Recommendations for the diagnosis and management of Niemann–Pick disease type C: an update
MC Patterson, CJ Hendriksz, M Walterfang… - Molecular genetics and …, 2012 - Elsevier
Niemann–Pick disease type C (NP-C) is a rare inherited neurovisceral disease caused by
mutations in either the NPC1 (in 95% of cases) or the NPC2 gene (in around 5% of cases),
which lead to impaired intracellular lipid trafficking and accumulation of cholesterol and
glycosphingolipids in the brain and other tissues. Characteristic neurological manifestations
of NP-C include saccadic eye movement (SEM) abnormalities or vertical supranuclear gaze
palsy (VSGP), cerebellar signs (ataxia, dystonia/dysmetria, dysarthria and dysphagia) and …
mutations in either the NPC1 (in 95% of cases) or the NPC2 gene (in around 5% of cases),
which lead to impaired intracellular lipid trafficking and accumulation of cholesterol and
glycosphingolipids in the brain and other tissues. Characteristic neurological manifestations
of NP-C include saccadic eye movement (SEM) abnormalities or vertical supranuclear gaze
palsy (VSGP), cerebellar signs (ataxia, dystonia/dysmetria, dysarthria and dysphagia) and …