A new dominantly inherited pure cerebellar ataxia, SCA 30
E Storey, M Bahlo, M Fahey, O Sisson, CJ Lueck, RJM Gardner
JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY | B M J PUBLISHING GROUP | Published : 2009
BACKGROUND: The spinocerebellar ataxias (SCAs) are clinically and genetically heterogeneous. Currently, 27 forms are known, with the causative gene identified in 16. Although the majority of dominant pedigrees worldwide have SCAs 1, 2, 3, 6 or 8, new SCAs continue to be delineated. We describe a new disorder: SCA 30. METHODS: An Australian family of Anglo-Celtic ethnicity manifested a relatively pure, slowly evolving ataxia. Six affected and four unaffected members were personally examined in a standardised fashion. MRI and nerve conduction studies were performed in two. An autosomal genome-wide linkage study was undertaken, and an in silico analysis of potential candidate genes in the linka..View full abstract
ES is supported by the Van Cleef Roet Centre, Monash University, MB by an NH & MRC Career Development Award, and OS by the Undergraduate Research Opportunities Program (UROP). MF and RJMG have had support from the Murdoch Children's Research Institute. CL is supported by the Canberra Hospital.