Spastic paraplegia 15: Linkage and clinical description of three Tunisian families
Identifieur interne : 003207 ( Main/Merge ); précédent : 003206; suivant : 003208Spastic paraplegia 15: Linkage and clinical description of three Tunisian families
Auteurs : Amir Boukhris [Tunisie, France] ; Imed Feki [Tunisie] ; Elodie Denis [France] ; Mohamed Imed Miladi [Tunisie] ; Alexis Brice [France] ; Chokri Mhiri [Tunisie] ; Giovanni Stevanin [France]Source :
- Movement Disorders [ 0885-3185 ] ; 2008-02-15.
Descripteurs français
- Wicri :
- geographic : Tunisie.
English descriptors
- KwdEn :
- MESH :
- geographic , epidemiology : Tunisia.
- genetics : Chromosomes, Human, Pair 14, Paraplegia.
- physiopathology : Paraplegia.
- Family Health, Genetic Linkage, Humans, Lod Score, Magnetic Resonance Imaging.
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. © 2007 Movement Disorder Society
Url:
- https://api.istex.fr/document/5B8D511B4C6488A3015F71A76CF6B3FE5712BAED/fulltext/pdf
- https://hal.archives-ouvertes.fr/hal-00281719
DOI: 10.1002/mds.21848
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ISTEX:5B8D511B4C6488A3015F71A76CF6B3FE5712BAEDLe document en format XML
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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. 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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><country>France</country></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><ISTEX><TEI wicri:istexFullTextTei="biblStruct"><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></author><author><name sortKey="Feki, Imed" sort="Feki, Imed" uniqKey="Feki I" first="Imed" last="Feki">Imed Feki</name></author><author><name sortKey="Denis, Elodie" sort="Denis, Elodie" uniqKey="Denis E" first="Elodie" last="Denis">Elodie Denis</name></author><author><name sortKey="Miladi, Mohamed Imed" sort="Miladi, Mohamed Imed" uniqKey="Miladi M" first="Mohamed Imed" last="Miladi">Mohamed Imed Miladi</name></author><author><name sortKey="Brice, Alexis" sort="Brice, Alexis" uniqKey="Brice A" first="Alexis" last="Brice">Alexis Brice</name></author><author><name sortKey="Mhiri, Chokri" sort="Mhiri, Chokri" uniqKey="Mhiri C" first="Chokri" last="Mhiri">Chokri Mhiri</name></author><author><name sortKey="Stevanin, Giovanni" sort="Stevanin, Giovanni" uniqKey="Stevanin G" first="Giovanni" last="Stevanin">Giovanni Stevanin</name></author></titleStmt><publicationStmt><idno type="wicri:source">ISTEX</idno><idno type="RBID">ISTEX:5B8D511B4C6488A3015F71A76CF6B3FE5712BAED</idno><date when="2008" year="2008">2008</date><idno type="doi">10.1002/mds.21848</idno><idno type="url">https://api.istex.fr/document/5B8D511B4C6488A3015F71A76CF6B3FE5712BAED/fulltext/pdf</idno><idno type="wicri:Area/Istex/Corpus">002E27</idno><idno type="wicri:Area/Istex/Curation">002E27</idno><idno type="wicri:Area/Istex/Checkpoint">001185</idno><idno type="wicri:doubleKey">0885-3185:2008:Boukhris A:spastic:paraplegia:linkage</idno></publicationStmt><sourceDesc><biblStruct><analytic><title level="a" type="main" 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 wicri:level="1"><country xml:lang="fr">Tunisie</country><wicri:regionArea>Department of Neurology, Habib Bourguiba University Hospital, Sfax</wicri:regionArea><wicri:noRegion>Sfax</wicri:noRegion></affiliation><affiliation wicri:level="1"><country xml:lang="fr">Tunisie</country><wicri:regionArea>Faculté de Médecine de Sfax</wicri:regionArea></affiliation><affiliation wicri:level="1"><country xml:lang="fr">France</country><wicri:regionArea>INSERM, U679, Paris</wicri:regionArea><placeName><settlement type="city">Paris</settlement></placeName></affiliation><affiliation wicri:level="1"><country xml:lang="fr">France</country><wicri:regionArea>Pierre and Marie Curie – Paris 6 University, UMR S679, Federative Institute for Neuroscience Research (IFR70), Pitié‐Salpêtrière Hospital, Paris</wicri:regionArea><placeName><settlement type="city">Paris</settlement></placeName></affiliation><affiliation wicri:level="1"><country xml:lang="fr">France</country><wicri:regionArea>Department of Genetics and Cytogenetics, Pitié‐Salpêtrière Hospital, AP‐HP, Paris</wicri:regionArea><placeName><settlement type="city">Paris</settlement></placeName></affiliation></author><author><name