Condition: Spastic paraplegia 8, autosomal dominant


rs1462319941 in WASHC5 gene and Spastic paraplegia 8, autosomal dominant PMID 24065355 2013 A novel mutation in KIAA0196: identification of a gene involved in Ritscher-Schinzel/3C syndrome in a First Nations cohort.

PMID 20833645 2010 Strumpellin is a novel valosin-containing protein binding partner linking hereditary spastic paraplegia to protein aggregation diseases.

PMID 23881105 2013 Exome sequencing expands the mutational spectrum of SPG8 in a family with spasticity responsive to L-DOPA treatment.

PMID 17160902 2007 Mutations in the KIAA0196 gene at the SPG8 locus cause hereditary spastic paraplegia.

PMID 23085491 2013 The hereditary spastic paraplegia protein strumpellin: characterisation in neurons and of the effect of disease mutations on WASH complex assembly and function.

PMID 25454649 2014 A novel strumpellin mutation and potential pitfalls in the molecular diagnosis of hereditary spastic paraplegia type SPG8.

PMID 23455931 2013 Pure adult-onset spastic paraplegia caused by a novel mutation in the KIAA0196 (SPG8) gene.