Autosomal recessive hereditary spastic paraplegia with thin corpus callosum (HSP-TCC) maps to the SPG11 locus in the majority of cases. Mutations in the KIAA1840 gene, encoding spatacsin, have been shown to underlie SPG11-linked HSP-TCC. The aim of this study was to perform candidate gene analysis in HSP-TCC subjects from Asian families and to characterize disruption of spatacsin function during zebrafish development. Homozygosity mapping and direct sequencing were used to assess the ACCPN, S...Expand abstract
- Publication status:
- Publisher copy:
- Copyright date:
Novel SPG11 mutations in Asian kindreds and disruption of spatacsin function in the zebrafish.
Views and Downloads
If you are the owner of this record, you can report an update to it here: Report update to this record