Cranial CT and MRI in diseases with DNA repair defects
- 1 January 1992
- journal article
- research article
- Published by Springer Nature in Neuroradiology
- Vol. 34 (2) , 117-121
- https://doi.org/10.1007/bf00588156
Abstract
Summary The CT and MRI appearances of 5 patients with Cockayne's syndrome, 5 with ataxia telangiectasia and 1 with Fanconi's anaemia are reported. These conditions, together with Bloom's syndrome and xeroderma pigmentosum are regarded as disorders of DNA repair. Characteristic CT and MRI features of Cockayne's syndrome include generalised atrophy, calcification in basal ganglia and dentate nuclei and white matter low density. Neuroradiological findings in the other DNA repair disorders are nonspecific.Keywords
This publication has 17 references indexed in Scilit:
- High field MR imaging of the brain in pseudohypoparathyroidismNeuroradiology, 1990
- CAMFAK syndrome: A demyelinating inherited disease similar to Cockayne syndromeAmerican Journal of Medical Genetics, 1989
- EEG and CT abnormalities in xeroderma pigmentosumActa Neurologica Scandinavica, 1989
- MRI in Cockayne syndrome type INeuroradiology, 1989
- Early onset Cockayne's syndrome: case reports with neuropathological and fibroblast studies.Journal of Medical Genetics, 1989
- Cockayne’s DiseasePublished by Springer Nature ,1989
- Cockayne syndrome: MRI correlates of hypomyelinationPediatric Neurology, 1988
- Review: Diseases with DNA Damage-Processing DefectsThe Lancet Healthy Longevity, 1988
- Cockayne syndrome: Magnetic resonance images of the brain in a severe form with early onsetJournal of Inherited Metabolic Disease, 1987
- Cockayne syndrome: Unusual neuropathological findings and review of the literatureAnnals of Neurology, 1979