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NEUROLOGY 2005;64:740-742
© 2005 American Academy of Neurology
Brief Communications

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

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

From the Genetica Molecular (Dr. Ruíz-Linares, N. Pineda-Trujillo, A. Valencia, and G. Bedoya) and Neurologia Infantil (Drs. Cornejo, Carrizosa, and Múnera), Facultad de Medicina, Universidad de Antioquia, Medellin, Colombia; Department of Paediatrics and Child Health (Drs. Wheeler and Mole) and Galton Laboratory, Department of Biology (Dr. Ruíz Linares, N. Pineda-Trujillo), University College London, UK; Hospital San Vicente de Paul (J. Agudelo-Arango), Medellin, Colombia; Instituto de Seguros Sociales (Dr. Cogollo), Cordoba, Colombia; and Histopathology Department (Dr. Anderson), Great Ormond Street Hospital for Children, London, UK.

Address correspondence and reprint requests to Dr. Andres Ruiz-Linares, The Galton Laboratory, Department of Biology (Wolfson House), University College London, 4 Stephenson Way, London NW1 2HE, UK; e-mail: a.ruizlin{at}ucl.ac.uk

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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