On the inheritance of intracranial aneurysms.

Abstract

Background and PurposeThe familial occurrence of intracranial aneurysms suggests the presence of a genetically determined underlying arteriopathy. The pattern of inheritance in these families usually is not known.Methods A family with seven members with intracranial aneurysms is described and, from the literature before 1994, a total of 238 families with 560 affected members (56% female and 44% male) with intracranial aneurysms not associated with a known heritable disease are reviewed. A segregation analysis was performed on 73 of these families.Results Two members were affected in the great majority of families (79%); five or more members were reported in only eight families (3%). The most common affected kinship was among siblings. Angiographic screening in 12 families detected an intracranial aneurysm in 29% of 51 asymptomatic relatives. Segregation analysis revealed several patterns of inheritance

Anticipation in familial intracranial aneurysms in consecutive generations

“…More than 75% of all IA families do not show affected individuals in consecutive generations. 7 The number of affected children keeps far from the 50% affected offspring as is observed in AD diseases. In our study, 40 of the 50 families did not show affected individuals in consecutive generations (data not shown).…”

“…3 Over 200 families have been described since the first report on the familial occurrence of IA was presented by Chambers in 1954. 7,8 Segregation analysis did not reveal one mode of inheritance, both autosomal recessive (AR) and autosomal dominant (AD) patterns of inheritance have been described. 7,9 In our study, we included only families with at least two relatives in two consecutive generations affected by IA.…”

“…7,8 Segregation analysis did not reveal one mode of inheritance, both autosomal recessive (AR) and autosomal dominant (AD) patterns of inheritance have been described. 7,9 In our study, we included only families with at least two relatives in two consecutive generations affected by IA. Anticipation was studied only in families with SIA in consecutive generations.…”

Utah Population Database: a tool to study the hereditary element of nonsyndromic neurosurgical diseases

“…A familial nature of aneurysms has been recognized, 9,14,15 but extensive genealogical data are often missing from these studies, which are generally limited to nuclear family members. In 2003, Cannon-Albright et al 7 used the UPDB to look at the heritable predisposition to aneurysms, examining all 3 specific phenotypes: intracranial, aortic, and other locations.…”

Familial Association of Basilar Bifurcation Aneurysm and Moyamoya Disease-Four Case Reports-

“…13) The frequency of familial aneurysm among patients with SAH is 7% to 20%. [14][15][16] Asymptomatic relatives of patients with familial intracranial aneurysm have a high risk of SAH and of harboring an unruptured aneurysm. The relative risk of harboring unruptured aneurysms is 4.2 times higher in first-degree relatives of people with familial intracranial aneurysms than in the general population.…”