sortKey="Feki, Imed" sort="Feki, Imed" uniqKey="Feki I" first="Imed" last="Feki">Imed Feki</name><affiliation wicri:level="1"><country xml:lang="fr">Tunisie</country><wicri:regionArea>Department of Neurology, Habib Bourguiba University Hospital, Sfax</wicri:regionArea><wicri:noRegion>Sfax</wicri:noRegion></affiliation><affiliation wicri:level="1"><country xml:lang="fr">Tunisie</country><wicri:regionArea>Faculté de Médecine de Sfax</wicri:regionArea></affiliation></author><author><name sortKey="Denis, Elodie" sort="Denis, Elodie" uniqKey="Denis E" first="Elodie" last="Denis">Elodie Denis</name><affiliation wicri:level="1"><country xml:lang="fr">France</country><wicri:regionArea>INSERM, U679, Paris</wicri:regionArea><placeName><settlement type="city">Paris</settlement></placeName></affiliation><affiliation wicri:level="1"><country xml:lang="fr">France</country><wicri:regionArea>Pierre and Marie Curie – Paris 6 University, UMR S679, Federative Institute for Neuroscience Research (IFR70), Pitié‐Salpêtrière Hospital, Paris</wicri:regionArea><placeName><settlement type="city">Paris</settlement></placeName></affiliation><affiliation wicri:level="1"><country xml:lang="fr">France</country><wicri:regionArea>Department of Genetics and Cytogenetics, Pitié‐Salpêtrière Hospital, AP‐HP, Paris</wicri:regionArea><placeName><settlement type="city">Paris</settlement></placeName></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 wicri:level="1"><country xml:lang="fr">Tunisie</country><wicri:regionArea>Department of Neurology, Habib Bourguiba University Hospital, Sfax</wicri:regionArea><wicri:noRegion>Sfax</wicri:noRegion></affiliation><affiliation wicri:level="1"><country xml:lang="fr">Tunisie</country><wicri:regionArea>Faculté de Médecine de Sfax</wicri:regionArea></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 xml:lang="fr">France</country><wicri:regionArea>INSERM, U679, Paris</wicri:regionArea><placeName><settlement type="city">Paris</settlement></placeName></affiliation><affiliation wicri:level="1"><country xml:lang="fr">France</country><wicri:regionArea>Pierre and Marie Curie – Paris 6 University, UMR S679, Federative Institute for Neuroscience Research (IFR70), Pitié‐Salpêtrière Hospital, Paris</wicri:regionArea><placeName><settlement type="city">Paris</settlement></placeName></affiliation><affiliation wicri:level="1"><country xml:lang="fr">France</country><wicri:regionArea>Department of Genetics and Cytogenetics, Pitié‐Salpêtrière Hospital, AP‐HP, Paris</wicri:regionArea><placeName><settlement type="city">Paris</settlement></placeName></affiliation></author><author><name sortKey="Mhiri, Chokri" sort="Mhiri, Chokri" uniqKey="Mhiri C" first="Chokri" last="Mhiri">Chokri Mhiri</name><affiliation wicri:level="1"><country xml:lang="fr">Tunisie</country><wicri:regionArea>Department of Neurology, Habib Bourguiba University Hospital, Sfax</wicri:regionArea><wicri:noRegion>Sfax</wicri:noRegion></affiliation><affiliation wicri:level="1"><country xml:lang="fr">Tunisie</country><wicri:regionArea>Faculté de Médecine de Sfax</wicri:regionArea></affiliation></author><author><name sortKey="Stevanin, Giovanni" sort="Stevanin, Giovanni" uniqKey="Stevanin G" first="Giovanni" last="Stevanin">Giovanni Stevanin</name><affiliation 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Disord.</title><idno type="ISSN">0885-3185</idno><idno type="eISSN">1531-8257</idno><imprint><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>Hoboken</pubPlace><date type="published" when="2008-02-15">2008-02-15</date><biblScope unit="vol">23</biblScope><biblScope unit="issue">3</biblScope><biblScope unit="page" from="429">429</biblScope><biblScope unit="page" to="433">433</biblScope></imprint><idno type="ISSN">0885-3185</idno></series><idno type="istex">5B8D511B4C6488A3015F71A76CF6B3FE5712BAED</idno><idno type="DOI">10.1002/mds.21848</idno><idno type="ArticleID">MDS21848</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0885-3185</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>14q22–q24</term><term>Kjellin's syndrome</term><term>SPG15</term><term>hereditary spastic paraplegia</term><term>linkage</term><term>thin corpus callosum</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></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. © 2007 Movement Disorder Society</div></front></TEI></ISTEX><PubMed><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 wicri:level="1"><nlm:affiliation>Department of Neurology, Habib Bourguiba University Hospital, Sfax, Tunisia.