Phenotype-genotype correlation in eight patients with Finnish variant lateinfantile NCL (CLN5)

The authors analyzed the clinical phenotype, including MRI, of eight patien ts with Finnish variant late infantile neuronal ceroid lipofuscinosis (vLIN CL(Fin); CLN5; MIM256731). Although the four known mutations, including one novel mutation identified in this study, have very different consequences for the predicted polypeptide, none of them results in an atypical phenotyp e, as has been reported in other forms of NCL. Thus, it seems likely that e ach mutation severely disturbs the normal function of the CLN5 protein.