Intracranial familial

Moyamoya seems to be mainly confined to the Japanese and other Asians, and in most cases the cause is unknown (Bruno et al. 1988 Chiu et al. 1998). Some cases are familial (Kitahara et al. 1979) others appear to be caused by a generalized fibrous disorder of arteries (Aoyagi et al. 1996), and a few may result from a congenital hypoplastic anomaly affecting arteries at the base of the brain, or associated with Down s syndrome (Cramer et al. 1996). The syndrome may present in infancy with recurrent episodes of cerebral ischemia and infarction, mental retardation, headache, epileptic seizures and, occasionally, involuntary movements. In adults, subarachnoid or primary intracerebral hemorrhage are also common owing to rupture of collateral vessels. There have also been a few reports of associated intracranial aneurysms (Iwama et al. 1997) and also of cerebral arteriovenous malformations. 

Thrombophilias and other causes of hypercoagulability are rare causes of stroke (Matijevic and Wu 2006). Antithrombin III deficiency, protein C deficiency, activated protein C resistance owing to factor V Leiden mutation, protein S deficiency and plasminogen abnormality or deficiency can all cause peripheral and intracranial venous thrombosis. Thrombosis is usually recurrent and there is often a family history. Thrombophilia may cause arterial thrombosis, although the alternative diagnosis of paradoxical embolism should always be considered in patients with these disorders. It should be noted that deficiencies in any one of the factors associated with thrombophilia may be an incidental finding and cannot necessarily be assumed to be the cause of stroke. 

Intracranial vascular malformations are uncommon, probably congenital, and sometimes familial (Byrne 2005). Those in the dura, draining into the sinuses rather than cerebral veins, can also be caused by skull fracture, craniotomy or dural sinus thrombosis. The overall intracranial vascular malformations detection rate is approximately 3 per 100 000 population per annum and the prevalence is about 20 per 100 000 (Brown et al. 1996). 

Intracranial aneurysms are not congenital but develop over the course of life. Approximately 10% of aneurysms are familial, and candidate genes identified thus far include those coding for the extracellular matrix. Saccular aneurysms tend to occur at branching points on the circle of Willis and proximal cerebral arteries approximately 40% on the anterior communicating artery complex, 30% on the posterior communicating artery or distal internal carotid artery, 20% on the middle cerebral artery and 10% in the posterior... 

ADPKD families haye a strong family history of intracranial artery aneurysm rupture. Hypertension is an early and frequent manifestation and gross hematuria is a common presenting symptom. 

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