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Spastic paraplegia 15: linkage and clinical description of three Tunisian families.

Identifieur interne : 002084 ( PubMed/Checkpoint ); précédent : 002083; suivant : 002085

Spastic paraplegia 15: linkage and clinical description of three Tunisian families.

Auteurs : Amir Boukhris [Tunisie] ; Imed Feki ; Elodie Denis ; Mohamed Imed Miladi ; Alexis Brice ; Chokri Mhiri ; Giovanni Stevanin

Source :

Movement disorders : official journal of the Movement Disorder Society [ 1531-8257 ] ; 2008.

RBID : pubmed:18098276

Descripteurs français

Wicri :
- geographic : Tunisie.

English descriptors

KwdEn :
- Chromosomes, Human, Pair 14 (genetics), Family Health, Genetic Linkage, Humans, Lod Score, Magnetic Resonance Imaging, Paraplegia (genetics), Paraplegia (physiopathology), Tunisia (epidemiology).
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.

DOI: 10.1002/mds.21848
PubMed: 18098276

Affiliations:

Tunisie

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Le document en format XML

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<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>
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<author><name sortKey="Feki, Imed" sort="Feki, Imed" uniqKey="Feki I" first="Imed" last="Feki">Imed Feki</name>
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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="Miladi, Mohamed Imed" sort="Miladi, Mohamed Imed" uniqKey="Miladi M" first="Mohamed Imed" last="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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<author><name sortKey="Mhiri, Chokri" sort="Mhiri, Chokri" uniqKey="Mhiri C" first="Chokri" last="Mhiri">Chokri Mhiri</name>
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<author><name sortKey="Stevanin, Giovanni" sort="Stevanin, Giovanni" uniqKey="Stevanin G" first="Giovanni" last="Stevanin">Giovanni Stevanin</name>
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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 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>
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<Title>Movement disorders : official journal of the Movement Disorder Society</Title>
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<Abstract><AbstractText>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.</AbstractText>
<CopyrightInformation>2007 Movement Disorder Society</CopyrightInformation>
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<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>
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	Movement Disorders (revue)
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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

Pour générer des pages wiki