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Published on: June 15, 2020
Genetically determined vascular diseases
1Neuromuscular Unit, Medical Research Centre, PASci, Warszawa.
Insights
Genetically determined blood vessel diseases can cause familial conditions resembling Binswanger's disease, leading to progressive neurological symptoms and dementia due to brain tissue damage.
Area of Science:
- Neurology
- Genetics
- Vascular Medicine
Background:
- Genetically determined blood vessel diseases are a significant cause of neurological disorders.
- These conditions can manifest as familial forms of leukoencephalopathy, mimicking Binswanger's disease.
- Literature review highlights various inherited vascular disorders affecting the brain.
Purpose of the Study:
- To review and synthesize literature data on genetically determined blood vessel diseases.
- To describe their association with familial leukoencephalopathy and Binswanger's disease-like processes.
- To outline the clinical and pathological features of described genetic cerebrovascular disorders.
Main Methods:
- Comprehensive literature review of genetically determined blood vessel diseases.
- Analysis of studies describing familial cerebrovascular disorders and leukoencephalopathy.
- Synthesis of information on conditions such as Moyamoya disease, CADASIL, and others.
Main Results:
- Genetically determined vascular diseases can lead to familial, Binswanger's disease-like conditions.
- These disorders result in recurrent transient ischemic attacks, strokes, and varied brain tissue damage, primarily in white matter.
- Progressive neurological deficits and dementia are characteristic of familial subcortical leukoencephalopathy.
Conclusions:
- Genetic factors play a crucial role in the pathogenesis of certain cerebrovascular diseases.
- Early recognition and understanding of these inherited conditions are vital for diagnosis and management.
- Further research into the genetic basis of these disorders can improve therapeutic strategies.
Abstract:
Review of literature data concerning genetically determined blood vessel diseases is presented. These disorders are a cause of a process similar to Binswanger's disease but occurring familial. Recurrent TIA, ischemic strokes and other kind of blood supply disturbances lead to numerous and various intensity vasogenic brain tissue damage, particularly in the white matter. Progressive neurological symptoms and dementia form the picture of subcortical leukoencephalopathy in several members of family. Moyamoya disease, fibromuscular dysplasia, hereditary hemorrhagic telangiectasia, hereditary cerebral hemorrhage with amyloidosis, pseudoxanthoma elasticum, two types of subcortical encephalopathy in Japan, HERNS and CADASIL are described.
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