ITPR1 and spinocerebellar ataxia type 29: In a cohort study on a population of 21 patients with SCA29, Zambonin et al. identified six novel mutations in the ITPR1 gene [40]: Three mutations in the IP3 binding domain (R269G, K279E, K418ins), two mutations in the transmembrane domain (G2506R, I2550T), and one in the regulatory domain (T1386M); no specific genotype–phenotype correlations were observed, but the recurrence in affected subjects suggested the pathogenic role of these mutations.