Abstract Niemann-Pick Type C (NPC) is a progressive and life limiting autosomal recessive
disorder caused by mutations in either the NPC1 or NPC2 gene. Mutations in these genes …

Abstract Niemann-Pick C disease (NP-C) is a neurovisceral atypical lysosomal lipid storage
disorder with an estimated minimal incidence of 1/120 000 live births. The broad clinical …

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) …

Summary Background Niemann-Pick type C disease (NPC) is an inherited
neurodegenerative disorder characterised by an intracellular lipid-trafficking defect with …

Psychiatric disorders like mood disorders, schizophrenia, or drug addiction affect a sizeable
proportion of the human population and severely compromise quality of life. Therefore …

Niemann–Pick disease type C (NPC) is a fatal neurovisceral lipid storage disease of
autosomal inheritance resulting from mutations in either the NPC1 (95% of families) or …

Abstract Background Niemann-Pick disease type C (NP-C) is a rare neurovisceral disease
characterized by progressive neurodegeneration and premature death. We report data …

BackgroundFew studies have investigated the relationship between schizophrenia and
frontotemporal dementia. AimsTo investigate this relationship through a clinicopathological …

Niemann‐Pick type C (NPC) disease is a fatal autosomal recessive disorder characterized
by the accumulation of free cholesterol and glycosphingolipids in the endosomal‐lysosomal …

A number of metabolic disorders that affect the central nervous system can present in
childhood, adolescence or adulthood as a phenocopy of a major psychiatric syndrome such …