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Brain 2006 129(6):1353-1356; doi:10.1093/brain/awl132
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© The Author (2006). Published by Oxford University Press on behalf of the Guarantors of Brain. All rights reserved. For Permissions, please email: journals.permissions@oxfordjournals.org

Scientific Commentaries

Another disorder finds its gene

The first 150 words of the full text of this article appear below.

Siintola et al. describe for the first time three patients with a deficiency of the lysosomal aspartyl proteinase cathepsin D (CTSD). In one of these patients, the authors found a mutational inactivation of the cathepsin D gene (CTSD) that encodes CTSD. All the patients described had severe neurological abnormalities at birth including intractable seizures, spasticity, apnoea and microcephaly. This deficiency is proposed as the underlying cause of congenital neuronal ceroid lipofuscinosis (CNCL) (Humphreys et al., 1985Go; Garborg et al., 1987Go; Barohn et al., 1992Go).

Originally described in a sheep model (Tyynela et al., 2000Go, 2001Go) and further corroborated by findings in a canine model (Awano et al., 2006Go), defects in CTSD were considered to be part of the neuronal ceroid lipofuscinoses (NCLs). The ovine model proved to be a feasible tool to study the disease. The . . . [Full Text of this Article]

Denia Ramirez-Montealegre1, Paul G Rothberg4 and David A Pearce

1 Center for Aging and Developmental Biology, Aab Institute of Biomedical Sciences Rochester, NY 14642, USA 2 Department of Biochemistry and Biophysics, University of Rochester School of Medicine and Dentistry Rochester, NY 14642, USA 3 Department of Neurology, University of Rochester School of Medicine and Dentistry Rochester, NY 14642, USA 4 Department of Pathology and Laboratory Medicine, University of Rochester School of Medicine and Dentistry Rochester, NY 14642, USA E-mail: david_pearce@urmc.rochester.edu


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