Search results for "nervous system diseases"
showing 10 items of 539 documents
CNS involvement in OFD1 syndrome: a clinical, molecular, and neuroimaging study
2014
Background Oral-facial-digital type 1 syndrome (OFD1; OMIM 311200) belongs to the expanding group of disorders ascribed to ciliary dysfunction. With the aim of contributing to the understanding of the role of primary cilia in the central nervous system (CNS), we performed a thorough characterization of CNS involvement observed in this disorder. Methods A cohort of 117 molecularly diagnosed OFD type I patients was screened for the presence of neurological symptoms and/or cognitive/behavioral abnormalities on the basis of the available information supplied by the collaborating clinicians. Seventy-one cases showing CNS involvement were further investigated through neuroimaging studies and neur…
Sleep disordered breathing in medically stable patients with myasthenia gravis
2007
We investigate sleep and breathing in clinically stable myasthenia gravis (MG) patients and ask weather sleep disordered breathing (SDB) is causally linked with MG. Nineteen MG patients with a mean disease duration of 9.7 years underwent sleep studies in two consecutive nights. The primary outcome measure was the respiratory disturbance index (RDI) in terms of snoring and apneas/hypopneas. Further outcome measurements were total sleep time, sleep stage distribution and the number of arousals. A clinically relevant SDB in terms of obstructive sleep apnea (OSA) (defined as RDI > 10/h) was found in four patients. There were only a few central apneas (central apnea index: 0.19 +/- 0.4/h). We di…
Craniomaxillofacial morphology alterations in children, adolescents and adults with neurofibromatosis 1 : a cone beam computed tomography analysis of…
2017
Background Oral manifestations are common in neurofibromatosis 1 (NF1), and include jaws and teeth alterations. Our aim was to investigate the craniomaxillofacial morphology of Brazilian children, adolescents and adults with NF1 using cone beam computed tomography. Material and Methods This study was conducted with 36 Brazilian individuals with NF1 with ages ranging from 4 to 75. The participants were submitted to anamnesis, extra and intraoral exam and cephalometric analysis using cone beam computed tomography. Height of the NF1 individuals was compared to the length of jaws and skull base. The results of the cephalometric measurements of the NF1 group were compared with a control group pa…
FMRI of the Cerebellum: Rostral Paravermal Activation in Tongue and Lip
1998
We investigated with fMRI the cerebellar representation of articulatory vertical movements of the tongue and orofacial muscles in healthy volunteers and its correspondence to the area known to be affected in cerebellar dysarthria. fMRI stimulation is mainly unilateral in agreement with the frequent occurrence of dysarthria in unilateral infarction.
Disease-linked TDP-43 hyperphosphorylation suppresses TDP-43 condensation and aggregation
2021
AbstractPost-translational modifications (PTMs) have emerged as key modulators of protein phase separation and have been linked to protein aggregation in neurodegenerative disorders. The major aggregating protein in amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD), the RNA-binding protein TDP-43, is hyperphosphorylated in disease on several C-terminal serine residues, which is generally believed to promote TDP-43 aggregation. Here, we show that hyperphosphorylation by Casein kinase 1δ or C-terminal phosphomimetic mutations surprisingly reduce TDP-43 phase separation and aggregation and render TDP-43 condensates more liquid-like and dynamic. Multi-scale simulations revea…
Effects of sleep apnea and kidney dysfunction on objective sleep quality in nondialyzed patients with chronic kidney disease: an ESADA study
2020
Study Objectives: Patients with chronic kidney disease (CKD) often report poor sleep quality, but they commonly exhibit OSA. The aim of this study was to evaluate the influence of OSA severity and of estimated glomerular filtration rate impairment on objective sleep quality in nondialyzed patients with CKD, defined as an estimated glomerular filtration rate <60 mL/min/1.73m2. Methods: Polysomnographic sleep characteristics were compared between patients with (n = 430) and without CKD (n = 6,639) in the European Sleep Apnea Database cohort. Comparisons were repeated in 375 patients with CKD and 375 control patients without CKD matched for sleep center, age, sex, and AHI, and in 310 matche…
Dizziness and vertigo in a department of emergency medicine.
1995
Dizziness is a common and vexing diagnostic problem in emergency departments. The term is rather undefinite and often misused, but can in practice be classified into four categories: fainting, disequilibrium, vertigo and miscellaneous syndromes. Vertigo is the most common category of dizziness. Classification of vertigo can be based either on chronological criteria (acute, recurrent or chronic vertigo) or on topographical criteria (peripheral or central vertigo). Physicians working in emergency departments must be able to rapidly identify patients with potentially serious forms of vertigo, which could cause death or disability, and patients with mild conditions, that can be effectively trea…
LRRK2 is expressed in areas affected by Parkinson's disease in the adult mouse brain.
2006
The leucine-rich repeat kinase 2 (LRRK2) gene was recently found to have multiple mutations that are causative for autosomal dominant inherited Parkinson's disease (PD). Previously, we used Northern blot analysis to show that this gene was expressed in the cerebellum, cerebral cortex, medulla, spinal cord, occipital pole, frontal lobe, temporal lobe and caudate putamen. However, a more comprehensive map of LRRK2 mRNA localization in the central nervous system is still lacking. In this study we have mapped the distribution of the mRNA encoding for LRRK2 using nonradioactive in situ hybridization. We detected a moderate expression of this PD-related gene throughout the adult B2B6 mouse brain.…
Aß(25-35) and its C-and/or N-blocked derivatives: copper driven structural features and neurotoxicity
2006
The toxic properties of beta-amyloid protein, Abeta(1-42), the major component of senile plaques in Alzheimer's disease, depend on nucleation-dependent oligomerization and aggregation. In addition, Abeta(1-42) toxicity is favored by the presence of trace metals, which affect the secondary structure of the peptide. A peptide comprising 11 residues within Abeta(1-42) [Abeta(25-35)] aggregates and retains the neurotoxic activity of Abeta(1-42). We have used both Abeta(25-35) and its C-amidated or N-acetylated/C-amidated derivatives to investigate the role of copper(II) in modulating the conformation and aggregation state as well as the neurotoxic properties of amyloid peptides. Electrospray io…
Visual mismatch negativity (vMMN): A review and meta-analysis of studies in psychiatric and neurological disorders
2015
The visual mismatch negativity (vMMN) response is an event-related potential (ERP) component, which is automatically elicited by events that violate predictions based on prior events. VMMN experiments use visual stimulus repetition to induce predictions, and vMMN is obtained by subtracting the response to rare unpredicted stimuli from those to frequent stimuli. One increasingly popular interpretation of the mismatch response postulates that vMMN, similar to its auditory counterpart (aMMN), represents a prediction error response generated by cortical mechanisms forming probabilistic representations of sensory signals. Here we discuss the physiological and theoretical basis of vMMN and review…