MovDisordV3, PascalFrancis, Checkpoint, bibRecord, 001093

Spastic Paraplegia 15 : Linkage and Clinical Description of Three Tunisian Families

Identifieur interne : 001093 ( PascalFrancis/Checkpoint ); précédent : 001092; suivant : 001094

Spastic 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.

RBID : Pascal:08-0169589

Descripteurs français

Pascal (Inist)
- Paraplégie spasmodique héréditaire de Strümpell-Lorrain, Pathologie du système nerveux, Liaison génétique, Corps calleux.

English descriptors

KwdEn :
- Corpus callosum, Genetic linkage, Hereditary spastic paraplegia, Nervous system diseases.

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 SPGI5 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.

Affiliations:

France, Tunisie
Paris

Links toward previous steps (curation, corpus...)

to stream PascalFrancis, to step Corpus: 001323
to stream PascalFrancis, to step Curation: 001996

Links to Exploration step

Pascal:08-0169589

Le document en format XML

<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en" level="a">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"><inist:fA14 i1="01"><s1>Department of Neurology, Habib Bourguiba University Hospital</s1>
<s2>Sfax</s2>
<s3>TUN</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>6 aut.</sZ>
</inist:fA14>
<country>Tunisie</country>
<wicri:noRegion>Sfax</wicri:noRegion>
</affiliation>
<affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Faculté de Médecine de Sfax</s1>
<s3>TUN</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>6 aut.</sZ>
</inist:fA14>
<country>Tunisie</country>
<wicri:noRegion>Faculté de Médecine de Sfax</wicri:noRegion>
</affiliation>
<affiliation wicri:level="1"><inist:fA14 i1="03"><s1>INSERM, U679</s1>
<s2>Paris</s2>
<s3>FRA</s3>
<sZ>1 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>7 aut.</sZ>
</inist:fA14>
<country>France</country>
<placeName><settlement type="city">Paris</settlement>
</placeName>
</affiliation>
<affiliation wicri:level="1"><inist:fA14 i1="04"><s1>Pierre and Marie Curie -Paris 6 University, UMR S679, Federative Institute for Neuroscience Research (IFR70), Pitié-Salpêtrière Hospital</s1>
<s2>Paris</s2>
<s3>FRA</s3>
<sZ>1 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>7 aut.</sZ>
</inist:fA14>
<country>France</country>
<placeName><settlement type="city">Paris</settlement>
</placeName>
</affiliation>
<affiliation wicri:level="1"><inist:fA14 i1="05"><s1>Department of Genetics and Cytogenetics, Pitié-Salpêtrière Hospital, AP-HP</s1>
<s2>Paris</s2>
<s3>FRA</s3>
<sZ>1 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>7 aut.</sZ>
</inist:fA14>
<country>France</country>
<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"><inist:fA14 i1="01"><s1>Department of Neurology, Habib Bourguiba University Hospital</s1>
<s2>Sfax</s2>
<s3>TUN</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>6 aut.</sZ>
</inist:fA14>
<country>Tunisie</country>
<wicri:noRegion>Sfax</wicri:noRegion>
</affiliation>
<affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Faculté de Médecine de Sfax</s1>
<s3>TUN</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>6 aut.</sZ>
</inist:fA14>
<country>Tunisie</country>
<wicri:noRegion>Faculté de Médecine de Sfax</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Denis, Elodie" sort="Denis, Elodie" uniqKey="Denis E" first="Elodie" last="Denis">Elodie Denis</name>
<affiliation wicri:level="1"><inist:fA14 i1="03"><s1>INSERM, U679</s1>
<s2>Paris</s2>
<s3>FRA</s3>
<sZ>1 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>7 aut.</sZ>
</inist:fA14>
<country>France</country>
<placeName><settlement type="city">Paris</settlement>
</placeName>
</affiliation>
<affiliation wicri:level="1"><inist:fA14 i1="04"><s1>Pierre and Marie Curie -Paris 6 University, UMR S679, Federative Institute for Neuroscience Research (IFR70), Pitié-Salpêtrière Hospital</s1>
<s2>Paris</s2>
<s3>FRA</s3>
<sZ>1 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>7 aut.</sZ>
