Rupture of an intracranial aneurysm, an outpouching or sac-like widening of a cerebral artery, leads to a subarachnoid hemorrhage, a sudden-onset disease that can lead to severe disability and death. Several risk factors such as smoking, hypertension, and ... Rupture of an intracranial aneurysm, an outpouching or sac-like widening of a cerebral artery, leads to a subarachnoid hemorrhage, a sudden-onset disease that can lead to severe disability and death. Several risk factors such as smoking, hypertension, and excessive alcohol intake are associated with subarachnoid hemorrhage (review by Krischek and Inoue, 2006). - Genetic Heterogeneity of Intracranial Berry Aneurysm Intracranial berry aneurysm-1 (ANIB1) has been mapped to chromosome 7q11.2. Other mapped loci for intracranial berry aneurysm include ANIB2 (608542) on chromosome 19q13, ANIB3 (609122) on 1p36.13-p34.3, ANIB4 (610213) on 5p15.2-14.3, ANIB5 (300870) on Xp22, ANIB6 (611892) on 9p21, ANIB7 (612161) on 11q24-q25, ANIB8 (612162) on 14q23, ANIB9 (612586) on 2q, ANIB10 (612587) on 8q, and ANIB11 (614252) on 8p22.
Ullrich and Sugar (1960) reported 4 families, in each of which 2 members had cerebral aneurysms. McKusick (1964) observed a 34-year-old man and his 13-year-old daughter, both of whom died of intracranial berry aneurysm. Graf (1966) reported 2 ... Ullrich and Sugar (1960) reported 4 families, in each of which 2 members had cerebral aneurysms. McKusick (1964) observed a 34-year-old man and his 13-year-old daughter, both of whom died of intracranial berry aneurysm. Graf (1966) reported 2 pairs of affected sibs. Beumont (1968) described 3 affected sisters. Thierry et al. (1972) reviewed 10 reports and documented autosomal dominant inheritance. Edelsohn et al. (1972) reported a family with affected father and 3 affected daughters and an affected son. Brisman and Abbassioun (1971) raised the question of prophylactic investigations in a family with a high frequency of mortality from ruptured aneurysms. Toglia and Samii (1972) suggested that familial aneurysms may have favored locations and that multiple aneurysms may be more often familial than are single aneurysms. They reported 2 families: 2 black sisters and 2 white brothers with intracranial aneurysms. One sister, aged 38, developed 6 intracranial aneurysms, the largest at the left middle cerebral artery. Her sister suffered an aneurysm at the right anterior cerebral artery at age 43. In the second family, a 31-year-old male developed an aneurysm at the bifurcation of the basilar artery. His brother, at age 34, developed an aneurysm at the same site, as well as a smaller one at the left middle cerebral artery. Their father died of a subarachnoid hemorrhage at age 39. Berry aneurysm appears to have a lower frequency in blacks than in whites in the US and elsewhere. Intracranial aneurysm occurs in some cases of polycystic kidney disease (Jankowicz et al., 1971) and with coarctation of the aorta (120000). Bromberg et al. (1995) found a higher relative risk for poor outcome in patients with familial subarachnoid hemorrhage from those of sporadic cases. Of their 14 families, 2 were segregating autosomal dominant polycystic kidney disease (see 173900). The mean age of subarachnoid hemorrhage in familial cases in their series was 44.7 years compared to 53.4 years in sporadic cases. The authors recommended screening individuals at risk for familial intracranial aneurysms with catheter and angiography between the ages of 40 and 60 and with MR angiography between the ages of 20 and 70.