037" status="VALID"><orgName>Neurologie et thérapeutique expérimentale</orgName><desc><address><addrLine>GH Pitié-Salpetrière 47, Boulevard de L'Hopital 75651 PARIS CEDEX 13</addrLine><country key="FR"></country></address><ref type="url">http://www.u289.ifrns.chups.jussieu.fr/</ref></desc><listRelation><relation active="#struct-93591" type="direct"></relation><relation name="U679" active="#struct-300002" type="direct"></relation><relation active="#struct-300636" type="direct"></relation></listRelation><tutelles><tutelle active="#struct-93591" type="direct"><org type="institution" xml:id="struct-93591" status="VALID"><orgName>Université Pierre et Marie Curie - Paris 6</orgName><orgName type="acronym">UPMC</orgName><desc><address><addrLine>4 place Jussieu - 75005 Paris</addrLine><country key="FR"></country></address><ref type="url">http://www.upmc.fr/</ref></desc></org></tutelle><tutelle name="U679" active="#struct-300002" type="direct"><org type="institution" xml:id="struct-300002" status="VALID"><orgName>INSERM</orgName><desc><address><country key="FR"></country></address></desc></org></tutelle><tutelle active="#struct-300636" type="direct"><org type="institution" xml:id="struct-300636" status="VALID"><orgName>IFR70</orgName><desc><address><country key="FR"></country></address></desc></org></tutelle></tutelles></hal:affiliation></affiliation></author><author><name sortKey="Feki, Imed" sort="Feki, Imed" uniqKey="Feki I" first="Imed" last="Feki">Imed Feki</name><affiliation><hal:affiliation type="laboratory" xml:id="struct-58110" status="INCOMING"><orgName>Department of neurology</orgName><desc><address><country key="TN"></country></address></desc><listRelation><relation active="#struct-313652" type="direct"></relation></listRelation><tutelles><tutelle active="#struct-313652" type="direct"><org type="institution" xml:id="struct-313652" status="INCOMING"><orgName>Habib Bourguiba university hospital</orgName><desc><address><country key="FR"></country></address></desc></org></tutelle></tutelles></hal:affiliation></affiliation></author><author><name sortKey="Denis, Elodie" sort="Denis, Elodie" uniqKey="Denis E" first="Elodie" last="Denis">Elodie Denis</name><affiliation><hal:affiliation type="laboratory" xml:id="struct-16845" status="VALID"><orgName>Département de Génétique Cytogénétique et Embryologie</orgName><desc><address><addrLine>47-83, boulevard de l'Hôpital 75651 PARIS Cedex 13</addrLine><country key="FR"></country></address></desc><listRelation><relation active="#struct-300068" type="direct"></relation><relation active="#struct-300887" type="direct"></relation><relation active="#struct-93591" type="direct"></relation></listRelation><tutelles><tutelle active="#struct-300068" type="direct"><org type="institution" xml:id="struct-300068" status="VALID"><orgName>Assistance publique - Hôpitaux de Paris (AP-HP)</orgName><desc><address><country key="FR"></country></address></desc></org></tutelle><tutelle active="#struct-300887" type="direct"><org type="institution" xml:id="struct-300887" status="INCOMING"><orgName>Hôpital Pitié-Salpêtrière</orgName><desc><address><country key="FR"></country></address></desc></org></tutelle><tutelle active="#struct-93591" type="direct"><org type="institution" xml:id="struct-93591" status="VALID"><orgName>Université Pierre et Marie Curie - Paris 6</orgName><orgName type="acronym">UPMC</orgName><desc><address><addrLine>4 place Jussieu - 75005 Paris</addrLine><country key="FR"></country></address><ref type="url">http://www.upmc.fr/</ref></desc></org></tutelle></tutelles></hal:affiliation></affiliation></author><author><name sortKey="Miladi, Mohamed Imed" sort="Miladi, Mohamed Imed" uniqKey="Miladi M" first="Mohamed Imed" last="Miladi">Mohamed Imed Miladi</name><affiliation><hal:affiliation type="laboratory" xml:id="struct-58110" status="INCOMING"><orgName>Department of neurology</orgName><desc><address><country key="TN"></country></address></desc><listRelation><relation active="#struct-313652" type="direct"></relation></listRelation><tutelles><tutelle active="#struct-313652" type="direct"><org type="institution" xml:id="struct-313652" status="INCOMING"><orgName>Habib Bourguiba university hospital</orgName><desc><address><country key="FR"></country></address></desc></org></tutelle></tutelles></hal:affiliation></affiliation></author><author><name