We characterized the repeat sequence in 40 of the 45 ALS cases with intermediate length polyQ repeats in the ATXN2 gene of 27–33 in length and nine of the control cases [31]; these constituted a subset of 40 ALS cases we previously reported with expanded ATXN2 alleles for which motor neuron disease was the initial presentation and from which we were able to obtain amplifiable DNA. This evidence concerns the gene ATXN2 and amyotrophic lateral sclerosis.