Although these variants are rare in our dataset, a similar GOF effect is seen in other spinocerebellar ataxias (SCA2, SCA3), Huntington's disease, familial Alzheimer's disease, and a recent mouse model of IP3R1 function, again having therapeutic implications.23, 24, 25, 26, 28, 29, 63. The gene discussed is ITPR1; the disease is cerebellar ataxia.