sortKey="Brice, Alexis" sort="Brice, Alexis" uniqKey="Brice A" first="Alexis" last="Brice">Alexis Brice</name><affiliation><hal:affiliation type="laboratory" xml:id="struct-3037" status="VALID"><orgName>Neurologie et thérapeutique expérimentale</orgName><desc><address><addrLine>GH Pitié-Salpetrière 47, Boulevard de L'Hopital 75651 PARIS CEDEX 13</addrLine><country key="FR"></country></address><ref type="url">http://www.u289.ifrns.chups.jussieu.fr/</ref></desc><listRelation><relation active="#struct-93591" type="direct"></relation><relation name="U679" active="#struct-300002" type="direct"></relation><relation active="#struct-300636" type="direct"></relation></listRelation><tutelles><tutelle active="#struct-93591" type="direct"><org type="institution" xml:id="struct-93591" status="VALID"><orgName>Université Pierre et Marie Curie - Paris 6</orgName><orgName type="acronym">UPMC</orgName><desc><address><addrLine>4 place Jussieu - 75005 Paris</addrLine><country key="FR"></country></address><ref type="url">http://www.upmc.fr/</ref></desc></org></tutelle><tutelle name="U679" active="#struct-300002" type="direct"><org type="institution" xml:id="struct-300002" status="VALID"><orgName>INSERM</orgName><desc><address><country key="FR"></country></address></desc></org></tutelle><tutelle active="#struct-300636" type="direct"><org type="institution" xml:id="struct-300636" status="VALID"><orgName>IFR70</orgName><desc><address><country key="FR"></country></address></desc></org></tutelle></tutelles></hal:affiliation></affiliation></author><author><name sortKey="Mhiri, Chokri" sort="Mhiri, Chokri" uniqKey="Mhiri C" first="Chokri" last="Mhiri">Chokri Mhiri</name><affiliation><hal:affiliation type="laboratory" xml:id="struct-58110" status="INCOMING"><orgName>Department of neurology</orgName><desc><address><country key="TN"></country></address></desc><listRelation><relation active="#struct-313652" type="direct"></relation></listRelation><tutelles><tutelle active="#struct-313652" type="direct"><org type="institution" xml:id="struct-313652" status="INCOMING"><orgName>Habib Bourguiba university hospital</orgName><desc><address><country key="FR"></country></address></desc></org></tutelle></tutelles></hal:affiliation></affiliation></author><author><name sortKey="Stevanin, Giovanni" sort="Stevanin, Giovanni" uniqKey="Stevanin G" first="Giovanni" last="Stevanin">Giovanni Stevanin</name><affiliation><hal:affiliation type="laboratory" xml:id="struct-3037" status="VALID"><orgName>Neurologie et thérapeutique expérimentale</orgName><desc><address><addrLine>GH Pitié-Salpetrière 47, Boulevard de L'Hopital 75651 PARIS CEDEX 13</addrLine><country key="FR"></country></address><ref type="url">http://www.u289.ifrns.chups.jussieu.fr/</ref></desc><listRelation><relation active="#struct-93591" type="direct"></relation><relation name="U679" active="#struct-300002" type="direct"></relation><relation active="#struct-300636" type="direct"></relation></listRelation><tutelles><tutelle active="#struct-93591" type="direct"><org type="institution" xml:id="struct-93591" status="VALID"><orgName>Université Pierre et Marie Curie - Paris 6</orgName><orgName type="acronym">UPMC</orgName><desc><address><addrLine>4 place Jussieu - 75005 Paris</addrLine><country key="FR"></country></address><ref type="url">http://www.upmc.fr/</ref></desc></org></tutelle><tutelle name="U679" active="#struct-300002" type="direct"><org type="institution" xml:id="struct-300002" status="VALID"><orgName>INSERM</orgName><desc><address><country key="FR"></country></address></desc></org></tutelle><tutelle active="#struct-300636" type="direct"><org type="institution" xml:id="struct-300636" status="VALID"><orgName>IFR70</orgName><desc><address><country key="FR"></country></address></desc></org></tutelle></tutelles></hal:affiliation></affiliation></author></analytic><idno type="DOI">10.1002/mds.21848</idno><series><title level="j">Movement Disorders</title><idno type="ISSN">0885-3185</idno><imprint><date type="datePub">2008-02-15</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Hereditary spastic paraplegias (HSP) are a clinically and genetically heterogeneous group of neurodegenerative disorders characterized by slowly progressive spasticity of the lower limbs. The