A CLN5 mutation causing an atypical neuronal ceroid lipofuscinosis of juvenile onset

N. Pineda-Trujillo, W. Cornejo, J. Carrizosa, R. B. Wheeler, S. Múnera, A. Valencia, J. Agudelo-Arango, A. Cogollo, G. Anderson, G. Bedoya, S. E. Mole, Andres Ruíz-Linares

Research output: Contribution to journalArticle in an indexed scientific journalpeer-review

45 Scopus citations

Abstract

Three related patients from Colombia presented with a juvenile-onset neuronal ceroid lipofuscinosis. Electron microscopy of one case showed condensed fingerprint profiles, and genetic analyses identified a novel missense mutation in CLN5. The authors demonstrate the existence of pathogenic CLN5 mutations outside northern Europe and that mutations in this gene can lead to an atypical late-onset neuronal ceroid lipofuscinosis disease, in addition to the late infantile form first described in Finland.

Original languageEnglish
Pages (from-to)740-742
Number of pages3
JournalNeurology
Volume64
Issue number4
DOIs
StatePublished - 22 Feb 2005
Externally publishedYes

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