Related Experiment Video
Updated: Mar 17, 2026
05:12
Induction and Micro-CT Imaging of Cerebral Cavernous Malformations in Mouse Model
Published on: September 4, 2017
11.4K
Cerebral cavernous malformations with diffuse manifestation: A benign entity?
Satoshi Tsutsumi1, Ikuko Ogino2, Masakazu Miyajima2
1Department of Neurological Surgery, Juntendo University Urayasu Hospital, Urayasu, Chiba, Japan.
Journal of the Neurological Sciences
|July 18, 2016
Summary
Diffuse cerebral cavernous malformations (CCMs) are a hereditary cerebrovascular disease. These CCMs show a satisfactory prognosis with no neurological deterioration observed in a 13.7-year follow-up.
Area of Science:
- Neurology
- Genetics
- Vascular Biology
Background:
- Cerebral cavernous malformations (CCMs) represent a specific cerebrovascular disorder.
- A subset of CCMs exhibits diffuse patterns across the brain and brainstem.
Purpose of the Study:
- To investigate the clinical characteristics of diffuse cerebral cavernous malformations (CCMs).
Main Methods:
- Magnetic resonance (MR) imaging was used to assess CCM appearance.
- Polymerase chain reaction (PCR) identified genetic mutations.
- Long-term follow-up evaluated disease progression in 10 patients with diffuse CCMs.
Main Results:
- Patients presented with varied symptoms including seizures, headache, hemorrhage, numbness, and dizziness; two were asymptomatic.
- Genetic analysis identified mutations in CCM1 (4 patients), CCM2 (3 patients), and CCM3 (1 patient).
- No neurological deterioration or symptomatic hemorrhage occurred during a mean 13.7-year follow-up; MR imaging showed stable CCM appearance in most patients.
Conclusions:
- Diffuse CCMs are a hereditary condition with a favorable prognosis.
- Potential involvement of unidentified genomic mutations in the development of these CCMs warrants further investigation.
