A site to transform Pubmed publications into these bibliographic reference formats: ADS, BibTeX, EndNote, ISI used by the Web of Knowledge, RIS, MEDLINE, Microsoft's Word 2007 XML.

Neurological features - Top 30 Publications

ATAD3 proteins: brokers of a mitochondria-endoplasmic reticulum connection in mammalian cells.

In yeast, a sequence of physical and genetic interactions termed the endoplasmic reticulum (ER)-mitochondria organizing network (ERMIONE) controls mitochondria-ER interactions and mitochondrial biogenesis. Several functions that characterize ERMIONE complexes are conserved in mammalian cells, suggesting that a similar tethering complex must exist in metazoans. Recent studies have identified a new family of nuclear-encoded ATPases associated with diverse cellular activities (AAA+-ATPase) mitochondrial membrane proteins specific to multicellular eukaryotes, called the ATPase family AAA domain-containing protein 3 (ATAD3) proteins (ATAD3A and ATAD3B). These proteins are crucial for normal mitochondrial-ER interactions and lie at the heart of processes underlying mitochondrial biogenesis. ATAD3A orthologues have been studied in flies, worms, and mammals, highlighting the widespread importance of this gene during embryonic development and in adulthood. ATAD3A is a downstream effector of target of rapamycin (TOR) signalling in Drosophila and exhibits typical features of proteins from the ERMIONE-like complex in metazoans. In humans, mutations in the ATAD3A gene represent a new link between altered mitochondrial-ER interaction and recognizable neurological syndromes. The primate-specific ATAD3B protein is a biomarker of pluripotent embryonic stem cells. Through negative regulation of ATAD3A function, ATAD3B supports mitochondrial stemness properties.

A comparison between the new Low-profile Visualized Intraluminal Support (LVIS Blue) stent and the Flow Redirection Endoluminal Device (FRED) in bench-top and cadaver studies.

The aim of this study is to demonstrate the differences between the new Low-profile Visualized Intraluminal Support (LVIS Blue) stenting device and the Flow Redirection Endoluminal Device (FRED) using a series of bench-top evaluations and optical coherence tomography (OCT) images in a cadaveric preparation of the basilar artery.

Robust inter-subject audiovisual decoding in functional magnetic resonance imaging using high-dimensional regression.

Major methodological advancements have been recently made in the field of neural decoding, which is concerned with the reconstruction of mental content from neuroimaging measures. However, in the absence of a large-scale examination of the validity of the decoding models across subjects and content, the extent to which these models can be generalized is not clear. This study addresses the challenge of producing generalizable decoding models, which allow the reconstruction of perceived audiovisual features from human magnetic resonance imaging (fMRI) data without prior training of the algorithm on the decoded content. We applied an adapted version of kernel ridge regression combined with temporal optimization on data acquired during film viewing (234 runs) to generate standardized brain models for sound loudness, speech presence, perceived motion, face-to-frame ratio, lightness, and color brightness. The prediction accuracies were tested on data collected from different subjects watching other movies mainly in another scanner. Substantial and significant (QFDR<0.05) correlations between the reconstructed and the original descriptors were found for the first three features (loudness, speech, and motion) in all of the 9 test movies (R¯=0.62, R¯ = 0.60, R¯ = 0.60, respectively) with high reproducibility of the predictors across subjects. The face ratio model produced significant correlations in 7 out of 8 movies (R¯=0.56). The lightness and brightness models did not show robustness (R¯=0.23, R¯ = 0). Further analysis of additional data (95 runs) indicated that loudness reconstruction veridicality can consistently reveal relevant group differences in musical experience. The findings point to the validity and generalizability of loudness, speech, motion, and face ratio models for complex cinematic stimuli (as well as for music in the case of loudness). While future research should further validate these models using controlled stimuli and explore the feasibility of extracting more complex models via this method, the reliability of our results indicates the potential usefulness of the approach and the resulting models in basic scientific and diagnostic contexts.

Kinematic analysis of a drinking task in chronic hemiparetic patients using features analysis and Statistical Parametric Mapping.

To compare sitting posture and movement strategies between chronic hemiparetic and healthy subjects while performing a drinking task using Statistical Parametric Mapping (SPM) and feature analysis.

Peak hyperammonemia and atypical acute liver failure: the eruption of an urea cycle disorder during hyperemesis gravidarum.

Inborn urea cycle deficiencies are under-recognized metabolic causes of hyperammonaemia in adults.

Neurosurgical management of a rare congenital supratentorial neurenteric cyst with associated nasal dermal sinus: case report.

