Spastic paraplegia 15: linkage and clinical description of three Tunisian families.
Identifieur interne : 002084 ( PubMed/Checkpoint ); précédent : 002083; suivant : 002085Spastic 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 StevaninSource :
- Movement disorders : official journal of the Movement Disorder Society [ 1531-8257 ] ; 2008.
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.
DOI: 10.1002/mds.21848
PubMed: 18098276
Affiliations:
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pubmed:18098276Le document en format XML
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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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<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>
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