Article
A novel CLN8 mutation in late-infantile-onset neuronal ceroid lipofuscinosis (LINCL) reveals aspects of CLN8 neurobiological function.
Human mutation - 1 Jul 2009
Vantaggiato Chiara, Redaelli Francesca, Falcone Sestina, Perrotta Cristiana, Tonelli Alessandra, Bondioni Sara, Morbin Michela, Riva Daria, Saletti Veronica, Bonaglia Maria C, Giorda Roberto, Bresolin Nereo, Clementi Emilio, Bassi Maria Teresa
Abstract excerpt
The late-infantile-onset forms of neuronal ceroid lipofuscinosis (LINCL) are the most genetically heterogeneous group among the autosomal recessive neuronal ceroid lipofuscinoses (NCLs), with causative mutations found in CLN1, CLN2, CLN5, CLN6, CLN7 (MFSD8), and CLN8 genes. Homozygous mutations in CLN8 are associated with two distinct phenotypes: progressive epilepsy and mental retardation (EPMR), first...
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