Another disorder finds its gene
Open Access
- 13 April 2006
- journal article
- editorial
- Published by Oxford University Press (OUP) in Brain
- Vol. 129 (6) , 1353-1356
- https://doi.org/10.1093/brain/awl132
Abstract
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., 1985; Garborg et al., 1987; Barohn et al., 1992).Keywords
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