Neuronal Ceroid Lipofuscinosis Type 2: A Case Series from Argentina
J. inborn errors metab. screen
;
10: e20220001, 2022. tab, graf
Article
Dans Anglais
|
LILACS-Express
| LILACS
| ID: biblio-1386083
ABSTRACT
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.
Texte intégral:
Disponible
Indice:
LILAS (Amériques)
Pays comme sujet:
Amérique du Sud
/
Argentine
langue:
Anglais
Texte intégral:
J. inborn errors metab. screen
Thème du journal:
Medicina Cl¡nica
/
Patologia
Année:
2022
Type:
Article
Pays d'affiliation:
Argentine
Institution/Pays d'affiliation:
Hospital de Niños de la Santísima Trinidad/AR
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