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Ataxia telangiectasia with long survival.
K Opeskin1, J Waterston, A Nirenberg
1Victorian Institute of Forensic Medicine, 57-83 Kavanagh Street, Southbank, Victoria 3006, Australia.
Summary
This study details a 34-year-old patient with ataxia telangiectasia, revealing novel vascular malformations and corpora amylacea. Magnetic resonance imaging (MRI) showed disease progression in this rare, long-surviving case.
Area of Science:
- Neurology
- Genetics
- Pathology
Background:
- Ataxia telangiectasia (AT) is a rare genetic disorder.
- Most patients do not survive beyond their second decade.
- Central nervous system vascular abnormalities are infrequently reported in AT.
Purpose of the Study:
- To report the case of the longest-surviving patient with ataxia telangiectasia.
- To describe neuropathological findings, including novel observations.
- To present diagnostic magnetic resonance imaging (MRI) findings and their progression.
Main Methods:
- Case presentation of a patient with ataxia telangiectasia.
- Detailed neuropathological examination of brain and spinal cord.
- Analysis of serial magnetic resonance imaging (MRI) scans.
Main Results:
- The patient survived to 34 years, exhibiting vascular malformations, gliosis, and haemosiderin deposition in the central nervous system.
- Numerous corpora amylacea were identified, a previously undescribed finding in AT.
- MRI revealed progressive white matter lesions consistent with vascular malformations and gliosis, alongside cerebellar atrophy.
Conclusions:
- This case represents the longest survival reported for ataxia telangiectasia.
- The findings expand the understanding of neuropathological manifestations in long-term AT survivors.
- MRI is a valuable tool for monitoring disease progression in ataxia telangiectasia.
