Abstract
Niemann-Pick disease type C is a rare and fatal inherited autosomal recessive disease caused by mutations in either the NPC1 or NPC2 genes and leads to the inhibition of unesterified cholesterol glycosphingolipids transport and intracellular accumulation in the brain, liver and spleen. Disease affects both infants and adults with neurological symptoms varying with age of onset.
Symptoms include mental retardation, gait problems, cataplexy and ataxia with the most common characteristic being vertical supranuclear gaze palsy. People suffering from Niemann-Pick disease presenting with neuropsychiatric symptoms in combination with delayed onset are often misdiagnosed as other major psychiatric disorders and may thus be prescribed inappropriate treatments.
Non-motor signs often precede the first notable clinical motor symptoms in adult Niemann-Pick disease including neuropsychiatric illness in the form of schizophrenia-like psychotic disorders, hallucinations or/and aggressive behaviours. Improved awareness of Niemann-Pick disease and its symptoms among clinicians is essential for better disease detection, since patients diagnosed with chronic psychiatric illness and concomitant neurological impairments managed with antipsychotic drugs may have this disease.