</inist:fA14>
<country>France</country>
<placeName><settlement type="city">Paris</settlement>
</placeName>
</affiliation>
<affiliation wicri:level="1"><inist:fA14 i1="05"><s1>Department of Genetics and Cytogenetics, Pitié-Salpêtrière Hospital, AP-HP</s1>
<s2>Paris</s2>
<s3>FRA</s3>
<sZ>1 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>7 aut.</sZ>
</inist:fA14>
<country>France</country>
<placeName><settlement type="city">Paris</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Mohamed Imed Miladi" sort="Mohamed Imed Miladi" uniqKey="Mohamed Imed Miladi" last="Mohamed Imed Miladi">MOHAMED IMED MILADI</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Department of Neurology, Habib Bourguiba University Hospital</s1>
<s2>Sfax</s2>
<s3>TUN</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>6 aut.</sZ>
</inist:fA14>
<country>Tunisie</country>
<wicri:noRegion>Sfax</wicri:noRegion>
</affiliation>
<affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Faculté de Médecine de Sfax</s1>
<s3>TUN</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>6 aut.</sZ>
</inist:fA14>
<country>Tunisie</country>
<wicri:noRegion>Faculté de Médecine de Sfax</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Brice, Alexis" sort="Brice, Alexis" uniqKey="Brice A" first="Alexis" last="Brice">Alexis Brice</name>
<affiliation wicri:level="1"><inist:fA14 i1="03"><s1>INSERM, U679</s1>
<s2>Paris</s2>
<s3>FRA</s3>
<sZ>1 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>7 aut.</sZ>
</inist:fA14>
<country>France</country>
<placeName><settlement type="city">Paris</settlement>
</placeName>
</affiliation>
<affiliation wicri:level="1"><inist:fA14 i1="04"><s1>Pierre and Marie Curie -Paris 6 University, UMR S679, Federative Institute for Neuroscience Research (IFR70), Pitié-Salpêtrière Hospital</s1>
<s2>Paris</s2>
<s3>FRA</s3>
<sZ>1 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>7 aut.</sZ>
</inist:fA14>
<country>France</country>
<placeName><settlement type="city">Paris</settlement>
</placeName>
</affiliation>
<affiliation wicri:level="1"><inist:fA14 i1="05"><s1>Department of Genetics and Cytogenetics, Pitié-Salpêtrière Hospital, AP-HP</s1>
<s2>Paris</s2>
<s3>FRA</s3>
<sZ>1 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>7 aut.</sZ>
</inist:fA14>
<country>France</country>
<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"><inist:fA14 i1="01"><s1>Department of Neurology, Habib Bourguiba University Hospital</s1>
<s2>Sfax</s2>
<s3>TUN</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>6 aut.</sZ>
</inist:fA14>
<country>Tunisie</country>
<wicri:noRegion>Sfax</wicri:noRegion>
</affiliation>
<affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Faculté de Médecine de Sfax</s1>
<s3>TUN</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>6 aut.</sZ>
</inist:fA14>
<country>Tunisie</country>
<wicri:noRegion>Faculté de Médecine de Sfax</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Stevanin, Giovanni" sort="Stevanin, Giovanni" uniqKey="Stevanin G" first="Giovanni" last="Stevanin">Giovanni Stevanin</name>
<affiliation wicri:level="1"><inist:fA14 i1="03"><s1>INSERM, U679</s1>
<s2>Paris</s2>
<s3>FRA</s3>
<sZ>1 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>7 aut.</sZ>
</inist:fA14>
<country>France</country>
<placeName><settlement type="city">Paris</settlement>
</placeName>
</affiliation>
<affiliation wicri:level="1"><inist:fA14 i1="04"><s1>Pierre and Marie Curie -Paris 6 University, UMR S679, Federative Institute for Neuroscience Research (IFR70), Pitié-Salpêtrière Hospital</s1>
<s2>Paris</s2>
<s3>FRA</s3>
<sZ>1 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>7 aut.</sZ>
</inist:fA14>
<country>France</country>
<placeName><settlement type="city">Paris</settlement>
</placeName>
</affiliation>
<affiliation wicri:level="1"><inist:fA14 i1="05"><s1>Department of Genetics and Cytogenetics, Pitié-Salpêtrière Hospital, AP-HP</s1>
<s2>Paris</s2>
<s3>FRA</s3>
