| A CLN5 mutation causing an atypical neuronal ceroid lipofuscinosis of juvenile onset (2005) | |||||||||
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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 | |||||||||
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