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Elevated homocysteine and N-methyl-d-aspartate-receptor antibodies as a cause of behavioural and cognitive decline in 22q11.2 deletion syndrome.

Abstract:

A 19-year-old male with 22q11.2 deletion syndrome presented with a 4-year history of cognitive decline and symptoms suggestive of atypical psychosis. Potential for elevated homocysteine and NMDA-receptor antibodies in the pathogenesis of his symptoms was investigated. He had elevated blood homocysteine level (18.7 μmol/l), low-normal vitamin B12 and folate levels and was positive for NMDA-receptor antibodies. Treatment with daily folinic acid (0.8 mg) and vitamin B12 (1 mg) led to dramatic im...

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Publication status:
Published
Peer review status:
Peer reviewed
Version:
Publisher's version

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Publisher copy:
10.1093/omcr/omx076

Authors


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Role:
Author
ORCID:
0000-0003-4721-6282
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Institution:
University of Oxford
Division:
Medical Sciences Division
Department:
Pharmacology
Role:
Author
More by this author
Institution:
University of Oxford
Division:
Medical Sciences Division
Department:
Psychiatry
Oxford college:
All Souls College
Role:
Author
Publisher:
Oxford University Press Publisher's website
Journal:
Oxford Medical Case Reports Journal website
Volume:
2017
Issue:
12
Pages:
omx076
Publication date:
2017-12-05
Acceptance date:
2017-09-29
DOI:
EISSN:
2053-8855
ISSN:
2053-8855
Pubs id:
pubs:817220
URN:
uri:f70e05af-4fd5-4645-9077-762762622a2e
UUID:
uuid:f70e05af-4fd5-4645-9077-762762622a2e
Local pid:
pubs:817220
Language:
English
Keywords:

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