<sZ>1 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>7 aut.</sZ>
</inist:fA14>
<country>France</country>
<placeName><settlement type="city">Paris</settlement>
</placeName>
</affiliation>
</author>
</titleStmt>
<publicationStmt><idno type="wicri:source">INIST</idno>
<idno type="inist">08-0169589</idno>
<date when="2008">2008</date>
<idno type="stanalyst">PASCAL 08-0169589 INIST</idno>
<idno type="RBID">Pascal:08-0169589</idno>
<idno type="wicri:Area/PascalFrancis/Corpus">001323</idno>
<idno type="wicri:Area/PascalFrancis/Curation">001996</idno>
<idno type="wicri:Area/PascalFrancis/Checkpoint">001093</idno>
</publicationStmt>
<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a">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"><inist:fA14 i1="01"><s1>Department of Neurology, Habib Bourguiba University Hospital</s1>
<s2>Sfax</s2>
<s3>TUN</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>6 aut.</sZ>
</inist:fA14>
<country>Tunisie</country>
<wicri:noRegion>Sfax</wicri:noRegion>
</affiliation>
<affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Faculté de Médecine de Sfax</s1>
<s3>TUN</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>6 aut.</sZ>
</inist:fA14>
<country>Tunisie</country>
<wicri:noRegion>Faculté de Médecine de Sfax</wicri:noRegion>
</affiliation>
<affiliation wicri:level="1"><inist:fA14 i1="03"><s1>INSERM, U679</s1>
<s2>Paris</s2>
<s3>FRA</s3>
<sZ>1 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>7 aut.</sZ>
</inist:fA14>
<country>France</country>
<placeName><settlement type="city">Paris</settlement>
</placeName>
</affiliation>
<affiliation wicri:level="1"><inist:fA14 i1="04"><s1>Pierre and Marie Curie -Paris 6 University, UMR S679, Federative Institute for Neuroscience Research (IFR70), Pitié-Salpêtrière Hospital</s1>
<s2>Paris</s2>
<s3>FRA</s3>
<sZ>1 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>7 aut.</sZ>
</inist:fA14>
<country>France</country>
<placeName><settlement type="city">Paris</settlement>
</placeName>
</affiliation>
<affiliation wicri:level="1"><inist:fA14 i1="05"><s1>Department of Genetics and Cytogenetics, Pitié-Salpêtrière Hospital, AP-HP</s1>
<s2>Paris</s2>
<s3>FRA</s3>
<sZ>1 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>7 aut.</sZ>
</inist:fA14>
<country>France</country>
<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"><inist:fA14 i1="01"><s1>Department of Neurology, Habib Bourguiba University Hospital</s1>
<s2>Sfax</s2>
<s3>TUN</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>6 aut.</sZ>
</inist:fA14>
<country>Tunisie</country>
<wicri:noRegion>Sfax</wicri:noRegion>
</affiliation>
<affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Faculté de Médecine de Sfax</s1>
<s3>TUN</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>6 aut.</sZ>
</inist:fA14>
<country>Tunisie</country>
<wicri:noRegion>Faculté de Médecine de Sfax</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Denis, Elodie" sort="Denis, Elodie" uniqKey="Denis E" first="Elodie" last="Denis">Elodie Denis</name>
<affiliation wicri:level="1"><inist:fA14 i1="03"><s1>INSERM, U679</s1>
<s2>Paris</s2>
<s3>FRA</s3>
<sZ>1 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>7 aut.</sZ>
</inist:fA14>
<country>France</country>
<placeName><settlement type="city">Paris</settlement>
</placeName>
</affiliation>
<affiliation wicri:level="1"><inist:fA14 i1="04"><s1>Pierre and Marie Curie -Paris 6 University, UMR S679, Federative Institute for Neuroscience Research (IFR70), Pitié-Salpêtrière Hospital</s1>
<s2>Paris</s2>
<s3>FRA</s3>
<sZ>1 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>7 aut.</sZ>
</inist:fA14>
<country>France</country>
<placeName><settlement type="city">Paris</settlement>
</placeName>
</affiliation>
<affiliation wicri:level="1"><inist:fA14 i1="05"><s1>Department of Genetics and Cytogenetics, Pitié-Salpêtrière Hospital, AP-HP</s1>
<s2>Paris</s2>
<s3>FRA</s3>
<sZ>1 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>7 aut.</sZ>
</inist:fA14>
