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Neurology. 2005 Feb 22;64(4):740-2.

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

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  • 1Genetica Molecular, Facultad de Medicina, Universidad de Antioquia, Medellin, Colombia.


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.

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