Rare Diseases

Current bibliography for experts

"Late Infantile" search results...

CLN2

Cerebrospinal fluid neurofilament light chain levels in CLN2 disease patients treated with enzyme replacement therapy normalise after two years on treatment

2021-07-20

In this study, it is aimed to analyze CSF NfL in CLN2 patients treated with Cerliponase alfa (Brineura) to establish whether it can be used as a possible biomarker of response to therapy.

CLN2

Revealing the clinical phenotype of atypical neuronal ceroid lipofuscinosis type 2 disease

2021-04-01

The data of this study support the inclusion of neuronal ceroid lipofuscinosis type 2 (CLN2) disease, in the differential diagnosis of children who have seizures, behavioural disorders, or language abnormalities. Early diagnosis will allow early initiation of specific treatments.

CLN2

Neuronal ceroid lipofuscinosis type 2: An Australian case series

2020-04-24

This article aims to highlight typical clinical and radiological features that may prompt diagnosis of CLN2 disease in early disease stages.

CLN2

Changing Times for CLN2 Disease: The Era of Enzyme Replacement Therapy

2020-03-30

The natural history of CLN2 disease, its diagnosis and management, and the preclinical and clinical development of cerliponase alfa, were all described in this study. Cerliponase alfa administration in patients with CLN2 disease resulted in significant reductions in the rate of decline of motor and language functions.

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