<country>France</country>
<placeName><settlement type="city">Paris</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Mohamed Imed Miladi" sort="Mohamed Imed Miladi" uniqKey="Mohamed Imed Miladi" last="Mohamed Imed Miladi">MOHAMED IMED MILADI</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Department of Neurology, Habib Bourguiba University Hospital</s1>
<s2>Sfax</s2>
<s3>TUN</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>6 aut.</sZ>
</inist:fA14>
<country>Tunisie</country>
<wicri:noRegion>Sfax</wicri:noRegion>
</affiliation>
<affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Faculté de Médecine de Sfax</s1>
<s3>TUN</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>6 aut.</sZ>
</inist:fA14>
<country>Tunisie</country>
<wicri:noRegion>Faculté de Médecine de Sfax</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Brice, Alexis" sort="Brice, Alexis" uniqKey="Brice A" first="Alexis" last="Brice">Alexis Brice</name>
<affiliation wicri:level="1"><inist:fA14 i1="03"><s1>INSERM, U679</s1>
<s2>Paris</s2>
<s3>FRA</s3>
<sZ>1 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>7 aut.</sZ>
</inist:fA14>
<country>France</country>
<placeName><settlement type="city">Paris</settlement>
</placeName>
</affiliation>
<affiliation wicri:level="1"><inist:fA14 i1="04"><s1>Pierre and Marie Curie -Paris 6 University, UMR S679, Federative Institute for Neuroscience Research (IFR70), Pitié-Salpêtrière Hospital</s1>
<s2>Paris</s2>
<s3>FRA</s3>
<sZ>1 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>7 aut.</sZ>
</inist:fA14>
<country>France</country>
<placeName><settlement type="city">Paris</settlement>
</placeName>
</affiliation>
<affiliation wicri:level="1"><inist:fA14 i1="05"><s1>Department of Genetics and Cytogenetics, Pitié-Salpêtrière Hospital, AP-HP</s1>
<s2>Paris</s2>
<s3>FRA</s3>
<sZ>1 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>7 aut.</sZ>
</inist:fA14>
<country>France</country>
<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"><inist:fA14 i1="01"><s1>Department of Neurology, Habib Bourguiba University Hospital</s1>
<s2>Sfax</s2>
<s3>TUN</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>6 aut.</sZ>
</inist:fA14>
<country>Tunisie</country>
<wicri:noRegion>Sfax</wicri:noRegion>
</affiliation>
<affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Faculté de Médecine de Sfax</s1>
<s3>TUN</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>6 aut.</sZ>
</inist:fA14>
<country>Tunisie</country>
<wicri:noRegion>Faculté de Médecine de Sfax</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Stevanin, Giovanni" sort="Stevanin, Giovanni" uniqKey="Stevanin G" first="Giovanni" last="Stevanin">Giovanni Stevanin</name>
<affiliation wicri:level="1"><inist:fA14 i1="03"><s1>INSERM, U679</s1>
<s2>Paris</s2>
<s3>FRA</s3>
<sZ>1 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>7 aut.</sZ>
</inist:fA14>
<country>France</country>
<placeName><settlement type="city">Paris</settlement>
</placeName>
</affiliation>
<affiliation wicri:level="1"><inist:fA14 i1="04"><s1>Pierre and Marie Curie -Paris 6 University, UMR S679, Federative Institute for Neuroscience Research (IFR70), Pitié-Salpêtrière Hospital</s1>
<s2>Paris</s2>
<s3>FRA</s3>
<sZ>1 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>7 aut.</sZ>
</inist:fA14>
<country>France</country>
<placeName><settlement type="city">Paris</settlement>
</placeName>
</affiliation>
<affiliation wicri:level="1"><inist:fA14 i1="05"><s1>Department of Genetics and Cytogenetics, Pitié-Salpêtrière Hospital, AP-HP</s1>
<s2>Paris</s2>
<s3>FRA</s3>
<sZ>1 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>7 aut.</sZ>
</inist:fA14>
<country>France</country>
<placeName><settlement type="city">Paris</settlement>
</placeName>
</affiliation>
</author>
</analytic>
<series><title level="j" type="main">Movement disorders</title>
<title level="j" type="abbreviated">Mov. disord.</title>
<idno type="ISSN">0885-3185</idno>
<imprint><date when="2008">2008</date>
