Genetics of Ischaemic Stroke
Genetics of Ischaemic Stroke
Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL) or Maeda syndrome is caused by mutations in HTRA1 gene localised on ch10q encoding HtrA serine protease 1 (HTRA1) that represses signalling mediated by the transforming growth factor-β family. Prevalence rates are lower than CADASIL, although it is probably more frequent than the few dozen currently reported cases, which to-date have only been described from Japan and China. CARASIL presents itself in the 20s and 30s with ischaemic stroke, dementia, premature baldness and attacks of severe lower back pain or disk herniation. Brain MRI shows diffuse white matter changes and multiple lacunar infarctions in the basal ganglia and thalamus. Histopathologically, arteriosclerosis is seen in the penetrating arteries in the absence of granular osmiophilic or amyloid material. Patients with CARASIL are also less likely to have migraines and exhibit psychiatric disorders, such as euphoria and emotional liability.
Carasil
Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL) or Maeda syndrome is caused by mutations in HTRA1 gene localised on ch10q encoding HtrA serine protease 1 (HTRA1) that represses signalling mediated by the transforming growth factor-β family. Prevalence rates are lower than CADASIL, although it is probably more frequent than the few dozen currently reported cases, which to-date have only been described from Japan and China. CARASIL presents itself in the 20s and 30s with ischaemic stroke, dementia, premature baldness and attacks of severe lower back pain or disk herniation. Brain MRI shows diffuse white matter changes and multiple lacunar infarctions in the basal ganglia and thalamus. Histopathologically, arteriosclerosis is seen in the penetrating arteries in the absence of granular osmiophilic or amyloid material. Patients with CARASIL are also less likely to have migraines and exhibit psychiatric disorders, such as euphoria and emotional liability.
Source...