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.
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Patients with the same NPC mutation show very different pathological symptoms.
“Interestingly, patients with the same mutation show very different pathological symptoms [36,38].”
From Loss of Mevalonate/Cholesterol Homeostasis in the Brain: A Focus on Autism Spectrum Disorder and Rett Syndrome (2019) · cites this paper as [38]
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References 25 · Cited by 37
- Authors
- Walterfang, M., Fietz, M., Abel, L., Bowman, E., Mocellin, R., & Velakoulis, D.
- Affiliations
- The Royal Melbourne Hospital (AU)
- Women's and Children's Hospital (AU)
- The University of Melbourne (AU)
- Corresponding author
- Walterfang, M.
- Venue
- Journal of Inherited Metabolic Disease
- Publisher
- Wiley
- Published
- 2009-07-17
- Volume
- 32
- Issue
- S1
- Pages
- 221-226
- ISSN
- 0141-8955 (ISSN-L)
- 1573-2665
- OpenAlex
- W2029397111
- Cited by
- 37
- References
- 25
- Citations by year
- 2026: 1 · 2024: 1 · 2023: 2 · 2022: 2 · 2021: 4 · 2020: 3 · 2019: 4 · 2018: 1 · 2017: 3 · 2016: 1 · 2014: 4 · 2013: 2 · 2012: 3
- FWCI
- 1.99
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Journal of Inherited Metabolic Disease (publishedVersion)
- PubMed (publishedVersion)
- Topics
- Health Sciences › Medicine › Physiology › Lysosomal Storage Disorders Research
- Health Sciences › Medicine › Rheumatology › Glycogen Storage Diseases and Myoclonus
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Clinical Biochemistry › Metabolism and Genetic Disorders
- Keywords
- Niemann-Pick disease type C, schizophrenia-like psychosis, sex differences, siblings, cognitive impairment, motor disturbances, eye movement disorders, brain development, lysosomal storage disease
- MeSH terms
- Niemann-Pick C1 Protein, Adolescent, Adult, Carrier Proteins, Female, Humans, Male, Membrane Glycoproteins, Mutation, Schizophrenia, Schizophrenic Psychology, Sex Characteristics, Siblings, Intracellular Signaling Peptides and Proteins, Niemann-Pick Disease, Type C, Young Adult
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