The neuronal ceroid lipofuscinoses program: A translational research experience in Argentina

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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 coun...

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Autores principales: Kohan, R., Pesaola, F., Guelbert, N., Pons, P., Oller de Ramirez, A.M., Rautenberg, G., Becerra, A., Sims, K., Xin, W., Cismondi, I.A.
Formato: article
Lenguaje:Inglés
Publicado: Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease. 2017
Materias:
Neuronal ceroid-lipofuscinoses
Algorithms
Anatomy and histology
Enzymes
Acceso en línea:http://hdl.handle.net/11086/4913
Aporte de:
Repositorio Digital Universitario (UNC) de Universidad Nacional de Córdoba
id I10-R14111086-4913
record_format dspace
institution Universidad Nacional de Córdoba
institution_str I-10
repository_str R-141
collection Repositorio Digital Universitario (UNC)
language Inglés
topic Neuronal ceroid-lipofuscinoses
Algorithms
Anatomy and histology
Enzymes
spellingShingle Neuronal ceroid-lipofuscinoses
Algorithms
Anatomy and histology
Enzymes
Kohan, R.
Pesaola, F.
Guelbert, N.
Pons, P.
Oller de Ramirez, A.M.
Rautenberg, G.
Becerra, A.
Sims, K.
Xin, W.
Cismondi, I.A.
The neuronal ceroid lipofuscinoses program: A translational research experience in Argentina
topic_facet Neuronal ceroid-lipofuscinoses
Algorithms
Anatomy and histology
Enzymes
description 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)”
format article
author Kohan, R.
Pesaola, F.
Guelbert, N.
Pons, P.
Oller de Ramirez, A.M.
Rautenberg, G.
Becerra, A.
Sims, K.
Xin, W.
Cismondi, I.A.
author_facet Kohan, R.
Pesaola, F.
Guelbert, N.
Pons, P.
Oller de Ramirez, A.M.
Rautenberg, G.
Becerra, A.
Sims, K.
Xin, W.
Cismondi, I.A.
author_sort Kohan, R.
title The neuronal ceroid lipofuscinoses program: A translational research experience in Argentina
title_short The neuronal ceroid lipofuscinoses program: A translational research experience in Argentina
title_full The neuronal ceroid lipofuscinoses program: A translational research experience in Argentina
title_fullStr The neuronal ceroid lipofuscinoses program: A translational research experience in Argentina
title_full_unstemmed The neuronal ceroid lipofuscinoses program: A translational research experience in Argentina
title_sort neuronal ceroid lipofuscinoses program: a translational research experience in argentina
publisher Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease.
publishDate 2017
url http://hdl.handle.net/11086/4913
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