During the past year we have published several studies identifying the extent and nature of LRRK2, PRKN and PINK mutations in Parkinson's disease. This work aims to further our understanding of the phenotypic spectrum associated with mutation in these genes. We have extended our work in the spinocerebellar ataxias by screening of TTBK2 and ITPR1 in ataxia probands (mutations in these genes were identified earlier by us to be causes of ataxia). Notably we also performed a large candidate association analysis within multiple system atrophy (MSA). This work showed for the first time that common variability in the gene SNCA is an unequivocal risk factor for MSA with an odds ratio of approximately 8. This provides critical etiologic insight into this disorder, for which no genetic risk factor had previously been identified.
NIH ExPorter
NIH ExPorter