Cathepsin D deficiency
Definition:
Cathepsin D deficiency underlies congenital neuronal ceroid-lipofuscinosis (NCL). It represents the earliest-onset and the most aggressive form of the NCL, leading to extreme brain atrophy and death soon after birth. Cathepsin D is a lysosomal protein encoded by the CTSD gene. Recently, novel mutations in CTSD with a juvenile onset of NCL have been reported.
References:
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[1]. Eija Siintola, et al. Cathepsin D deficiency underlies congenital human neuronal ceroid-lipofuscinosis. Brain. 2006 Jun;129(Pt 6):1438-45. [Content Brief]
[2]. Joshua Hersheson, et al. Cathepsin D deficiency causes juvenile-onset ataxia and distinctive muscle pathology. Neurology. 2014 Nov 11;83(20):1873-5. [Content Brief]
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