Mutation in MEOX1 gene causes a recessive Klippel-Feil syndrome subtype.

Background: Klippel-Feil syndrome (KFS) is characterized by the developmental failure of the cervical spine and has two dominantly inherited subtypes. Affected individuals who are the children of a consanguineous marriage are extremely rare in the medical literature, but the gene responsible for this recessive trait subtype of KFS has recently been reported.

Results: We identified a family with the KFS phenotype in which their parents have a consanguineous marriage.

A novel locus for restless legs syndrome on chromosome 13q.

Background: Restless legs syndrome (RLS) is a sensorimotor disorder in which affected individuals suffer from uncomfortable sensations and an urge to move their lower limbs; it occurs mainly in resting situations during the evening or at night. Multiple chromosomal loci have been mapped for RLS through family-based linkage analysis, and genome-wide association studies but causative mutations have not been identified yet.

Method: We identified an RLS family from the eastern part of central Turkey which has 10 patients suffering from this syndrome.

Etanercept treatment enhances clinical and neuroelectrophysiological recovery in partial spinal cord injury.

Purpose: To investigate the effect of an anti-TNF-α agent (etanercept) on recovery processes in a partial spinal cord injury (SCI) model using clinical and electrophysiological tests.

Methods: Twenty-four New Zealand rabbits were divided into three groups: group 1 [SCI + 2 ml saline intramuscular (i.m.

Myelopathy and Quadriparesis due to Spinal Cord Compression of C1 Laminar Osteochondroma.

The aim of this paper is to show that osteochondromas of the cervical vertebrae can cause myelopathy and neck pain.The reported etiology, diagnosis, treatment and differential diagnosis were reviewed. Osteochondromas may present as a solitary lesion with no genetic component or as multiple lesions as a part of a genetic disorder known as hereditary multiple exostosis.

Intracranial arachnoid cyst family with autosomal recessive trait mapped to chromosome 6q22.31-23.2.

Background: Arachnoid cysts are congenital fluid-filled compartments within the cerebrospinal fluid cisterns and cerebral fissures. They most commonly occur sporadically, and familial occurrence has rarely been reported. In this study, we showed the first genetic linkage in the literature in a pure intracranial arachnoid cyst family with autosomal recessive trait.

Clipping of large and giant aneurysms of anterior circulation.

Aim: Surgical outcome for giant intracranial aneurysms (GIA) is suboptimal. Reasons for higher complication rates in large and GIA surgery are the occlusion of perforators or parent arteries during aneurysm clipping, or prolonged temporary occlusion of main arteries. In this article, results of clipping of large and GIAs of anterior circulation are presented.