MovDisordV3, PascalFrancis, Curation, bibRecord, 001996

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

Identifieur interne : 001996 ( PascalFrancis/Curation ); précédent : 001995; suivant : 001997

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.

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C01	`01`		`ENG`	@0 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.
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C03	`03`	`X`	`ENG`	`@0 Genetic linkage @5 09`
C03	`03`	`X`	`SPA`	`@0 Ligamiento genético @5 09`
C03	`04`	`X`	`FRE`	`@0 Corps calleux @5 10`
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C03	`04`	`X`	`SPA`	`@0 Cuerpo calloso @5 10`
C07	`01`	`X`	`FRE`	`@0 Pathologie de l'encéphale @5 37`
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C07	`02`	`X`	`FRE`	`@0 Maladie dégénérative @5 38`
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C07	`03`	`X`	`SPA`	`@0 Enfermedad hereditaria @5 39`
C07	`04`	`X`	`FRE`	`@0 Pathologie de la moelle épinière @5 40`
C07	`04`	`X`	`ENG`	`@0 Spinal cord disease @5 40`
C07	`04`	`X`	`SPA`	`@0 Médula espinal patología @5 40`
C07	`05`	`X`	`FRE`	`@0 Pathologie du système nerveux central @5 41`
C07	`05`	`X`	`ENG`	`@0 Central nervous system disease @5 41`
C07	`05`	`X`	`SPA`	`@0 Sistema nervosio central patología @5 41`
N21				`@1 105`
N44	`01`			`@1 OTO`
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Links toward previous steps (curation, corpus...)

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Links to Exploration step

Pascal:08-0169589

Le document en format XML

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<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a">Spastic Paraplegia 15 : Linkage and Clinical Description of Three Tunisian Families</title>
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<author><name sortKey="Denis, Elodie" sort="Denis, Elodie" uniqKey="Denis E" first="Elodie" last="Denis">Elodie Denis</name>
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<author><name sortKey="Mohamed Imed Miladi" sort="Mohamed Imed Miladi" uniqKey="Mohamed Imed Miladi" last="Mohamed Imed Miladi">MOHAMED IMED MILADI</name>
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<author><name sortKey="Brice, Alexis" sort="Brice, Alexis" uniqKey="Brice A" first="Alexis" last="Brice">Alexis Brice</name>
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<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>
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<affiliation wicri:level="1"><inist:fA14 i1="05"><s1>Department of Genetics and Cytogenetics, Pitié-Salpêtrière Hospital, AP-HP</s1>
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<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>
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<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>4 aut.</sZ>
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<country>Tunisie</country>
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<affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Faculté de Médecine de Sfax</s1>
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<sZ>4 aut.</sZ>
<sZ>6 aut.</sZ>
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<country>Tunisie</country>
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</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>
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<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>
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<sZ>3 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>7 aut.</sZ>
</inist:fA14>
<country>France</country>
</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>
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<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>
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<seriesStmt><title level="j" type="main">Movement disorders</title>
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<idno type="ISSN">0885-3185</idno>
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<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>
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<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>
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<sZ>1 aut.</sZ>
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<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>
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	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

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