title: The neuronal ceroid lipofuscinoses program: A translational research experience in Argentina.
abstract: BACKGROUND
  The Argentinean program was initiated more 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.
  
  
  METHODS
  216 NCL suspected individuals from 8 different countries and their direct family members.
  
  
  METHODS
  Clinical assessment, enzyme testing, electron microscopy, and DNA screening.
  
  
  CONCLUSIONS
  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)".
authors.affiliation: Centro de Estudio de las Metabolopatías Congénitas (CEMECO), Facultad de Ciencias Médicas, Universidad Nacional de Córdoba, Ferroviarios 1250, 5014 Córdoba, Argentina; Facultad de Odontología, Universidad Nacional de Córdoba, Haya de la Torre s/n, 5000 Córdoba, Argentina. Electronic address: kohanromina@gmail.com.
authors.forename: Romina
authors.initials: R
authors.lastname: Kohan
authors.affiliation: Centro de Estudio de las Metabolopatías Congénitas (CEMECO), Facultad de Ciencias Médicas, Universidad Nacional de Córdoba, Ferroviarios 1250, 5014 Córdoba, Argentina; Consejo Nacional de Investigaciones Científicas y Técnicas (CONICET), Av. Rivadavia 1917, C1033AAJ CABA, Argentina. Electronic address: favio.pesaola@gmail.com.
authors.forename: Favio
authors.initials: F
authors.lastname: Pesaola
authors.affiliation: Centro de Estudio de las Metabolopatías Congénitas (CEMECO), Facultad de Ciencias Médicas, Universidad Nacional de Córdoba, Ferroviarios 1250, 5014 Córdoba, Argentina. Electronic address: nguelbert@arnet.com.ar.
authors.forename: Norberto
authors.initials: N
authors.lastname: Guelbert
authors.affiliation: Centro de Microscopía Electrónica, Facultad de Ciencias Médicas, Universidad Nacional de Córdoba, Haya de la Torre esq. Enrique Barros, 1º piso, 5000 Córdoba, Argentina. Electronic address: ppons@cmefcm.uncor.edu.
authors.forename: Patricia
authors.initials: P
authors.lastname: Pons
authors.affiliation: Centro de Estudio de las Metabolopatías Congénitas (CEMECO), Facultad de Ciencias Médicas, Universidad Nacional de Córdoba, Ferroviarios 1250, 5014 Córdoba, Argentina. Electronic address: ramirezoller@gmail.com.
authors.forename: Ana María
authors.initials: AM
authors.lastname: Oller-Ramírez
authors.affiliation: Centro de Estudio de las Metabolopatías Congénitas (CEMECO), Facultad de Ciencias Médicas, Universidad Nacional de Córdoba, Ferroviarios 1250, 5014 Córdoba, Argentina. Electronic address: giselarautenberg@hotmail.com.
authors.forename: Gisela
authors.initials: G
authors.lastname: Rautenberg
authors.affiliation: Centro de Estudio de las Metabolopatías Congénitas (CEMECO), Facultad de Ciencias Médicas, Universidad Nacional de Córdoba, Ferroviarios 1250, 5014 Córdoba, Argentina. Electronic address: dra.adrianabecerra@hotmail.com.
authors.forename: Adriana
authors.initials: A
authors.lastname: Becerra
authors.affiliation: Massachussets General Hospital, Neurology Department, Center for Genetic Research [CHGR], Boston, MA 02114, USA. Electronic address: sims@helix.mgh.harvard.edu.
authors.forename: Katherine
authors.initials: K
authors.lastname: Sims
authors.affiliation: Massachussets General Hospital, Neurology Department, Center for Genetic Research [CHGR], Boston, MA 02114, USA. Electronic address: xin@helix.mgh.harvard.edu.
authors.forename: Winnie
authors.initials: W
authors.lastname: Xin
authors.affiliation: Centro de Estudio de las Metabolopatías Congénitas (CEMECO), Facultad de Ciencias Médicas, Universidad Nacional de Córdoba, Ferroviarios 1250, 5014 Córdoba, Argentina; Facultad de Odontología, Universidad Nacional de Córdoba, Haya de la Torre s/n, 5000 Córdoba, Argentina. Electronic address: ines.adriana.cismondi@unc.edu.ar.
authors.forename: Inés Adriana
authors.initials: IA
authors.lastname: Cismondi
authors.affiliation: Centro de Estudio de las Metabolopatías Congénitas (CEMECO), Facultad de Ciencias Médicas, Universidad Nacional de Córdoba, Ferroviarios 1250, 5014 Córdoba, Argentina; Facultad de Odontología, Universidad Nacional de Córdoba, Haya de la Torre s/n, 5000 Córdoba, Argentina; Consejo Nacional de Investigaciones Científicas y Técnicas (CONICET), Av. Rivadavia 1917, C1033AAJ CABA, Argentina. Electronic address: nclcemeco1789@gmail.com.
authors.forename: Inés
authors.initials: I
authors.lastname: Noher de Halac
keywords: Algorithm; DNA variants; Enzymes; Morphology; Neuronal ceroid lipofuscinoses