The authors describe the case of a patient with the classic clinical presentation and radiographic features of a nasal dermal sinus with an associated intracranial cyst; however, histopathology revealed that the intracranial cyst was neurenteric instead of the typical epidermoid or dermoid cyst. Preoperative assessment included CT and MRI, which revealed a direct communication between the patient's nasal polypoid lesion and the anterior skull base via the foramen cecum. At the hands of a multidisciplinary plastic surgery and neurosurgery team, the patient underwent concurrent gross-total resection of the nasal polypoid lesion, the intracranial intradural cystic lesion, and their interconnecting tract.

Galloway-mowat syndrome - unusual form of nephrotic syndrome in adolescent.

Galloway-Mowat syndrome (GMS), also acknowledged as Microcephaly-Hiatal hernia nephrotic syndrome, is an uncommon genetic disorder inherited as an autosomal recessive trait usually seen before two years of life. It is an exceptional multisystem genetic disorder with a collection of skeletal, neurological, facial, gastrointestinal, growth, and renal abnormalities. This case report describes GMS in a girl, suffering from developmental delay, stunted growth, and various dysmorphic features, in whom nephrotic syndrome became apparent at adolescent age.

Posterior Reversible Encephalopathy Syndrome Triggerred By Alcohol Withdrawal.

Posterior reversible encephalopathy syndrome (PRES) is a clinico-radiological entity characterized by headache, altered mental status, epileptic seizures, visual disturbances and typically transient changes in posterior cerebral circulation areas. In this article, we present a case of alcohol withdrawal accompanied by PRES.

Identification of novel candidate disease genes from de novo exonic copy number variants.

Exon-targeted microarrays can detect small (<1000 bp) intragenic copy number variants (CNVs), including those that affect only a single exon. This genome-wide high-sensitivity approach increases the molecular diagnosis for conditions with known disease-associated genes, enables better genotype-phenotype correlations, and facilitates variant allele detection allowing novel disease gene discovery.

Prader-Willi Syndrome and Schaaf-Yang Syndrome: Neurodevelopmental Diseases Intersecting at the MAGEL2 Gene.

Prader-Willi syndrome (PWS) is a neurodevelopmental disorder characterized by neonatal hypotonia, developmental delay/intellectual disability, and characteristic feeding behaviors with failure to thrive during infancy; followed by hyperphagia and excessive weight gain later in childhood. Individuals with PWS also manifest complex behavioral phenotypes. Approximately 25% meet criteria for autism spectrum disorder (ASD). PWS is caused by the absence of paternally expressed, maternally silenced genes at chromosome 15q11-q13. MAGEL2 is one of five protein-coding genes in the PWS-critical domain. Truncating point mutations of the paternal allele of MAGEL2 cause Schaaf-Yang syndrome, which has significant phenotypic overlap with PWS, but is also clinically distinct; based on the presence of joint contractures, and a particularly high prevalence of autism spectrum disorder (up to 75% of affected individuals). The clinical and molecular overlap between PWS and Schaaf-Yang syndrome, but also their distinguishing features provide insight into the pathogenetic mechanisms underlying both disorders.

Variable course of Unverricht-Lundborg disease: Early prognostic factors.

To explore the course of Unverricht-Lundborg disease (EPM1) and identify the risk factors for severity, we investigated the time course of symptoms and prognostic factors already detectable near to disease onset.

Spinal Arteriolosclerosis Is Common in Older Adults and Associated With Parkinsonism.

There are few studies of spinal microvascular pathologies in older adults. We characterized spinal cord microvascular pathologies and examined their associations with other spinal and brain postmortem indices and parkinsonism in older adults.

Effects of whole body vibration exercise on neuromuscular function for individuals with knee osteoarthritis: study protocol for a randomized controlled trial.

Knee osteoarthritis (KOA) is a leading cause of public disability. Neuromuscular function contributes to the development and/or progression of KOA. Whole body vibration (WBV) exercise improve the neuromuscular function of patients with neurological disorders and even that of older patients with limited exercise options. Therefore, WBV exercise may offer an efficient and alternative treatment for individuals with KOA. However, the effects of WBV training on the neuromuscular function of individuals with KOA remain unclear. Therefore, this study attempts to investigate the effect of a 12-week WBV exercise on the neuromuscular function of individuals with KOA.

Current concepts and controversies in the pathogenesis of Parkinson's disease dementia and Dementia with Lewy Bodies.

