Article
Role of Niemann-Pick Type C Disease Mutations in Dementia.
Journal of Alzheimer's disease : JAD - 1 Jan 2017
Cupidi Chiara, Frangipane Francesca, Gallo Maura, Clodomiro Alessandra, Colao Rosanna, Bernardi Livia, Anfossi Maria, Conidi Maria Elena, Vasso Franca, Curcio Sabrina Anna Maria, Mirabelli Maria, Smirne Nicoletta, Torchia Giusi, Muraca Maria Gabriella, Puccio Gianfranco, Di Lorenzo Raffaele, Zampieri Stefania, Romanello Milena, Dardis Andrea, Maletta Raffaele Giovanni, Bruni Amalia Cecilia
Abstract excerpt
BACKGROUND: Several neurological and systemic diseases can cause dementia, beyond Alzheimer's disease. Rare genetic causes are often responsible for dementia with atypical features. Recently, mutations causative for Niemann-Pick type C disease (NPC) have also been implicated in neurodegenerative diseases. NPC is an autosomal recessive lipid storage disorder caused by mutations in NPC1 and NPC2 genes. In adults,...
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