Calculating predictive values for the large repeat alleles at the SCA8 locus in patients with ataxia

Since the original description of SCA8 in 1999, 1 several reports have been published on the occurrence of the SCA8 gene CTG repeat expansion in various populations. [...]caution in interpreting mutation findings in clinical samples has been stressed and some investigators discourage genetic testing for SCA8 until a pathological mechanism has been established. 3, 6 SUBJECTS AND METHODS We have investigated the occurrence of the SCA8 repeat expansion in 251 unrelated Finnish SCA patients and found 22 of them with the expansion.