MRI diagnosis of Alexander disease
Alexander disease (fibrinoid leucodystrophy; originally described by Alexander in 1949) is a rare, fatal, nonfamilial leucoencephalopathy caused by astrocyte dysfunction characterised by missense mutation in the genes coding for glial fibrillary acidic protein(GFAP). It typically presents with front...
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| Format: | Article |
| Language: | English |
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AOSIS
2012-09-01
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| Series: | South African Journal of Radiology |
| Subjects: | |
| Online Access: | https://sajr.org.za/index.php/sajr/article/view/296 |
| _version_ | 1818606994933678080 |
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| author | C G Muralidharan R P S Tomar R Aggarwal |
| author_facet | C G Muralidharan R P S Tomar R Aggarwal |
| author_sort | C G Muralidharan |
| collection | DOAJ |
| description | Alexander disease (fibrinoid leucodystrophy; originally described by Alexander in 1949) is a rare, fatal, nonfamilial leucoencephalopathy caused by astrocyte dysfunction characterised by missense mutation in the genes coding for glial fibrillary acidic protein(GFAP). It typically presents with frontal preponderance of white matter abnormalities and macroencephaly. We report a case of leucoencephalopathy with macroencephaly that shows characteristic MRI features of Alexander disease. |
| first_indexed | 2024-12-16T14:19:42Z |
| format | Article |
| id | doaj.art-814c2578e1bf4c06b0e24bc851e285ae |
| institution | Directory Open Access Journal |
| issn | 1027-202X 2078-6778 |
| language | English |
| last_indexed | 2024-12-16T14:19:42Z |
| publishDate | 2012-09-01 |
| publisher | AOSIS |
| record_format | Article |
| series | South African Journal of Radiology |
| spelling | doaj.art-814c2578e1bf4c06b0e24bc851e285ae2022-12-21T22:28:32ZengAOSISSouth African Journal of Radiology1027-202X2078-67782012-09-0116311611710.4102/sajr.v16i3.296296MRI diagnosis of Alexander diseaseC G Muralidharan0R P S Tomar1R Aggarwal2MH JalandharMH JalandharAF Hospital, HalwaraAlexander disease (fibrinoid leucodystrophy; originally described by Alexander in 1949) is a rare, fatal, nonfamilial leucoencephalopathy caused by astrocyte dysfunction characterised by missense mutation in the genes coding for glial fibrillary acidic protein(GFAP). It typically presents with frontal preponderance of white matter abnormalities and macroencephaly. We report a case of leucoencephalopathy with macroencephaly that shows characteristic MRI features of Alexander disease.https://sajr.org.za/index.php/sajr/article/view/296Macroencephaly, Leucoencephalopathy, Frontal preponderance, Periventricular rim, Cystic cavitation |
| spellingShingle | C G Muralidharan R P S Tomar R Aggarwal MRI diagnosis of Alexander disease South African Journal of Radiology Macroencephaly, Leucoencephalopathy, Frontal preponderance, Periventricular rim, Cystic cavitation |
| title | MRI diagnosis of Alexander disease |
| title_full | MRI diagnosis of Alexander disease |
| title_fullStr | MRI diagnosis of Alexander disease |
| title_full_unstemmed | MRI diagnosis of Alexander disease |
| title_short | MRI diagnosis of Alexander disease |
| title_sort | mri diagnosis of alexander disease |
| topic | Macroencephaly, Leucoencephalopathy, Frontal preponderance, Periventricular rim, Cystic cavitation |
| url | https://sajr.org.za/index.php/sajr/article/view/296 |
| work_keys_str_mv | AT cgmuralidharan mridiagnosisofalexanderdisease AT rpstomar mridiagnosisofalexanderdisease AT raggarwal mridiagnosisofalexanderdisease |