Parkinson's disease dementia (PDD) and dementia with Lewy bodies (DLB) are relentlessly progressive neurodegenerative disorders that are likely to represent two ends of a disease spectrum. It is well established that both are characterised pathologically by widespread cortical Lewy body deposition. However, until recently, the pathophysiological mechanisms leading to neuronal damage were not known. It was also not understood why some cells are particularly vulnerable in PDD/DLB, nor why some individuals show more aggressive and rapid dementia than others. Recent studies using animal and cell models as well as human post-mortem analyses have provided important insights into these questions. Here, we review recent developments in the pathophysiology in PDD/DLB. Specifically, we examine the role of pathological proteins other than α-synuclein, consider particular morphological and physiological features that confer vulnerabilities on some neurons rather than others, and finally examine genetic factors that may explain some of the heterogeneity between individuals with PDD/DLB.

Transcranial Alternating Current Stimulation (tACS) Mechanisms and Protocols.

Perception, cognition and consciousness can be modulated as a function of oscillating neural activity, while ongoing neuronal dynamics are influenced by synaptic activity and membrane potential. Consequently, transcranial alternating current stimulation (tACS) may be used for neurological intervention. The advantageous features of tACS include the biphasic and sinusoidal tACS currents, the ability to entrain large neuronal populations, and subtle control over somatic effects. Through neuromodulation of phasic, neural activity, tACS is a powerful tool to investigate the neural correlates of cognition. The rapid development in this area requires clarity about best practices. Here we briefly introduce tACS and review the most compelling findings in the literature to provide a starting point for using tACS. We suggest that tACS protocols be based on functional brain mechanisms and appropriate control experiments, including active sham and condition blinding.

Neurophysiology of the "Celiac Brain": Disentangling Gut-Brain Connections.

Celiac disease (CD) can be considered a complex multi-organ disorder with highly variable extra-intestinal, including neurological, involvement. Cerebellar ataxia, peripheral neuropathy, seizures, headache, cognitive impairment, and neuropsychiatric diseases are complications frequently reported. These manifestations may be present at the onset of the typical disease or become clinically evident during its course. However, CD subjects with subclinical neurological involvement have also been described, as well as patients with clear central and/or peripheral nervous system and intestinal histopathological disease features in the absence of typical CD manifestations. Based on these considerations, a sensitive and specific diagnostic method that is able to detect early disease process, progression, and complications is desirable. In this context, neurophysiological techniques play a crucial role in the non-invasive assessment of central nervous system (CNS) excitability and conductivity. Moreover, some of these tools are known for their valuable role in early diagnosis and follow-up of several neurological diseases or systemic disorders, such as CD with nervous system involvement, even at the subclinical level. This review provides an up-to-date summary of the neurophysiological basis of CD using electroencephalography (EEG), multimodal evoked potentials, and transcranial magnetic stimulation (TMS). The evidence examined here seems to converge on an overall profile of "hyperexcitable celiac brain," which partially recovers after institution of a gluten-free diet (GFD). The main translational correlate is that in case of subclinical neurological involvement or overt unexplained symptoms, neurophysiology could contribute to the diagnosis, assessment, and monitoring of a potentially underlying CD.

Orbitofrontal epilepsy: Case series and review of literature.

Orbitofrontal epilepsy (OFE) is less known and is poorly characterized in comparison with temporal lobe epilepsy, partly because it is rare and possibly because it is unrecognized and therefore underestimated.

Rare Neurosurgical Complications of Epidural Injections: An 8-Yr Single-Institution Experience.

Neurosurgical complications from epidural injections have rarely been reported.

Diagnostic approach to neurotransmitter monoamine disorders: experience from clinical, biochemical, and genetic profiles.

To improve the diagnostic work-up of patients with diverse neurological diseases, we have elaborated specific clinical and CSF neurotransmitter patterns.

Factors Contributing to Surgical Intervention for Subacute Subdural Hematoma Enlargement in Patients with Mild Head Injuries.

Delayed neurological deterioration following mild head injury(MHI)usually occurs within 24 hours. However, some cases require delayed surgical evacuation of an acute subdural hematoma(ASDH), owing to subacute progressive hematoma enlargement. This study aimed to determine radiological or clinical parameters associated with surgical intervention in ASDH cases in which surgery was not initially considered necessary. From 2010 to 2015, 64 patients were non-surgically treated for ASDH following MHI. We evaluated the various outcomes of eventual surgical ASDH evacuation after the first 48 hours following injury, due to hematoma enlargement and clinical deterioration. Univariate and multivariate analyses were applied to both the demographic and initial radiographic features to identify risk factors for ASDH progression and surgery. Overall, at the time of their last follow-up computed tomography, 57 patients(89%)demonstrated minimal ASDH or spontaneous hematoma resolution with conservative non-surgical management. The remaining 7 patients(11%)received delayed surgical ASDH evacuation a median of 5.1 days after the head trauma. There were no significant differences between the two groups for baseline characteristics, including age, prior history of anticoagulants, the presence of cerebral contusions, or subarachnoid hemorrhages. On multivariate analysis, use of antiplatelet drugs(p=0.013, OR=28, 95%CI=1.82-24)was independently associated with delayed hematoma evacuation. These data indicate that as much as 11% of patients with minimal ASDHs after MHI can deteriorate over the course of a week and then require surgical intervention, and that patients on concurrent antiplatelet medication require especially careful monitoring of hematoma progression.

