Neurology

A CTNNA3 compound heterozygous deletion implicates a role for αT-catenin in susceptibility to autism spectrum disorder
Autism spectrum disorder (ASD) is a highly heritable, neurodevelopmental condition showing extreme genetic heterogeneity. While it is well established that rare genetic variation, both de novo and inherited, plays an important role in ASD risk, recent studies also support a rare recessive contribution. We identified a compound heterozygous deletion intersecting the CTNNA3 gene, encoding αT-cat...


Girdin, an actin-binding protein, is critical for migration, adhesion and invasion of human glioblastoma cells
Girdin, an actin-binding protein, possesses versatile functions in a multitude of cellular processes. Although several studies have shown that Girdin is involved in the cell DNA synthesis, actin cytoskeleton rearrangement and cell motility, the molecular mechanisms of Girdin in tumor development and progression remain elusive. In this study, through over-expression and siRNA experiments, we fou...
CLIC1 functional expression is required for cAMP-induced neurite elongation in postnatal mouse retinal ganglion cells
During neuronal differentiation, axonal elongation is regulated by both external and intrinsic stimuli, including neurotropic factors, cytoskeleton dynamics, second messengers such as cyclic adenosine monophosphate (cAMP), and neuronal excitability. Chloride intracellular channel 1 (CLIC1) is a cytoplasmic hydrophilic protein that, upon stimulation, dimerizes and translocates to the plasma memb...


Addition of docosahexaenoic acid (DHA), but not arachidonic acid (ARA), activates glutathione and thioredoxin antioxidant systems in murine hippocampal HT22 cells: potential implications in neuroprotection
Docosahexaenoic acid (DHA, 22:6n-3) is a major constituent of nerve cell membrane phospholipids. Besides a role in membrane architecture, DHA is a pleiotropic molecule involved in multiple facets of neuronal biology and also in neuroprotection. We show here that supplementation with DHA (but not arachidonic acid) to mouse hippocampal HT22 cells modulates the expression of genes encoding for ant...
Ceramide metabolism analysis in a model of binge drinking reveals both neuroprotective and toxic effects of ethanol
Binge drinking is a common form of alcohol abuse that involves repeated rounds of intoxication followed by withdrawal. The episodic effects of binge drinking and withdrawal on brain resident cells are thought to contribute to neural remodeling and neurological damage. However, the molecular mechanisms for these neurodegenerative effects are not understood. Ethanol (EtOH) regulates the metabolis...


Multiple sphingolipid abnormalities following cerebral microendothelial hypoxia
Hypoxia has been previously shown to inhibit the dihydroceramide desaturase, leading to the accumulation of dihydroceramide (DHC). In this study we used metabolic labeling with [3H]-palmitate, HPLC/MS/MS analysis, and specific inhibitors to show numerous sphingolipid changes after oxygen deprivation in cerebral microendothelial cells. The increased dihydroceramides (DHC), particularly long-chai...
Arctic mutant Aß40 aggregates on α7 nicotinic acetylcholine receptors and inhibits its functions
Amyloid β protein (Aβ) plays a central role in the pathogenesis of Alzheimer's disease (AD). Point mutations within the Aβ sequence associated with familial AD (FAD) are clustered around the central hydrophobic core of Aβ. Several types of mutations within the Aβ sequence have been identified, and the ‘Arctic’ mutation (E22G) has a purely cognitive phenotype typical of AD. Previous stu...

Increased blood-brain barrier permeability and alterations in perivascular astrocytes and pericytes induced by intracisternal glutaric acid
Glutaric acid (GA) is a dicarboxylic acid that accumulates in millimolar concentrations in glutaric acidemia I (GA-I), an inherited neurometabolic childhood disease characterized by extensive neurodegeneration. Vascular dysfunction is a common and early pathological feature in GA-I, although the underlying mechanisms remain unknown. In the present study, we have used a previously-validated rat ...
Memory outcome one year after stereotactic interstitial radiosurgery in patients with epilepsy due to hypothalamic hamartomas
Epileptic seizures caused by hypothalamic hamartomas (HHs) are highly pharmacoresistant. Resective surgical approaches have shown some efficacy in controlling seizures; however, they bear a significant risk of postoperative mnemonic deterioration due to the close anatomical proximity of the HHs to structures essential for memory functions. We report on cognitive outcome in 26 patients with stru...

Bilateral Inflammatory Optic Neuropathy Related to Graft versus Host Disease Following Allogeneic Bone Marrow Transplantation for Hodgkin Disease
Graft versus host disease (GvHD) is a common and often troublesome complication of allogeneic bone marrow transplantation. Neurological complications usually involve the peripheral nervous system and muscle, but the central nervous system may be affected. When an optic neuropathy develops, it is often difficult to determine the cause quickly; infective complications and drug toxicity may have a...
Identification of putative biomarkers for HIV-associated neurocognitive impairment in the CSF of HIV-infected patients under cART therapy determined by mass spectrometry
We identified and measured proteins in the cerebral spinal fluid (CSF) involved in HIV-associated neurological disorders. Protein levels were determined by mass spectrometry (MS) in pooled CSF taken from three patient groups (human immunodeficiency virus (HIV)-1-infected patients that developed HIV-associated neurocognitive disorders (HANDs), HIV-1-infected patients without HAND, and healthy co...

HIV-1 transcriptional regulation in the central nervous system and implications for HIV cure research
Human immunodeficiency virus type-1 (HIV-1) invades the central nervous system (CNS) during acute infection which can result in HIV-associated neurocognitive disorders in up to 50 % of patients, even in the presence of combination antiretroviral therapy (cART). Within the CNS, productive HIV-1 infection occurs in the perivascular macrophages and microglia. Astrocytes also become infected, alth...
Saures Gliafaserprotein beim Patienten mit akuten Schlaganfallsymptomen
Das saure Gliafaserprotein („glial fibrillary acidic protein“, GFAP) ist ein hirnspezifisches Protein, das in Astrozyten in größeren Mengen exprimiert wird und wichtige Funktionen im Rahmen der Aufrechterhaltung des Zytoskeletts übernimmt. Nekrose und Zytolyse von astroglialen Zellen führen zur Freisetzung von GFAP in den Extrazellularraum und ins Blut. Hirnblutungen bedingen die unmitt...
FEES für neurogene Dysphagien
Die neurogene Dysphagie gehört zu den häufigsten und zugleich bedrohlichsten Symptomen einer Vielzahl neurologischer Erkrankungen, wie etwa dem Schlaganfall, den Parkinson-Syndromen und verschiedenen neuromuskulären Erkrankungen. Die flexible endoskopische Evaluation des Schluckakts (FEES) stellt heute in Deutschland die wahrscheinlich am häufigsten eingesetzte Methode zur objektiven Beurte...
Impact of flour fortification with folic acid on the prevalence of neural tube defects in Northern Iran
Several studies reported that enriched cereal grains have been fortified with folic acid to reduce the incidence of neural tube defects (NTDs). The present study was done to evaluate the impact of flour fortification with folic acid on the prevalence of NTDs in Northern Iran. In this hospital-based study conducted between March 2006 and September 2009, we screened all live births at 16 hospital...