Cerliponase alfa changes the natural history of children with neuronal ceroid lipofuscinosis type 2: The first French cohort

Bastien Estublier,Aline Cano,Célia Hoebeke,Samia Pichard,Didier Scavarda,Isabelle Desguerre,Stéphane Auvin,Brigitte Chabrol

European Journal of Paediatric Neurology（2021）

引用 9|浏览30

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摘要

•Neuronal Ceroid Lipofuscinosis type 2 (CLN2) is a neurodegenerative disease.•Speech delay, myoclonic epilepsy and gait disturbance must lead to a rapid diagnosis.•Cerliponase alfa is an intracerebroventricular enzyme replacement therapy (ERT).•Early initiation of ERT can stop evolution of the disease.•ERT in patients with advanced stage of the disease does not prevent the worsening of the symptoms.

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关键词

Neuronal ceroid lipofuscinosis type 2,Lysosomal storage disorders,Tripeptidyl peptidase I,Enzyme replacement therapy,Cerliponase alfa

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