SPG7) c.1529C>T (p.Ala510Val) mutants account for 2.3% of #cerebellar ataxia cases in Italy, suggesting that this variant should be considered as priority test in the presence of late onset pure #ataxia onlinelibrary.wiley.com/doi/abs/10.111…
Very Interesting! I was only tested for SCA6 as that was the only one that applied to late onset hereditary Ataxia, they said. SCA6 was negative, so mine was ruled ILOCA. That always surprised me, because my mother had late onset Ataxia as well. So now I may be SCA7???
It seems that there is alot more to this, although we have be mindful that as research progresses - it will “uncover” differing and new ways within the diagnosis process