Elevated homocysteine and N-methyl-d-aspartate-receptor antibodies as a cause of behavioural and cognitive decline in 22q11.2 deletion syndrome.
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 homocyste...
| Main Authors: | , , , , |
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| Format: | Journal article |
| Jezik: | English |
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Oxford University Press
2017
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| _version_ | 1826305531041546240 |
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| author | Jones, S Banerjee, S Smith, AD Refsum, H Lennox, B |
| author_facet | Jones, S Banerjee, S Smith, AD Refsum, H Lennox, B |
| author_sort | Jones, S |
| collection | OXFORD |
| description | 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. |
| first_indexed | 2024-03-07T06:34:15Z |
| format | Journal article |
| id | oxford-uuid:f70e05af-4fd5-4645-9077-762762622a2e |
| institution | University of Oxford |
| language | English |
| last_indexed | 2024-03-07T06:34:15Z |
| publishDate | 2017 |
| publisher | Oxford University Press |
| record_format | dspace |
| spelling | oxford-uuid:f70e05af-4fd5-4645-9077-762762622a2e2022-03-27T12:39:47ZElevated homocysteine and N-methyl-d-aspartate-receptor antibodies as a cause of behavioural and cognitive decline in 22q11.2 deletion syndrome.Journal articlehttp://purl.org/coar/resource_type/c_dcae04bcuuid:f70e05af-4fd5-4645-9077-762762622a2eEnglishSymplectic Elements at OxfordOxford University Press2017Jones, SBanerjee, SSmith, ADRefsum, HLennox, BA 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. |
| spellingShingle | Jones, S Banerjee, S Smith, AD Refsum, H Lennox, B Elevated homocysteine and N-methyl-d-aspartate-receptor antibodies as a cause of behavioural and cognitive decline in 22q11.2 deletion syndrome. |
| title | Elevated homocysteine and N-methyl-d-aspartate-receptor antibodies as a cause of behavioural and cognitive decline in 22q11.2 deletion syndrome. |
| title_full | Elevated homocysteine and N-methyl-d-aspartate-receptor antibodies as a cause of behavioural and cognitive decline in 22q11.2 deletion syndrome. |
| title_fullStr | Elevated homocysteine and N-methyl-d-aspartate-receptor antibodies as a cause of behavioural and cognitive decline in 22q11.2 deletion syndrome. |
| title_full_unstemmed | Elevated homocysteine and N-methyl-d-aspartate-receptor antibodies as a cause of behavioural and cognitive decline in 22q11.2 deletion syndrome. |
| title_short | Elevated homocysteine and N-methyl-d-aspartate-receptor antibodies as a cause of behavioural and cognitive decline in 22q11.2 deletion syndrome. |
| title_sort | elevated homocysteine and n methyl d aspartate receptor antibodies as a cause of behavioural and cognitive decline in 22q11 2 deletion syndrome |
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