SLC12A3 and Gerstmann syndrome: Because the clinical features of this patient were indicative of GS, we carried out genetic analysis, which identified a novel mutation in SLC12A3. Specifically, the mutation was at the 2099th nucleotide position and involved the substitution of a thymidine residue by a cytosine residue (2099T>C) resulting in the substitution of leucine by proline at codon 700 of the NCCT (Figure 1A,c).