CLN9, CLCN6 and SGSH

Small numbers of cases have been found for three other genes

CLN9 gene symbol has been used for NCL with onset in the juvenile age range that is not CLN3 disease. Two pairs of affected siblings were described as CLN9 by Schulz et al. (see https://onlinelibrary.wiley.com/doi/10.1002/ana.20187). A later study by El Haddad et al (https://analyticalsciencejournals.onlinelibrary.wiley.com/doi/10.1002/elps.201200472) has demonstrated that these patients had mutations in CLN5.

CLCN6 - Single mutations have been described in two late onset NCL patients (see Poet et al. 2006 https://www.pnas.org/doi/10.1073/pnas.0606137103 : note that one patient was subsequently found by Kousi et al. to have two mutations in CLN5).

SGSH - Two heterozygous mutations have been described in a single patient who was diagnosed with adult onset NCL (Sleat et al., 2009). A later report has corrected the diagnosis to MPSIII, adult onset https://doi.org/10.1093/med/9780199590018.003.0014 (note this reference is not open access).