Ependymomas are glial neoplasms occurring in any location throughout the central nervous system and supposedly are derived from radial glia cells. Recent data suggest that these tumors may have different biological and clinical behaviors according to their location. Pediatric supratentorial and infratentorial ependymoma (SE and IE) were compared with respect to clinical and radiological paramet...

Charcot-Marie-Tooth disease (CMT) is a spectrum of clinically and genetically heterogeneous peripheral neuropathies. CMT can be classified into demyelinating, intermediate, or axonal neuropathy based on clinical, histopathological, electrophysiological findings. Approximately 140 genes have been reported to associated with CMT. Mutations in the myelin protein zero (MPZ), ganglioside-induced dif...

Neurofilaments (NFs) have been shown to be involved in the molecular pathology of numerous neurode-generative human disorders. Recently a set of mutations in the neurofilament light gene (NF-L) was reported in patients suffering from axonal and demyelinating forms of Charcot-Marie-Tooth disease (CMT1 and CMT2). Although a few of the NEFL gene sequence variants have been shown to be rather patho...

BACKGROUND Charcot-Marie-Tooth disease type 2 (CMT2) is a clinically and genetically heterogeneous group of inherited axonal neuropathies. The aim of this study was to extensively investigate the mutational spectrum of CMT2 in a cohort of patients of Han Chinese. METHODOLOGY AND PRINCIPAL FINDINGS Genomic DNA from 36 unrelated Taiwanese CMT2 patients of Han Chinese descent was screened for mu...

Mutations in NEFL encoding the light neurofilament subunit (NFL) cause Charcot-Marie-Tooth disease type 2E (CMT2E), which affects both motor and sensory neurons. We expressed the disease-causing mutants NFL and NFL in motor neurons of dissociated spinal cord-dorsal root ganglia and demonstrated that they are incorporated into the preexisting neurofilament network but eventually disrupt neurofil...

Background: Multiple sclerosis (MS) is a chronic disease characterized by inflammation and degeneration of the central nervous system (CNS). High levels of Neurofilament light chain (NFL) and Neurofilament heavy chain (NFH) in cerebrospinal fluid (CSF) have been associated with a wide range of neurological diseases including MS. Subjects and methods: Peripheral blood samples were collected from...

The neurofilament light chain (NF-L) is a major constituent of intermediate filaments and plays a pivotal function in the assembly and maintenance of axonal cytoskeleton. Mutations in the NF-L gene (NEFL) cause autosomal dominant neuropathies that are classified either as axonal Charcot-Marie-Tooth (CMT) type 2E (CMT2E) or demyelinating CMT type 1F (CMT1F). The pathophysiological bases of the d...