Neuronal ceroid lipofuscinosis type cln2: prevalent phenotypes and genotypes in Latin America
Date
2013Author
Sismondi, Inés Adriana
Guelbert, Norberto
Kohan, Romina
Carabelos, Noelia
Alonso, Graciela
Pons, Patricia
Oller Ramírez, Ana María
Noher de Halac, Rita Inés
Dodelson de Kremer, Raquel
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The Neuronal Ceroid Lipofuscinoses (NCLs), inherited neurodegenerative disorders, are the second most frequent group lysosomal pathologies (LP) of childhood. They are characterized by the pathological accumulation of ceroid-lipofuscin in the brain and other extra-cerebral tissues. The CLN2/TPP1 gene codifies the soluble lysosomal enzyme Tripeptidyl-Peptidase1 (TPP1), and is mutated in the CLN2 form of NCLs, whose high phenotypic variability was not explained yet. Aims: To establish if phenotype/genotype correlations are present in classic late infantile (LI) and variant juvenile (J) phenotypes in South America.