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

Identifieur interne : 002E27 ( Istex/Corpus ); précédent : 002E26; suivant : 002E28

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

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

Source :

RBID : ISTEX:5B8D511B4C6488A3015F71A76CF6B3FE5712BAED

English descriptors

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

Links to Exploration step

ISTEX:5B8D511B4C6488A3015F71A76CF6B3FE5712BAED

Le document en format XML

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