Abstract
Niemann-Pick type C is a neurodegenerative disease, due to lipid storage with intracellular lipid trafficking, due to a deficiency of sphingomyelinase. Although the lesion occurs throughout the central nervous system, certain regions are more susceptible. Gait ataxia, dysarthria, dysphagia, and hepatosplenomegaly are frequent, but dystonia, seizures, progressive dementia, psychiatric syndromes, and gelastic cataplexy can also occur. Vertical saccadic eye movements are often completely lost by the time the disease is diagnosed. Miglustat is currently approved for the treatment of the disease, and the treated patients improve in clinical markers of the disease (ataxia, cognitive impairment, speech difficulties). Approximately 95 % of cases are caused by mutations in the NPC1 gene (type C1) (Table 65.1), and 5 % are caused by mutations in the NPC2 gene (type C2). In older patients, it is important to screen for Niemann-Pick NPC1 gene mutations.
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