Article
Prenatal-onset of congenital neuronal ceroid lipofuscinosis with a novel CTSD mutation.
Birth defects research - 1 Nov 2021
Chartier Suzanne, Boutaud Lucile, Le Guillou Edouard, Alby Caroline, Billon Clarisse, Millischer Anne-Elodie, Caillaud Catherine, Galmiche Louise, Mechler Charlotte, Sonigo Pascale, Boddaert Nathalie, Lyonnet Stanislas, Rondeau Sophie, Bole-Feysot Christine, Masson Cécile, Ville Yves, Roth Philippe, Desguerre Isabelle, Encha-Razavi Férechté, Attie-Bitach Tania
Abstract excerpt
BACKGROUND: Neuronal ceroid lipofuscinoses (NCLs) form a clinically and genetically heterogeneous group of inherited neurodegenerative disorders that share common neuropathological features. Although they are the first cause of neurodegenerative disorders in children, their congenital forms are rarely documented. They are classically due to mutations in the CTSD gene (the CLN10 disease). Affected newborns usually...
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