An integrated strategy for the diagnosis of Neuronal Ceroid Lipofuscinoses types 1 (CLN1) and 2 (CLN2) in eleven Latin American patients

KOHAN ROMINA; CISMONDI INÉS ADRIANA; DODELSON DE KREMER, R; MUELLER VIV; GUELBERT N; TAPIA ANZOLINI, V; FIETZ MICHAEL; OLLER RAMÍREZ, ANA MARÍA; NOHER DE HALAC, R.I.

WILEY-BLACKWELL PUBLISHING, INC

Año: 2009 vol. 76 p. 372 - 372

he neuronal ceroid lipofuscinoses (NCLs) are a family of progressive neurodegenerative diseases that are characterized by the cellular accumulation of ceroid lipofuscin-like bodies. NCL type 1 (CLN1) and type 2 (CLN2) are caused by deficiencies of the lysosomal enzymes  palmitoyl-protein thioesterase 1 (PPT-1) and tripeptidyl peptidase 1 (TPP-1), respectively. In this study, 118 Latin American patients were examined for NCL using an integrated multidisciplinary program. This revealed two patients affected by CLN1 and nine by CLN2. Both CLN1 patients had a juvenile-onset phenotype with mutation studies of one patient demonstrating the known mutation p.Arg151X and a novel mutation in intron 3, c.363-3T>G. Six of the CLN2 patients presented with the ?classical? late-infantile phenotype. The remaining three patients, who were siblings, presented with a ?protracted? phenotype and had a higher level of residual TPP-1 activity than the ?classical? CLN2 patients. Genotype analysis of