Mutation update: Review of TPP1 gene variants associated with neuronal ceroid lipofuscinosis CLN2 disease
Sign Up to like & getrecommendations! Published in 2019 at "Human Mutation"
DOI: 10.1002/humu.23860
Abstract: Neuronal ceroid lipofuscinosis type 2 (CLN2 disease) is an autosomal recessive condition caused by variants in the TPP1 gene, leading to deficient activity of the lysosomal enzyme tripeptidyl peptidase I (TPP1). We update on the… read more here.
Keywords: tpp1; neuronal ceroid; disease; ceroid lipofuscinosis ... See more keywords
Generation of pathogenic TPP1 mutations in human stem cells as a model for neuronal ceroid lipofuscinosis type 2 disease.
Sign Up to like & getrecommendations! Published in 2021 at "Stem cell research"
DOI: 10.1016/j.scr.2021.102323
Abstract: Neuronal ceroid lipofuscinosis type 2 (CLN2 disease) is an autosomal recessive neurodegenerative disorder generally with onset at 2 to 4 years of age and characterized by seizures, loss of vision, progressive motor and mental decline, and… read more here.
Keywords: neuronal ceroid; disease; ceroid lipofuscinosis; type ... See more keywords
Cerliponase Alfa for the Treatment of Atypical Phenotypes of CLN2 Disease: A Retrospective Case Series
Sign Up to like & getrecommendations! Published in 2020 at "Journal of Child Neurology"
DOI: 10.1177/0883073820977997
Abstract: Background: The classic phenotype of CLN2 disease (neuronal ceroid lipofuscinosis type 2) typically manifests between ages 2 and 4 years with a predictable clinical course marked by epilepsy, language developmental delay, and rapid psychomotor decline.… read more here.
Keywords: treatment; atypical phenotypes; language; cerliponase alfa ... See more keywords
Cerebrospinal fluid neurofilament light levels in CLN2 disease patients treated with enzyme replacement therapy normalise after two years on treatment.
Sign Up to like & getrecommendations! Published in 2021 at "F1000Research"
DOI: 10.12688/f1000research.54556.1
Abstract: Classic late infantile neuronal ceroid lipofuscinosis (CLN2 disease) is caused by a deficiency of tripeptidyl-peptidase-1. In 2017, the first CLN2 enzyme replacement therapy (ERT) cerliponase alfa (Brineura) was approved by the FDA and EMA. The… read more here.
Keywords: therapy; cln2; treatment; nfl ... See more keywords
Cerebrospinal fluid neurofilament light chain levels in CLN2 disease patients treated with enzyme replacement therapy normalise after two years on treatment
Sign Up to like & getrecommendations! Published in 2022 at "F1000Research"
DOI: 10.12688/f1000research.54556.2
Abstract: Classic late infantile neuronal ceroid lipofuscinosis (CLN2 disease) is caused by a deficiency of tripeptidyl-peptidase-1. In 2017, the first CLN2 enzyme replacement therapy (ERT) cerliponase alfa (Brineura) was approved by the FDA and EMA. The… read more here.
Keywords: nfl; therapy; cln2 disease; treatment ... See more keywords