Article
A new locus (SPG46) maps to 9p21.2-q21.12 in a Tunisian family with a complicated autosomal recessive hereditary spastic paraplegia with mental impairment and thin corpus callosum.
Neurogenetics - 1 Oct 2010
Boukhris Amir, Feki Imed, Elleuch Nizar, Miladi Mohamed Imed, Boland-Augé Anne, Truchetto Jérémy, Mundwiller Emeline, Jezequel Nadia, Zelenika Diana, Mhiri Chokri, Brice Alexis, Stevanin Giovanni
Abstract excerpt
Hereditary spastic paraplegia (HSP) with thin corpus callosum (TCC) and mental impairment is a frequent subtype of complicated HSP, often inherited as an autosomal recessive (AR) trait. It is clear from molecular genetic analyses that there are several underlying causes of this syndrome, with at least six genetic loci identified to date. However, SPG11 and SPG15 are the two major genes for this entity. To map the...
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