</imprint>
</series>
</biblStruct>
</sourceDesc>
<seriesStmt><title level="j" type="main">Movement disorders</title>
<title level="j" type="abbreviated">Mov. disord.</title>
<idno type="ISSN">0885-3185</idno>
</seriesStmt>
</fileDesc>
<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Corpus callosum</term>
<term>Genetic linkage</term>
<term>Hereditary spastic paraplegia</term>
<term>Nervous system diseases</term>
</keywords>
<keywords scheme="Pascal" xml:lang="fr"><term>Paraplégie spasmodique héréditaire de Strümpell-Lorrain</term>
<term>Pathologie du   système nerveux</term>
<term>Liaison génétique</term>
<term>Corps calleux</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 SPGI5 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>
<inist><standard h6="B"><pA><fA01 i1="01" i2="1"><s0>0885-3185</s0>
</fA01>
<fA03 i2="1"><s0>Mov. disord.</s0>
</fA03>
<fA05><s2>23</s2>
</fA05>
<fA06><s2>3</s2>
</fA06>
<fA08 i1="01" i2="1" l="ENG"><s1>Spastic Paraplegia 15 : Linkage and Clinical Description of Three Tunisian Families</s1>
</fA08>
<fA11 i1="01" i2="1"><s1>BOUKHRIS (Amir)</s1>
</fA11>
<fA11 i1="02" i2="1"><s1>FEKI (Imed)</s1>
</fA11>
<fA11 i1="03" i2="1"><s1>DENIS (Elodie)</s1>
</fA11>
<fA11 i1="04" i2="1"><s1>MOHAMED IMED MILADI</s1>
</fA11>
<fA11 i1="05" i2="1"><s1>BRICE (Alexis)</s1>
</fA11>
<fA11 i1="06" i2="1"><s1>MHIRI (Chokri)</s1>
</fA11>
<fA11 i1="07" i2="1"><s1>STEVANIN (Giovanni)</s1>
</fA11>
<fA14 i1="01"><s1>Department of Neurology, Habib Bourguiba University Hospital</s1>
<s2>Sfax</s2>
<s3>TUN</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>6 aut.</sZ>
</fA14>
<fA14 i1="02"><s1>Faculté de Médecine de Sfax</s1>
<s3>TUN</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>6 aut.</sZ>
</fA14>
<fA14 i1="03"><s1>INSERM, U679</s1>
<s2>Paris</s2>
<s3>FRA</s3>
<sZ>1 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>7 aut.</sZ>
</fA14>
<fA14 i1="04"><s1>Pierre and Marie Curie -Paris 6 University, UMR S679, Federative Institute for Neuroscience Research (IFR70), Pitié-Salpêtrière Hospital</s1>
<s2>Paris</s2>
<s3>FRA</s3>
<sZ>1 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>7 aut.</sZ>
</fA14>
<fA14 i1="05"><s1>Department of Genetics and Cytogenetics, Pitié-Salpêtrière Hospital, AP-HP</s1>
<s2>Paris</s2>
<s3>FRA</s3>
<sZ>1 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>7 aut.</sZ>
</fA14>
<fA20><s1>429-433</s1>
</fA20>
<fA21><s1>2008</s1>
</fA21>
<fA23 i1="01"><s0>ENG</s0>
</fA23>
<fA43 i1="01"><s1>INIST</s1>
<s2>20953</s2>
<s5>354000173639210170</s5>
</fA43>
<fA44><s0>0000</s0>
<s1>© 2008 INIST-CNRS. All rights reserved.</s1>
</fA44>
<fA45><s0>15 ref.</s0>
</fA45>
<fA47 i1="01" i2="1"><s0>08-0169589</s0>
</fA47>
<fA60><s1>P</s1>
<s3>CC</s3>
</fA60>
<fA61><s0>A</s0>
</fA61>
<fA64 i1="01" i2="1"><s0>Movement disorders</s0>
</fA64>
<fA66 i1="01"><s0>USA</s0>
</fA66>
<fC01 i1="01" l="ENG"><s0>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 SPGI5 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.</s0>
</fC01>
<fC02 i1="01" i2="X"><s0>002B17</s0>
</fC02>
<fC02 i1="02" i2="X"><s0>002B22D01</s0>
</fC02>
<fC03 i1="01" i2="X" l="FRE"><s0>Paraplégie spasmodique héréditaire de Strümpell-Lorrain</s0>
<s5>01</s5>
</fC03>
<fC03 i1="01" i2="X" l="ENG"><s0>Hereditary spastic paraplegia</s0>
<s5>01</s5>
</fC03>
<fC03 i1="01" i2="X" l="SPA"><s0>Paraplejía espasmódica hereditaria Strümpell-Lorrain</s0>
<s5>01</s5>
</fC03>
<fC03 i1="02" i2="X" l="FRE"><s0>Pathologie du   système nerveux</s0>
<s5>02</s5>
</fC03>
<fC03 i1="02" i2="X" l="ENG"><s0>Nervous system diseases</s0>
<s5>02</s5>
</fC03>
<fC03 i1="02" i2="X" l="SPA"><s0>Sistema nervioso patología</s0>
<s5>02</s5>
</fC03>
<fC03 i1="03" i2="X" l="FRE"><s0>Liaison génétique</s0>
<s5>09</s5>
</fC03>
<fC03 i1="03" i2="X" l="ENG"><s0>Genetic linkage</s0>
<s5>09</s5>
</fC03>
<fC03 i1="03" i2="X" l="SPA"><s0>Ligamiento genético</s0>
<s5>09</s5>
</fC03>
<fC03 i1="04" i2="X" l="FRE"><s0>Corps calleux</s0>
