Spastic paraplegia 15: linkage and clinical description of three Tunisian families.
Mov Disord.. 2008-01-01; 23(3): 429-433
DOI: 10.1002/mds.21848
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1. Mov Disord. 2008 Feb 15;23(3):429-33.
Spastic paraplegia 15: linkage and clinical description of three Tunisian
families.
Boukhris A(1), Feki I, Denis E, Miladi MI, Brice A, Mhiri C, Stevanin G.
Author information:
(1)Department of Neurology, Habib Bourguiba University Hospital, Sfax, Tunisia.
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
DOI: 10.1002/mds.21848
PMID: 18098276 [Indexed for MEDLINE]