Open AccessCerliponase Alfa for the Treatment of Atypical Phenotypes of CLN2 Disease: A Retrospective Case Series
Author(s) -
Eva Wibbeler,
Raymond Wang,
Emily de los Reyes,
Nicola Specchio,
Paul Gissen,
Norberto Guelbert,
Miriam Nickel,
Christoph Schwering,
Lenora Lehwald,
Marina Trivisano,
Laura Lee,
Gianni Amato,
Jessica CohenPfeffer,
Renée Shediac,
Fernanda LealPardinas,
Angela Schulz
Publication year - 2020
Publication title -
journal of child neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.661
H-Index - 105
eISSN - 1702-6075
pISSN - 0883-0738
DOI - 10.1177/0883073820977997
Subject(s) - medicine , pediatrics , ataxia , disease , epilepsy , retrospective cohort study , age of onset , rating scale , psychology , psychiatry , developmental psychology
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. Atypical phenotypes exhibit variable time of onset, symptomatology, and/or progression. Intracerebroventricular-administered cerliponase alfa (rhTPP1 enzyme) has been shown to stabilize motor and language function loss in patients with classic CLN2 disease, but its impact on individuals with atypical phenotypes has not been described.