<s5>10</s5>
</fC03>
<fC03 i1="04" i2="X" l="ENG"><s0>Corpus callosum</s0>
<s5>10</s5>
</fC03>
<fC03 i1="04" i2="X" l="SPA"><s0>Cuerpo calloso</s0>
<s5>10</s5>
</fC03>
<fC07 i1="01" i2="X" l="FRE"><s0>Pathologie de l'encéphale</s0>
<s5>37</s5>
</fC07>
<fC07 i1="01" i2="X" l="ENG"><s0>Cerebral disorder</s0>
<s5>37</s5>
</fC07>
<fC07 i1="01" i2="X" l="SPA"><s0>Encéfalo patología</s0>
<s5>37</s5>
</fC07>
<fC07 i1="02" i2="X" l="FRE"><s0>Maladie dégénérative</s0>
<s5>38</s5>
</fC07>
<fC07 i1="02" i2="X" l="ENG"><s0>Degenerative disease</s0>
<s5>38</s5>
</fC07>
<fC07 i1="02" i2="X" l="SPA"><s0>Enfermedad degenerativa</s0>
<s5>38</s5>
</fC07>
<fC07 i1="03" i2="X" l="FRE"><s0>Maladie héréditaire</s0>
<s5>39</s5>
</fC07>
<fC07 i1="03" i2="X" l="ENG"><s0>Genetic disease</s0>
<s5>39</s5>
</fC07>
<fC07 i1="03" i2="X" l="SPA"><s0>Enfermedad hereditaria</s0>
<s5>39</s5>
</fC07>
<fC07 i1="04" i2="X" l="FRE"><s0>Pathologie de la moelle épinière</s0>
<s5>40</s5>
</fC07>
<fC07 i1="04" i2="X" l="ENG"><s0>Spinal cord disease</s0>
<s5>40</s5>
</fC07>
<fC07 i1="04" i2="X" l="SPA"><s0>Médula espinal patología</s0>
<s5>40</s5>
</fC07>
<fC07 i1="05" i2="X" l="FRE"><s0>Pathologie du   système nerveux central</s0>
<s5>41</s5>
</fC07>
<fC07 i1="05" i2="X" l="ENG"><s0>Central nervous system disease</s0>
<s5>41</s5>
</fC07>
<fC07 i1="05" i2="X" l="SPA"><s0>Sistema nervosio central patología</s0>
<s5>41</s5>
</fC07>
<fN21><s1>105</s1>
</fN21>
<fN44 i1="01"><s1>OTO</s1>
</fN44>
<fN82><s1>OTO</s1>
</fN82>
</pA>
</standard>
</inist>
<affiliations><list><country><li>France</li>
<li>Tunisie</li>
</country>
<settlement><li>Paris</li>
</settlement>
</list>
<tree><country name="Tunisie"><noRegion><name sortKey="Boukhris, Amir" sort="Boukhris, Amir" uniqKey="Boukhris A" first="Amir" last="Boukhris">Amir Boukhris</name>
</noRegion>
<name sortKey="Boukhris, Amir" sort="Boukhris, Amir" uniqKey="Boukhris A" first="Amir" last="Boukhris">Amir Boukhris</name>
<name sortKey="Feki, Imed" sort="Feki, Imed" uniqKey="Feki I" first="Imed" last="Feki">Imed Feki</name>
<name sortKey="Feki, Imed" sort="Feki, Imed" uniqKey="Feki I" first="Imed" last="Feki">Imed Feki</name>
<name sortKey="Mhiri, Chokri" sort="Mhiri, Chokri" uniqKey="Mhiri C" first="Chokri" last="Mhiri">Chokri Mhiri</name>
<name sortKey="Mhiri, Chokri" sort="Mhiri, Chokri" uniqKey="Mhiri C" first="Chokri" last="Mhiri">Chokri Mhiri</name>
<name sortKey="Mohamed Imed Miladi" sort="Mohamed Imed Miladi" uniqKey="Mohamed Imed Miladi" last="Mohamed Imed Miladi">MOHAMED IMED MILADI</name>
<name sortKey="Mohamed Imed Miladi" sort="Mohamed Imed Miladi" uniqKey="Mohamed Imed Miladi" last="Mohamed Imed Miladi">MOHAMED IMED MILADI</name>
</country>
<country name="France"><noRegion><name sortKey="Boukhris, Amir" sort="Boukhris, Amir" uniqKey="Boukhris A" first="Amir" last="Boukhris">Amir Boukhris</name>
</noRegion>
<name sortKey="Boukhris, Amir" sort="Boukhris, Amir" uniqKey="Boukhris A" first="Amir" last="Boukhris">Amir Boukhris</name>
<name sortKey="Boukhris, Amir" sort="Boukhris, Amir" uniqKey="Boukhris A" first="Amir" last="Boukhris">Amir Boukhris</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="Denis, Elodie" sort="Denis, Elodie" uniqKey="Denis E" first="Elodie" last="Denis">Elodie Denis</name>
<name sortKey="Denis, Elodie" sort="Denis, Elodie" uniqKey="Denis E" first="Elodie" last="Denis">Elodie Denis</name>
<name sortKey="Denis, Elodie" sort="Denis, Elodie" uniqKey="Denis E" first="Elodie" last="Denis">Elodie Denis</name>
<name sortKey="Stevanin, Giovanni" sort="Stevanin, Giovanni" uniqKey="Stevanin G" first="Giovanni" last="Stevanin">Giovanni Stevanin</name>
<name sortKey="Stevanin, Giovanni" sort="Stevanin, Giovanni" uniqKey="Stevanin G" first="Giovanni" last="Stevanin">Giovanni Stevanin</name>
<name sortKey="Stevanin, Giovanni" sort="Stevanin, Giovanni" uniqKey="Stevanin G" first="Giovanni" last="Stevanin">Giovanni Stevanin</name>
</country>
</tree>
</affiliations>
</record>

