Published 2017
“…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. …”
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