New Niemann-Pick type C1 gene mutation associated with very severe disease course and marked early cerebellar vermis atrophy.

Abstract excerpt

Niemann-Pick type C is an autosomal recessive lipid storage disease caused by mutations in the NPC1 or NPC2 gene. In childhood-onset Niemann-Pick type C, the usual course is slowly progressive, with normal cerebral magnetic resonance at onset. Here the authors present the case of a patient carrying 2 compound heterozygous NPC1 mutations: the known nonsense mutation (p.Trp833X) in exon 16 and a novel missense...

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