Effect of early optic canal unroofing on the outcome of visual functions in surgery for meningiomas of the tuberculum sellae and planum sphenoidale.

Objective: The aim of this study was to evaluate the effect of early optic canal unroofing on visual function in patients with meningiomas of the tuberculum sellae and planum sphenoidale.

Methods: We retrospectively reviewed the clinical records of 20 consecutive patients with tuberculum sellae meningiomas and two patients with planum sphenoidale meningiomas who were admitted to our institution from 1999 to 2007. Factors that may influence postoperative visual functions were analyzed, including patient's age and sex, duration of preoperative visual symptoms, preoperative visual acuity, tumor size, tumor consistency, tumor extension into the optic canal, tumor adhesion to the optic nerve, timing of optic canal unroofing, and tumor resection rate.

Combination of linkage and association studies for brain arteriovenous malformation.

Background And Purpose: Genetic factors for brain arteriovenous malformation are unexplored because of the low incidence of familial cases, albeit local and familial clustering. We used a combination of a linkage study and an association study to explore the genetic background.

Methods: A genome-wide linkage analysis was performed in 12 patients from 6 unrelated families using the GENEHUNTER program.

Model-based linkage analyses confirm chromosome 19q13.3 as a susceptibility locus for intracranial aneurysm.

Background And Purpose: In previous studies of familial intracranial aneurysm (IA), parametric linkage analyses have been undertaken for five unrelated families, four providing maximum logarithm of odds (LOD) scores with dominant models and one with a recessive model. Each family was linked to a distinct locus, indicating locus heterogeneity. This study aimed to examine whether Japanese IA families consistent with autosomal-dominant mode of inheritance support linkage to these loci.

Search on chromosome 17 centromere reveals TNFRSF13B as a susceptibility gene for intracranial aneurysm: a preliminary study.

Background: Our previous studies have shown a significant linkage of intracranial aneurysms (IAs) to chromosome 17.

Methods And Results: Nine genes (TNFRSF13B, M-RIP, COPS3, RAI1, SREBF1, GRAP, MAPK7, MFAP4, and AKAP10) were selected from 108 genes that are located between D17S1857 and D17S1871 by excluding 99 genes that were pseudogenes, hypothetical genes, or well-characterized genes but not likely associated with IA. Direct sequencing of all coding and regulatory regions in 58 cases (29 pedigree probands and 29 unrelated nonpedigree cases) was performed.

Association analysis of common variants of ELN, NOS2A, APOE and ACE2 to intracranial aneurysm.

Background And Purpose: Previous studies have shown positive evidence of linkage of the intracranial aneurysm (IA) at chromosome 7q11, 17cen, 19q13, and Xp22. These regions contain elastin (ELN), nitric oxide synthetase 2A (NOS2A), apolipoprotein E (APOE), and angiotensin-I converting enzyme 2 (ACE2), which are considered to be promising candidate genes for IA. We aimed to examine the association of single-nucleotide polymorphisms (SNPs) with IA in these candidate genes.