</nlm:affiliation><country xml:lang="fr">Tunisie</country><wicri:regionArea>Department of Neurology, Habib Bourguiba University Hospital, Sfax</wicri:regionArea><wicri:noRegion>Sfax</wicri:noRegion></affiliation></author><author><name sortKey="Feki, Imed" sort="Feki, Imed" uniqKey="Feki I" first="Imed" last="Feki">Imed Feki</name></author><author><name sortKey="Denis, Elodie" sort="Denis, Elodie" uniqKey="Denis E" first="Elodie" last="Denis">Elodie Denis</name></author><author><name sortKey="Miladi, Mohamed Imed" sort="Miladi, Mohamed Imed" uniqKey="Miladi M" first="Mohamed Imed" last="Miladi">Mohamed Imed Miladi</name></author><author><name sortKey="Brice, Alexis" sort="Brice, Alexis" uniqKey="Brice A" first="Alexis" last="Brice">Alexis Brice</name></author><author><name sortKey="Mhiri, Chokri" sort="Mhiri, Chokri" uniqKey="Mhiri C" first="Chokri" last="Mhiri">Chokri Mhiri</name></author><author><name sortKey="Stevanin, Giovanni" sort="Stevanin, Giovanni" uniqKey="Stevanin G" first="Giovanni" last="Stevanin">Giovanni Stevanin</name></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2008">2008</date><idno type="doi">10.1002/mds.21848</idno><idno type="RBID">pubmed:18098276</idno><idno type="pmid">18098276</idno><idno type="wicri:Area/PubMed/Corpus">002378</idno><idno type="wicri:Area/PubMed/Curation">002378</idno><idno type="wicri:Area/PubMed/Checkpoint">002084</idno><idno type="wicri:Area/Ncbi/Merge">001F81</idno><idno type="wicri:Area/Ncbi/Curation">001F81</idno><idno type="wicri:Area/Ncbi/Checkpoint">001F81</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 wicri:level="1"><nlm:affiliation>Department of Neurology, Habib Bourguiba University Hospital, Sfax, Tunisia.</nlm:affiliation><country xml:lang="fr">Tunisie</country><wicri:regionArea>Department of Neurology, Habib Bourguiba University Hospital, Sfax</wicri:regionArea><wicri:noRegion>Sfax</wicri:noRegion></affiliation></author><author><name sortKey="Feki, Imed" sort="Feki, Imed" uniqKey="Feki I" first="Imed" last="Feki">Imed Feki</name></author><author><name sortKey="Denis, Elodie" sort="Denis, Elodie" uniqKey="Denis E" first="Elodie" last="Denis">Elodie Denis</name></author><author><name sortKey="Miladi, Mohamed Imed" sort="Miladi, Mohamed Imed" uniqKey="Miladi M" first="Mohamed Imed" last="Miladi">Mohamed Imed Miladi</name></author><author><name sortKey="Brice, Alexis" sort="Brice, Alexis" uniqKey="Brice A" first="Alexis" last="Brice">Alexis Brice</name></author><author><name sortKey="Mhiri, Chokri" sort="Mhiri, Chokri" uniqKey="Mhiri C" first="Chokri" last="Mhiri">Chokri Mhiri</name></author><author><name sortKey="Stevanin, Giovanni" sort="Stevanin, Giovanni" uniqKey="Stevanin G" first="Giovanni" last="Stevanin">Giovanni Stevanin</name></author></analytic><series><title level="j">Movement disorders : official journal of the Movement Disorder Society</title><idno type="eISSN">1531-8257</idno><imprint><date when="2008" type="published">2008</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Chromosomes, Human, Pair 14 (genetics)</term><term>Family Health</term><term>Genetic Linkage</term><term>Humans</term><term>Lod Score</term><term>Magnetic Resonance Imaging</term><term>Paraplegia (genetics)</term><term>Paraplegia (physiopathology)</term><term>Tunisia (epidemiology)</term></keywords><keywords scheme="MESH" type="geographic" qualifier="epidemiology" xml:lang="en"><term>Tunisia</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Chromosomes, Human, Pair 14</term><term>Paraplegia</term></keywords><keywords scheme="MESH" qualifier="physiopathology" xml:lang="en"><term>Paraplegia</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Family Health</term><term>Genetic Linkage</term><term>Humans</term><term>Lod Score</term><term>Magnetic Resonance Imaging</term></keywords><keywords scheme="Wicri" type="geographic" xml:lang="fr"><term>Tunisie</term></keywords></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></PubMed></double></record>Pour manipuler ce document sous Unix (Dilib)
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