Rare Diseases

Current bibliography for experts

"Nöronal Seroid Lipofusinoz" search results...

CLN2

Case report: Analysis of novel compound heterozygous TPP1 variants in a Chinese patient with neuronal ceroid lipofuscinosis type 2

2022-08-31

This article reports a rare case of neuronal ceroid lipofuscinosis type 2 (CLN2) caused by two novel variants of TPP1.

CLN2

Next-generation sequencing in childhood-onset epilepsies: Diagnostic yield and impact on neuronal ceroid lipofuscinosis type 2 (CLN2) disease diagnosis

2021-09-01

This study supports comprehensive genetic testing for patients whose first seizure occurs ≥ 24 months of age. It also supports early application of testing in this age group, as the identified diagnoses can have significant impact on patient management and outcome.

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

Unraveling neuronal ceroid lipofuscinosis type 2

2021-06-04

In this study, the majority of the patients presented with late-infantile onset seizures. Despite improved access to enzymatic and molecular testing, there is still a significant diagnostic delay

CLN2

Presymptomatic treatment of classic late-infantile neuronal ceroid lipofuscinosis with cerliponase alfa

2021-05-14

Cerliponase alfa is able to postpone the onset of symptoms when used in the presymptomatic stage of neuronal ceroid lipofuscinosis type 2 (CLN2 disease).

NCL

Neuronal Ceroid Lipofuscinoses in Children

2021-03-01

Neuronal ceroid lipofuscinoses (NCL) is not uncommon and diagnosis can be suspected based on clinical investigations and neuroimaging findings.

CLN2

Mutation update: Review of TPP1 gene variants associated with neuronal ceroid lipofuscinosis CLN2 disease

2019-11-01

Effective CLN2 disease management requires early diagnosis. This article updates on the spectrum of TPP1 variants associated with CLN2 disease.

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