title: Gender dimorphism in siblings with schizophrenia-like psychosis due to Niemann-Pick disease type C.
abstract: We describe the differential presentation of schizophrenia-like psychosis in two siblings with the 'variant' biochemical presentation of adult Niemann-Pick disease type C. The male sibling presented with psychosis at age 16 years and cognitive and motor disturbance at age 25 years, whereas his elder sister, sharing the same mutation but showing less severe biochemical, neuroimaging and ocular motor parameters, presented with a similar schizophrenia-like illness with associated cognitive and motor disturbance at age 31 years. Their illness onset, course and response to treatment mirrors the sex dimorphism seen in schizophrenia, and is suggestive of an interaction between the neurobiology of their metabolic disorder and sex differences in neurodevelopment.
authors.affiliation: Neuropsychiatry Unit, Royal Melbourne Hospital, Royal Melbourne Hospital 3050, Melbourne, Victoria, Australia. walterfang@mh.org.au
authors.forename: M
authors.initials: M
authors.lastname: Walterfang
authors.forename: M
authors.initials: M
authors.lastname: Fietz
authors.forename: L
authors.initials: L
authors.lastname: Abel
authors.forename: E
authors.initials: E
authors.lastname: Bowman
authors.forename: R
authors.initials: R
authors.lastname: Mocellin
authors.forename: D
authors.initials: D
authors.lastname: Velakoulis
mesh_terms: D000293:Adolescent; D000328:Adult; D002352:Carrier Proteins / Q000235:genetics; D005260:Female; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins; D008297:Male; D008562:Membrane Glycoproteins / Q000235:genetics; D009154:Mutation; D000077296:Niemann-Pick C1 Protein; D052556:Niemann-Pick Disease, Type C / Q000150:complications / Q000235:genetics* / Q000523:psychology*; D012559:Schizophrenia / Q000188:drug therapy / Q000209:etiology / Q000235:genetics*; D012565:Schizophrenic Psychology; D012727:Sex Characteristics; D035781:Siblings; D055815:Young Adult
chemical_list: D002352:Carrier Proteins; D047908:Intracellular Signaling Peptides and Proteins; D008562:Membrane Glycoproteins; C106881:NPC1 protein, human; D000077296:Niemann-Pick C1 Protein