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. Author manuscript; available in PMC: 2011 Feb 1.
Published in final edited form as: Nature. 2010 Aug 26;466(7310):1069–1075. doi: 10.1038/nature09320

Figure 5.

Figure 5

Intermediate-length Ataxin-2 polyQ expansions linked to ALS. a) The ATXN2 gene contains a trinucleotide repeat encoding polyQ. The repeat length is normally 22–23Q. Expansions of > 34 cause SCA212. We hypothesized that intermediate-length polyQ expansions (e.g. 24–34) could be linked to ALS. The Ataxin-2 polyQ length was defined by Genescan analysis of ALS cases and neurologically normal controls (for details, see Table 1 and Methods). b) Representative examples of Genescan analysis of polyQ lengths from control and ALS cases. c) The distribution of Ataxin-2 polyQ repeat lengths in ALS and control cases. PolyQ lengths ≥27 are significantly enriched in ALS vs. controls. Additionally, polyQ lengths >31 were never observed in our controls but we found 10 ALS patients above this threshold. d) In a selected cohort of ALS patients (n=65), those with Ataxin-2 polyQ expansions showed significantly lower age of onset (compared by survival analysis; also see Table 2).