A novel CLN8 missense mutation underlies variant late infantile neuronal ceroid lipofuscinosis in Latin America

Abstract

Neuronal ceroid lipofuscinosis (NCL), inheritedneurodegenerative diseases of all ages, presents with storage oflipofuscin-like lipopigments in cerebral neurons and peripheraltissues. Mutations in CLN8 gene causing epilepsy progressivewith mental retardation (EPMR) of Scandinavia and late infan-tile variant (vLI) phenotype in other countries had not yet beendescribed in Latin America. The change p.Pro229Ala, found inthe DNA of 2 individuals from Argentina and Mexico, was notvalidated as a mutation.