Two polysomnographic features of REM sleep behavior disorder: Clinical variations insight for Parkinson's disease.

Loss of REM sleep muscle atonia (RWA) and dream-enactment behavior (DEB) are two associated features of REM sleep behavior disorder (RBD), which is frequently associated with Parkinson's disease (PD). Few studies have examined both DEB and RWA simultaneously in patients with PD. This study aimed to evaluate relationships between RWA, DEB and clinical characteristics of PD.

Visual Deficit From Laser Interstitial Thermal Therapy for Temporal Lobe Epilepsy: Anatomical Considerations.

Laser interstitial thermal therapy (LITT) is quickly emerging as an effective surgical therapy for temporal lobe epilepsy (TLE). One of the most frequent complications of the procedure is postoperative visual field cuts, but the physiopathology of these deficits is unknown.

App-Based Bradykinesia Tasks for Clinic and Home Assessment in Parkinson's Disease: Reliability and Responsiveness.

Clinical rating of bradykinesia in Parkinson disease (PD) is challenging as it must combine several movement features into a single score. Additionally, in-clinic assessment cannot capture fluctuations throughout the day.

Inflammatory responses in Multiple Sclerosis normal-appearing white matter and in non-immune mediated neurological conditions with wallerian axonal degeneration: A comparative study.

Inflammatory-like changes in the white matter (WM) are commonly observed in conditions of axonal degeneration by different etiologies. This study is a systematic comparison of the principal features of the inflammatory-like changes in the WM in different pathological conditions characterized by axonal damage/degeneration, focusing in particular on Multiple Sclerosis (MS) normal-appearing white matter (NAWM) compared to non immune-mediated disorders. The study was performed on sections of NAWM from 15 MS cases, 11 cases of non immune-mediated disorders with wallerian axonal degeneration (stroke, trauma, amyotrophic lateral sclerosis), 3 cases of viral encephalitis, 6 control cases. Common features of the inflammatory-like changes observed in all of the conditions of WM pathology were diffuse endothelial expression of VCAM-1, microglial activation with expression of M2 markers, increased expression of sphingosine receptors. Inflammation in MS NAWM was characterized, compared to non immune-mediated conditions, by higher VCAM-1 expression, higher density of perivascular lymphocytes, focal perivascular inflammation with microglial expression of M1 markers, ongoing acute axonal damage correlating with VCAM-1 expression but not with microglia activation. Inflammatory changes in MS NAWM share all the main features observed in the WM in non immune-mediated conditions with wallerian axonal degeneration (with differences to a large extent more quantitative than qualitative), but with superimposition of disease-specific perivascular inflammation and ongoing acute axonal damage.

X-linked adrenoleukodystrophy in a chimpanzee due to an ABCD1 mutation reported in multiple unrelated humans.

X-linked adrenoleukodystrophy (X-ALD) is a genetic disorder leading to the accumulation of very long chain fatty acids (VLCFA) due to a mutation in the ABCD1 gene. ABCD1 mutations lead to a variety of phenotypes, including cerebral X-ALD and adrenomyeloneuropathy (AMN) in affected males and 80% of carrier females. There is no definite genotype-phenotype correlation with intrafamilial variability. Cerebral X-ALD typically presents in childhood, but can also present in juveniles and adults. The most affected tissues are the white matter of the brain and adrenal cortex. MRI demonstrates a characteristic imaging appearance in cerebral X-ALD that is used as a diagnostic tool.

Pulmonary nocardiosis with cerebral abscesses mimicking metastatic lung cancer: Three cases and a review of literature.

Nocardiosis is an infectious disease with wide range of clinical features, which can eventually lead to death. The agent responsible belongs to the genus Nocardia that includes about fifty different species. Nocardiosis occurs mainly in immunocompromised hosts. We report here three cases of disseminated nocardiosis misdiagnosed initially as cerebral metastatic lung cancer. These patients, including two immunocompetent hosts, presented with both pulmonary and cerebral lesions. In all three patients, the diagnosis was based on magnetic resonance imaging with diffusion sequence, apparent diffusion coefficient reconstruction and neurosurgical cerebral biopsies. Treatment with an appropriate antibiotic regimen was prolonged for several months. Progress was favorable with full resolution of the neurological symptoms and the radiological abnormalities. These three cases emphasize the diagnostic challenge of nocardiosis, especially in disseminated disease.

