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

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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...

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Detalles Bibliográficos
Autores principales: 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
Formato: conferenceObject
Lenguaje:Inglés
Publicado: 2021
Materias:
Neuronal ceroid lipofuscinosis
Cln2
Phenotypes
Genotypes
Acceso en línea:http://hdl.handle.net/11086/21727
Aporte de:
Repositorio Digital Universitario (UNC) de Universidad Nacional de Córdoba
Descripción
Sumario: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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