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This document summarizes a study of 30 cases of neuronal ceroid lipofuscinoses (NCL) in Argentina between 1985-1993. 24 cases were late infantile Jansky-Bielschowsky (LINCL) and 6 were juvenile Spielmeyer-Vogt (JNCL). Biopsies were taken from various tissues for diagnosis. LINCL cases showed curvilinear storage material and vacuoles, while JNCL showed fingerprint profiles and vacuoles. Inheritance was autosomal recessive. The purpose was to contribute to collaborative research on NCL in a population predomi

Author

Maxime Porco

Language

EN