Neuronal Ceroid Lipofuscinosis Type 2: A Case Series from Argentina

Abstract Neuronal ceroid lipofuscinosis type 2 (CLN2) disease is a rare autosomal recessive neurodegenerative disorder caused by mutations in the CLN2/TPP1 gene, leading to a deficiency in tripeptidyl peptidase 1 activity. Enzyme replacement therapy with cerliponase alfa (recombinant human TPP1 [rhT...

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Bibliographic Details
Published in:Journal of inborn errors of metabolism and screening 2022, Vol.10
Main Authors: Guelbert, Guillermo, Guelbert, Norberto
Format: Article
Language:English
Subjects:
cerliponase alfa
CLN
GENETICS & HEREDITY
Neuronal ceroid lipofuscinosis
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Summary:Abstract Neuronal ceroid lipofuscinosis type 2 (CLN2) disease is a rare autosomal recessive neurodegenerative disorder caused by mutations in the CLN2/TPP1 gene, leading to a deficiency in tripeptidyl peptidase 1 activity. Enzyme replacement therapy with cerliponase alfa (recombinant human TPP1 [rhTPP1]; Brineura®) was approved in the United States and Europe for the treatment of CLN2 disease in 2017. We retrospectively report a cohort of 19 patients with CLN2 assisted in a specialized center in Argentina, including 8 newly diagnosed cases. Speech disorders and white matter changes/ventricular system enlargement were the most frequent clinical and imaging findings at CLN2 disease onset, respectively. Patients treated with cerliponase alfa presented a stable or improved course of the disease in this Latin American real world setting, as described in clinical trials.
ISSN:2326-4594
2326-4594
DOI:10.1590/2326-4594-jiems-2022-0001