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, langua...
Highlights
The classic phenotype of ceroid lipofuscinosis type 2 (CLN2) disease typically manifests between ages 2 and 4 years with a predictable clinical course marked by epilepsy, language developmental delay, and rapid psychomotor decline
Medical history data were collected on patients who met the following criteria: (1) had a confirmed diagnosis of CLN2 disease by enzymatic and/or molecular methods, (2) exhibited atypical symptomatology and/or disease progression compared with the classic phenotype, and (3) was receiving treatment with cerliponase alfa
Classic late-infantile CLN2 disease is characterized by symptom onset between 2 and 4 years of age and a predictable clinical course marked by epilepsy and rapid psychomotor decline.[10,11]
Summary
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. 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. Methods: A chart review was conducted of 14 patients (8 male, 6 female) with atypical CLN2 phenotypes who received cerliponase alfa. Results: Median age at first presenting symptom was 5.9 years. Median age at treatment initiation was 11.7 years; treatment duration ranged from 11 to 58 months. Conclusions: Cerliponase alfa is well tolerated and has the potential to stabilize motor and language function in patients with atypical phenotypes of CLN2 disease
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