Subclinical abnormalities in heterozygote carriers of Niemann-Pick disease type C

Takeaway

  • Asymptomatic heterozygote carriers of Niemann-Pick type C (NPC) disease have abnormal brain glucose metabolism and characteristic features of symptomatic NPC disease.

Why this matters

    Symptoms of NPC disease in heterozygote NPC1 mutation carriers indicate that a NPC1 mutation may be a risk factor for late-onset neurodegeneration.