Ontology highlight
ABSTRACT:
SUBMITTER: Abdel Aleem A
PROVIDER: S-EPMC3073376 | biostudies-literature | 2011 Jan-Feb
REPOSITORIES: biostudies-literature
Abdel Aleem Alice A Abu-Shahba Nourhan N Swistun Dominika D Silhavy Jennifer J Bielas Stephanie L SL Sattar Shifteh S Gleeson Joseph G JG Zaki Maha S MS
European journal of medical genetics 20101112 1
Hereditary spastic paraplegia (HSP) represents a large group of neurological disorders characterized by progressive spasticity of the lower limbs. One subtype of HSP shows an autosomal recessive form of inheritance with thin corpus callosum (ARHSP-TCC), and displays genetic heterogeneity with four known loci. We identified a consanguineous Egyptian family with five affected individuals with ARHSP-TCC. We found linkage to the SPG11 locus and identified a novel homozygous p.Q498X stop codon mutati ...[more]