locus designated spastic paraplegia 15 (SPG15), located in a 16-Mb interval on chromosome 14q, is associated with a rare autosomal recessive complicated form of HSP known as Kjellin's syndrome. In this study, we describe three additional families, of Tunisian origin, linked to the SPG15 locus, one of which had a significant multipoint LOD score of 3.46. In accordance with previous reports, the phenotype of our patients consisted of early onset spastic paraparesis associated with mental impairment and severe progression. Retinal degeneration was not observed, however, but we extended the phenotype of this form to include peripheral neuropathy and white matter abnormalities on MRI. Interestingly, like retinal degeneration, thin corpus callosum is not a constant feature in this entity.</div></front></TEI><hal api="V3"><titleStmt><title xml:lang="en">Spastic paraplegia 15: linkage and clinical description of three Tunisian families.</title><author role="aut"><persName><forename type="first">Amir</forename><surname>Boukhris</surname></persName><email></email><idno type="halauthor">304728</idno><affiliation ref="#struct-3037"></affiliation><affiliation ref="#struct-58110"></affiliation></author><author role="aut"><persName><forename type="first">Imed</forename><surname>Feki</surname></persName><email></email><idno type="halauthor">304730</idno><affiliation ref="#struct-58110"></affiliation></author><author role="aut"><persName><forename type="first">Elodie</forename><surname>Denis</surname></persName><email></email><idno type="halauthor">304731</idno><affiliation ref="#struct-16845"></affiliation></author><author role="aut"><persName><forename type="first">Mohamed Imed</forename><surname>Miladi</surname></persName><email></email><idno type="halauthor">304732</idno><affiliation ref="#struct-58110"></affiliation></author><author role="aut"><persName><forename type="first">Alexis</forename><surname>Brice</surname></persName><email></email><idno type="halauthor">183596</idno><affiliation ref="#struct-3037"></affiliation><affiliation ref="#struct-16845"></affiliation><affiliation ref="#struct-35918"></affiliation></author><author role="aut"><persName><forename type="first">Chokri</forename><surname>Mhiri</surname></persName><email></email><idno type="halauthor">304736</idno><affiliation ref="#struct-58110"></affiliation></author><author role="aut"><persName><forename type="first">Giovanni</forename><surname>Stevanin</surname></persName><email></email><idno type="halauthor">183597</idno><affiliation ref="#struct-3037"></affiliation><affiliation ref="#struct-16845"></affiliation></author><editor role="depositor"><persName><forename>Alexandra</forename><surname>Durr</surname></persName><email>alexandra.durr@upmc.fr</email></editor><funder ref="#projanr-5816"></funder></titleStmt><editionStmt><edition n="v1" type="current"><date type="whenSubmitted">2008-05-23 17:24:41</date><date type="whenModified">2008-05-26 10:28:40</date><date type="whenReleased">2008-05-23 17:24:41</date><date type="whenProduced">2008-02-15</date></edition><respStmt><resp>contributor</resp><name key="128788"><persName><forename>Alexandra</forename><surname>Durr</surname></persName><email>alexandra.durr@upmc.fr</email></name></respStmt></editionStmt><publicationStmt><distributor>CCSD</distributor><idno type="halId">hal-00281719</idno><idno type="halUri">https://hal.archives-ouvertes.fr/hal-00281719</idno><idno type="halBibtex">boukhris:hal-00281719</idno><idno type="halRefHtml">Movement Disorders, Wiley, 2008, 23 (3), pp.429-33. <10.1002/mds.21848></idno><idno type="halRef">Movement Disorders, Wiley, 2008, 23 (3), pp.429-33. <10.1002/mds.21848></idno></publicationStmt><seriesStmt><idno type="stamp" n="APHP" p="INSERM">AP-HP</idno><idno type="stamp" n="UNIV-PARIS6">Université Pierre et Marie Curie - Paris VI</idno><idno type="stamp" n="UPMC">Université Pierre et Marie Curie</idno></seriesStmt><notesStmt><note type="audience" n="1">Not set</note><note type="popular" n="0">No</note><note type="peer" n="1">Yes</note></notesStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">Spastic paraplegia 15: linkage and clinical description of three Tunisian families.