INICSA   23916
INSTITUTO DE INVESTIGACIONES EN CIENCIAS DE LA SALUD
Unidad Ejecutora - UE
artículos
Título:
The neuronal ceroid lipofuscinoses program: A translational research experience in Argentina
Autor/es:
ROMINA KOHAN, ; FAVIO PESAOLA, ; NORBERTO GUELBERT, ; PATRICIA PONS, ; ANA MARÍA OLLER-RAMÍREZ, ; GISELA RAUTENBERG, ; ADRIANA BECERRA, ; KATHERINE SIMS, ; WINNIE XINE, ; INÉS ADRIANA CISMONDI, ; INÉS NOHER DE HALAC
Revista:
BIOCHIMICA ET BIOPHYSICA ACTA. MOLECULAR BASIS OF DISEASE
Editorial:
ELSEVIER SCIENCE BV
Referencias:
Lugar: Amsterdam; Año: 2015 vol. 1852 p. 2235 - 2235
ISSN:
0925-4439
Resumen:
Background: The Argentinean programwas initiatedmore than a decade ago as the first experience of systematic translational research focused on NCL in Latin America. The aim was to overcome misdiagnoses and underdiagnoses in the region.Subjects: 216 NCL suspected individuals from 8 different countries and their direct family members. Methods: Clinical assessment, enzyme testing, electron microscopy, and DNA screening.Results and discussion: 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/knownmutations 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)?.
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