Pour manipuler ce document sous Unix (Dilib)

EXPLOR_STEP=$WICRI_ROOT/Wicri/Santé/explor/MovDisordV3/Data/PascalFrancis/Checkpoint

HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 001093 | SxmlIndent | more

HfdSelect -h $EXPLOR_AREA/Data/PascalFrancis/Checkpoint/biblio.hfd -nk 001093 | SxmlIndent | more

Pour mettre un lien sur cette page dans le réseau Wicri

{{Explor lien
   |wiki=    Wicri/Santé
   |area=    MovDisordV3
   |flux=    PascalFrancis
   |étape=   Checkpoint
   |type=    RBID
   |clé=     Pascal:08-0169589
   |texte=   Spastic Paraplegia 15 : Linkage and Clinical Description of Three Tunisian Families
}}

This area was generated with Dilib version V0.6.23.
Data generation: Sun Jul 3 12:29:32 2016. Site generation: Wed Feb 14 10:52:30 2024

	Movement Disorders (revue)
	Attention, ce site est en cours de développement ! Attention, site généré par des moyens informatiques à partir de corpus bruts. Les informations ne sont donc pas validées.

Movement Disorders (revue)

Spastic Paraplegia 15 : Linkage and Clinical Description of Three Tunisian Families

Spastic Paraplegia 15 : Linkage and Clinical Description of Three Tunisian Families

Source :

Descripteurs français

English descriptors

Abstract

Links toward previous steps (curation, corpus...)

Links to Exploration step

Le document en format XML

Pour manipuler ce document sous Unix (Dilib)

Pour mettre un lien sur cette page dans le réseau Wicri