Missense mutations in the PRKCG gene have recently been identified in spinocerebellar ataxia 14 (SCA14) patients; these include the Gly118Asp mutation that we found in a large Dutch autosomal dominant cerebellar ataxia (ADCA) family. We subsequently screened the current Dutch ataxia cohort (approximately 900 individuals) for SCA14 mutations in the Cys2 region of the PRKCG gene. We identified the Gly118Asp mutation in another eight individuals from five small families. Haplotype analysis identified a shared chromosomal region surrounding the SCA14 gene, and genealogical research was able to link all these ADCA patients to a single common ancestor. We therefore confirmed that the Gly118Asp mutation is a SCA14 founder mutation in the Dutch ADCA population.

doi.org/10.1007/s00439-005-1278-z, hdl.handle.net/1765/56471
Human Genetics
Department of Clinical Genetics

Verbeek, D., van de Warrenburg, B., Hennekam, R., Dooijes, D., Ippel, E. F., Verschuuren-Bemelmans, C., … Sinke, R. (2005). Gly118Asp is a SCA14 founder mutation in the Dutch ataxia population. Human Genetics, 117(1), 88–91. doi:10.1007/s00439-005-1278-z