What do we do
Neuronal Ceroid Lipofuscinosis in South America and the Caribbean (from: Guelbert, G. .....Pesaola, F. et. al. Frontiers in Neurology 2022, 13: 920421)
100%
Phenotypic and genotypic studies of 261 individuals in South America and the Caribbean
87%
Age of onset <10
51%
seizures
16%
Delay or lack of language
15%
Motor impairment, ataxia
11%
visual deficit
100%
Descripción de 60 variantes genéticas en 120 individuos
17%
Córdoba cohort 44/261 individuals
48%
Estudios genómicos
2%
CLN1
57%
CLN2
13%
CLN3
2%
CLN5
14%
CLN6
3%
CLN7
2%
CLN8
1%
CLN11
6%