</title><author role="aut"><persName><forename type="first">Amir</forename><surname>Boukhris</surname></persName><idno type="halAuthorId">304728</idno><affiliation ref="#struct-3037"></affiliation><affiliation ref="#struct-58110"></affiliation></author><author role="aut"><persName><forename type="first">Imed</forename><surname>Feki</surname></persName><idno type="halAuthorId">304730</idno><affiliation ref="#struct-58110"></affiliation></author><author role="aut"><persName><forename type="first">Elodie</forename><surname>Denis</surname></persName><idno type="halAuthorId">304731</idno><affiliation ref="#struct-16845"></affiliation></author><author role="aut"><persName><forename type="first">Mohamed Imed</forename><surname>Miladi</surname></persName><idno type="halAuthorId">304732</idno><affiliation ref="#struct-58110"></affiliation></author><author role="aut"><persName><forename type="first">Alexis</forename><surname>Brice</surname></persName><idno type="halAuthorId">183596</idno><affiliation ref="#struct-3037"></affiliation><affiliation ref="#struct-16845"></affiliation><affiliation ref="#struct-35918"></affiliation></author><author role="aut"><persName><forename type="first">Chokri</forename><surname>Mhiri</surname></persName><idno type="halAuthorId">304736</idno><affiliation ref="#struct-58110"></affiliation></author><author role="aut"><persName><forename type="first">Giovanni</forename><surname>Stevanin</surname></persName><idno type="halAuthorId">183597</idno><affiliation ref="#struct-3037"></affiliation><affiliation ref="#struct-16845"></affiliation></author></analytic><monogr><idno type="halJournalId" status="VALID">17211</idno><idno type="issn">0885-3185</idno><idno type="eissn">1531-8257</idno><title level="j">Movement Disorders</title><imprint><publisher>Wiley</publisher><biblScope unit="volume">23</biblScope><biblScope unit="issue">3</biblScope><biblScope unit="pp">429-33</biblScope><date type="datePub">2008-02-15</date></imprint></monogr><idno type="doi">10.1002/mds.21848</idno><idno type="pubmed">18098276</idno></biblStruct></sourceDesc><profileDesc><langUsage><language ident="en">English</language></langUsage><textClass><classCode scheme="mesh">Chromosomes, Human, Pair 14</classCode><classCode scheme="mesh">Family Health</classCode><classCode scheme="mesh">Humans</classCode><classCode scheme="mesh">Linkage (Genetics)</classCode><classCode scheme="mesh">Lod Score</classCode><classCode scheme="mesh">Magnetic Resonance Imaging</classCode><classCode scheme="mesh">Paraplegia</classCode><classCode scheme="mesh">Tunisia</classCode><classCode scheme="halDomain" n="sdv.neu">Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]</classCode><classCode scheme="halTypology" n="ART">Journal articles</classCode></textClass><abstract xml:lang="en">Hereditary spastic paraplegias (HSP) are a clinically and genetically heterogeneous group of neurodegenerative disorders characterized by slowly progressive spasticity of the lower limbs. The locus designated spastic paraplegia 15 (SPG15), located in a 16-Mb interval on chromosome 14q, is associated with a rare autosomal recessive complicated form of HSP known as Kjellin's syndrome. In this study, we describe three additional families, of Tunisian origin, linked to the SPG15 locus, one of which had a significant multipoint LOD score of 3.46. In accordance with previous reports, the phenotype of our patients consisted of early onset spastic paraparesis associated with mental impairment and severe progression. Retinal degeneration was not observed, however, but we extended the phenotype of this form to include peripheral neuropathy and white matter abnormalities on MRI. Interestingly, like retinal degeneration, thin corpus callosum is not a constant feature in this entity.</abstract></profileDesc></hal></record>Pour manipuler ce document sous Unix (Dilib)
EXPLOR_STEP=$WICRI_ROOT/Wicri/Santé/explor/MovDisordV3/Data/Hal/Corpus
HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 000058 | SxmlIndent | more
Ou
HfdSelect -h $EXPLOR_AREA/Data/Hal/Corpus/biblio.hfd -nk 000058 | SxmlIndent | more
Pour mettre un lien sur cette page dans le réseau Wicri
{{Explor lien
|wiki= Wicri/Santé
|area= MovDisordV3
|flux= Hal
|étape= Corpus
|type= RBID
|clé= Hal:hal-00281719
|texte= Spastic paraplegia 15: linkage and clinical description of three Tunisian families.
}}
| This area was generated with Dilib version V0.6.23. |  |