| dc.contributor.author | Banerjee, Subimal | |
| dc.contributor.author | Lennox, Belinda | |
| dc.date.accessioned | 2018-10-10T12:11:36Z | |
| dc.date.available | 2018-10-10T12:11:36Z | |
| dc.date.issued | 2017-12 | |
| dc.identifier.citation | Simon Vann Jones, Subimal Banerjee, A David Smith, Helga Refsum, Belinda Lennox; Elevated homocysteine and N-methyl-D-aspartate-receptor antibodies as a cause of behavioural and cognitive decline in 22q11.2 deletion syndrome, Oxford Medical Case Reports, Volume 2017, Issue 12, 1 December 2017, omx076 | en |
| dc.identifier.uri | https://oxfordhealth-nhs.archive.knowledgearc.net/handle/123456789/81 | |
| dc.description | This is an Open Access article under the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/4.0/). Copyright The Authors 2017. | en |
| dc.description.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 improvement in his cognitive and behavioural presentation. Subsequent plasma exchange resulted in a further, significant clinical improvement. Homocysteine levels and NMDA-R antibodies should be investigated as potential causes of behavioural and cognitive symptoms in patients with 22q11.2 deletion syndrome. | en |
| dc.description.uri | https://doi.org/10.1093/omcr/omx076 | |
| dc.language.iso | en | en |
| dc.subject | Psychosis | en |
| dc.subject | Biological Markers | en |
| dc.title | Elevated homocysteine and N-methyl-D-aspartate-receptor antibodies as a cause of behavioural and cognitive decline in 22q11.2 deletion syndrome | en |
| dc.type | Article | en |
