Article
Neuronal ceroid lipofuscinosis type CLN2: a new rationale for the construction of phenotypic subgroups based on a survey of 25 cases in South America.
Gene - 1 Mar 2013
Kohan Romina, Carabelos María Noelia, Xin Winnie, Sims Katherine, Guelbert Norberto, Cismondi Inés Adriana, Pons Patricia, Alonso Graciela Irene, Troncoso Mónica, Witting Scarlet, Pearce David A, Dodelson de Kremer Raquel, Oller-Ramírez Ana María, Noher de Halac Inés
Abstract excerpt
Tripeptidyl-peptidase 1 (TPP1) null or residual activity occurs in neuronal ceroid lipofuscinosis (NCL) with underlying TPP1/CLN2 mutations. A survey of 25 South American CLN2 affected individuals enabled the differentiation of two phenotypes: classical late-infantile and variant juvenile, each in approximately 50% of patients, with residual TPP1 activity occurring in approximately 32%. Each individual was...
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