ANGPTL6 genetic variants are an underlying cause of familial intracranial aneurysms

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Genetic Variants Underlying Risk of Intracranial Aneurysms: Insights from a GWAS in Portugal

Subarachnoid hemorrhage (SAH) is a life-threatening event that most frequently leads to severe disability and death. Its most frequent cause is the rupture of a saccular intracranial aneurysm (IA), which is a blood vessel dilation caused by disease or weakening of the vessel wall. Although the genetic contribution to IA is well established, to date no single gene has been unequivocally identifi...

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Familial intracranial aneurysms.

BACKGROUND We set out to determine the prevalence of incidental intracranial aneurysms in first-degree relatives aged 30 years or more of people with intracranial aneurysms, and to see if polycystic kidney disease contributes to the aggregation of familial intracranial aneurysms. METHODS 91 families with two or more affected members had previously been identified from a 14 year series of 1150...

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Familial intracranial aneurysms.

We describe a 53-year-old mother and a her 34-year-old son who suffered from spontaneous subarachnoid hemorrhage (SAH) and/or intracerebral hemorrhage due to a ruptured intracranial aneurysm. Diagnosis of the intracranial aneurysm was made by CT scan of the brain, and cerebral angiography. These two cases received surgical intervention and returned to their previous social activity after discha...

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Familial intracranial aneurysms. A review.

BACKGROUND A familial occurrence of intracranial aneurysms is defined by the presence of such aneurysms in two or more first to third-degree family members. Families with two affected members may represent accidental aggregation. Other families show a frequency compatible with an autosomal dominant mode of inheritance. A genetic basis is also suggested by the younger average age of familial cas...

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Familial intracranial aneurysms: an analysis of 346 multiplex Finnish families.

BACKGROUND AND PURPOSE Genetic risk factors are considered important in the development, growth, and rupture of intracranial aneurysms; however, few have been identified. We analyzed intracranial aneurysm families with at least 2 affected persons and determined relationships between affected persons and assessed the inheritance patterns of aneurysms. METHODS Families with > or =2 members with...

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ژورنال

عنوان ژورنال: Neurology

سال: 2020

ISSN: 0028-3878,1526-632X

DOI: 10.1212/wnl.0000000000011125