Emergency Neurological Life Support: Acute Non-traumatic Weakness.

Acute non-traumatic weakness may be life-threatening if it involves the respiratory muscles and/or is associated with autonomic dysfunction. Most patients presenting with acute muscle weakness have a worsening neurological disorder that requires a rapid, systematic evaluation and detailed neurological exam to localize the disorder. Urgent laboratory tests and neuroimaging are needed to confirm the diagnosis. Because acute weakness is a common presenting sign of neurological emergencies, it was chosen as an Emergency Neurological Life Support protocol. Causes of acute non-traumatic weakness are discussed here by both presenting clinical signs and anatomical location. For each diagnosis, key features of the history, examination, investigations, and treatment are outlined in the included tables or in the "Appendix".

Features and risk factors of carotid atherosclerosis in a population with high stroke incidence in China.

Epidemiological studies have reported associations between traditional cardiovascular risk factors and carotid intima-media thickness (CIMT) or carotid plaque. However, definite risk factors at different phases of carotid atherosclerosis remain controversial. We aimed to explore risk factors and characteristics of carotid atherosclerosis at different stages in a low-income population with a high incidence of stroke in China. Between April 2014 and January 2015, we recruited 3789 stroke-free and cardiovascular disease-free residents aged ≥ 45 years. B-mode ultrasonography was performed to measure CIMT and the presence of carotid plaque. Traditional risk factors were compared between the increased CIMT group and normal CIMT group, and between those with and without carotid plaque. A total of 3789 participants were assessed in this study, with a mean age (standard deviation) of 59.92 (9.70) years. The prevalence of increased CIMT and carotid plaque increased with older age and higher education levels. Age, hypertension, diabetes, and high low-density lipoprotein cholesterol levels were risk factors for increased CIMT and carotid plaque. Furthermore, compared to never smoking, passive smoking was positively associated with increased CIMT, with an odds ratio (95% confidence interval) of 1.26 (1.05, 1.53; P = 0.016); high body mass index was an obvious protective factor against carotid plaque, with an odds ratio (95% confidence interval) of 0.97 (0.95, 0.99; P = 0.004). It is important to identify factors associated with atherosclerosis to prevent cardiovascular disease and stroke and reduce the burden of stroke in this high-risk population.

Comorbidity of dementia with amyotrophic lateral sclerosis (ALS): insights from a large multicenter Italian cohort.

To assess the association, at diagnosis, between amyotrophic lateral sclerosis (ALS) and dementia in a large cohort of well-characterized Italian patients. We investigated the phenotypic profile of 1638 incident patients with definite, probable or laboratory-supported probable ALS, diagnosed from January 2009 to December 2013 in 13 Italian Referral Centers, located in 10 Italian Regions, and classified in two independent subsamples accounting for presence or not of dementia. The collected ALS features, including survival and other follow-up data, were compared between the two subgroups using a one-way analysis of variance and Chi-square test, as appropriate, logistic regression models and Kaplan-Meier survival analysis. Between-subgroup comparisons showed an older age at clinical observation (p = .006), at onset and at diagnosis (p = .002) in demented versus non demented ALS patients. After adjustment for these variables, diagnosis of dementia was significantly associated with higher odds of family history of ALS (p = .001) and frontotemporal dementia (p = .003) and of bulbar onset (p = .004), and lower odds of flail leg phenotype (p = .019) and spinal onset (p = .008). The median survival time was shorter in demented versus non-demented patients, especially in case of classical, bulbar and flail limb phenotypes and both bulbar and spinal onset. Our multicenter study emphasized the importance of an early diagnosis of comorbid dementia in ALS patients, which may have clinical impact and prognostic relevance. Moreover, our results may give further inputs to validation of ALS-specific tools for the screening of cognitive impairment in clinical practice.

Psychiatric and neurological symptoms in patients with Niemann-Pick disease type C (NP-C): findings from the International NPC Registry.

Niemann-Pick disease type C (NP-C) is a rare inherited neurovisceral disease that should be recognized by psychiatrists as a possible underlying cause of psychiatric abnormalities. This study describes NP-C patients who had psychiatric manifestations at enrolment in the international NPC Registry, a unique multicentre, prospective, observational disease registry.