MovDisordV3, France, Analysis, bibRecord, 000279

Spastic paraplegia 15: Linkage and clinical description of three Tunisian families

Identifieur interne : 000279 ( France/Analysis ); précédent : 000278; suivant : 000280

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 ] ; 2008-02-15.

RBID : ISTEX:5B8D511B4C6488A3015F71A76CF6B3FE5712BAED

Descripteurs français

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

English descriptors

KwdEn :
- 14q22–q24, Chromosomes, Human, Pair 14 (genetics), Corpus callosum, Family Health, Genetic Linkage, Genetic linkage, Hereditary spastic paraplegia, Humans, Kjellin's syndrome, Lod Score, Magnetic Resonance Imaging, Nervous system diseases, Paraplegia (genetics), Paraplegia (physiopathology), SPG15, Tunisia (epidemiology), hereditary spastic paraplegia, linkage, thin corpus callosum.
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:

DOI: 10.1002/mds.21848

Affiliations:

France, Tunisie
Paris

Links to Exploration step

ISTEX:5B8D511B4C6488A3015F71A76CF6B3FE5712BAED

Le document en format XML

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<term>Genetic Linkage</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 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>
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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

	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.