Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
8259599 | Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease | 2015 | 26 Pages |
Abstract
1) The study confirmed NCL disease in 122 subjects. Phenotypic studies comprised epileptic seizures and movement disorders, ophthalmology, neurophysiology, image analysis, rating scales, enzyme testing, and electron microscopy, carried out under a consensus algorithm; 2) DNA screening and validation of mutations in genes PPT1 (CLN1), TPP1 (CLN2), CLN3, CLN5, CLN6, MFSD8 (CLN7), and CLN8: characterization of variant types, novel/known mutations and polymorphisms; 3) Progress of the epidemiological picture in Latin America; and 4) NCL-like pathology studies in progress. The Translational Research Program was highly efficient in addressing the misdiagnosis/underdiagnosis in the NCL disorders. The study of “orphan diseases” in a public administrated hospital should be adopted by the health systems, as it positively impacts upon the family's quality of life, the collection of epidemiological data, and triggers research advances. This article is part of a Special Issue entitled: “Current Research on the Neuronal Ceroid Lipofuscinoses (Batten Disease)”.
Keywords
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Authors
Romina Kohan, Favio Pesaola, Norberto Guelbert, Patricia Pons, Ana MarÃa Oller-RamÃrez, Gisela Rautenberg, Adriana Becerra, Katherine Sims, Winnie Xin, Inés Adriana Cismondi, Inés Noher de Halac,