Neuronal ceroid lipofuscinosis type cln2: prevalent phenotypes and genotypes in Latin America

Neuronal ceroid lipofuscinosis type cln2: prevalent phenotypes and genotypes in Latin America

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.

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Bibliographic Details
Main Authors: 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
Format: Fil: Fil: Sismondi, Inés Adriana. Universidad Nacional de Córdoba. Facultad de Odontología; Argentina. biblioteca
Language:eng
Published: 2013
Subjects:Neuronal ceroid lipofuscinosis, Cln2, Phenotypes, Genotypes,
Online Access:http://hdl.handle.net/11086/21727
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http://hdl.handle.net/11086/21727

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