Alpha-Synuclein RT-QuIC in Idiopathic Normal Pressure Hydrocephalus.

This study quantified the occurrence of an underlying synucleinopathy in 50 patients with idiopathic normal pressure hydrocephalus by means of real-time quaking-induced conversion, a highly sensitive and specific technique capable of detecting and amplifying misfolded aggregated forms of α-synuclein in the cerebrospinal fluid. Seven patients were positive and they did not differ from negative cases, except for a more frequent L-dopa responsiveness and gait characterized by a wider base. The two groups did not differ in terms of response rate to tap test or shunt surgery, although step length and gait velocity improved by a lesser extent in positive cases.

Ipsilateral and axial tremor response to focused ultrasound thalamotomy for essential tremor: clinical outcomes and probabilistic mapping.

Background: MR-guided focused ultrasound (MRgFUS) thalamotomy has been shown to be a safe and effective treatment for essential tremor (ET).

Objective: To investigate the effects of MRgFUS in patients with ET with an emphasis on ipsilateral-hand and axial tremor subscores.

Methods: Tremor scores and adverse effects of 100 patients treated between 2012 and 2018 were assessed at 1 week, 3, 12, and 24 months.

Are smartphones and machine learning enough to diagnose tremor?

Background: Patients with essential tremor (ET), Parkinson's disease (PD) and dystonic tremor (DT) can be difficult to classify and often share similar characteristics.

Objectives: To use ubiquitous smartphone accelerometers with and without clinical features to automate tremor classification using supervised machine learning, and to use unsupervised learning to evaluate if natural clusterings of patients correspond to assigned clinical diagnoses.

Methods: A supervised machine learning classifier was trained to classify 78 tremor patients using leave-one-out cross-validation to estimate performance on unseen accelerometer data.

Data on self-medication among healthcare students at Najran University, KSA.

The prevalence of self-medication (SM) has increased in health professionals due to awareness of disease and symptoms. Incorrect use of medication caused harmful effects. To assess the knowledge, attitude and practice of health professionals, this survey was conducted.

Flexible vs. standard subthalamic stimulation in Parkinson disease: A double-blind proof-of-concept cross-over trial.

Background: Deep brain stimulation (DBS) of the subthalamus (STN) is effective for the treatment of cardinal motor signs of Parkinson disease (PD). Structures around the STN can suppress dyskinesia and tremor (zona incerta) and improve gait and balance (substantia nigra pars reticulata).

Objective: Is the newer 8-contact linear lead connected to a 'flexible' DBS system superior to standard 4-contact stimulation in PD patients receiving STN DBS?

Methods: After 3 months of open label programming, 10 patients were randomized to standard or flexible stimulation before crossing over to the other arm (3 months each period).

Mapping efficacious deep brain stimulation for pediatric dystonia.

Objective: The objective of this study was to report the authors' experience with deep brain stimulation (DBS) of the internal globus pallidus (GPi) as a treatment for pediatric dystonia, and to elucidate substrates underlying clinical outcome using state-of-the-art neuroimaging techniques.

Methods: A retrospective analysis was conducted in 11 pediatric patients (6 girls and 5 boys, mean age 12 ± 4 years) with medically refractory dystonia who underwent GPi-DBS implantation between June 2009 and September 2017. Using pre- and postoperative MRI, volumes of tissue activated were modeled and weighted by clinical outcome to identify brain regions associated with clinical outcome.

Probabilistic Mapping of Deep Brain Stimulation: Insights from 15 Years of Therapy.

Deep brain stimulation (DBS) depends on precise delivery of electrical current to target tissues. However, the specific brain structures responsible for best outcome are still debated. We applied probabilistic stimulation mapping to a retrospective, multidisorder DBS dataset assembled over 15 years at our institution (n = 482 patients; n = 303; n = 64; n = 39; n = 76) to identify the neuroanatomical substrates of optimal clinical response.

A Distinct EEG Marker of Celiac Disease-Related Cortical Myoclonus.

Background: Celiac disease is associated with motor cortex hyperexcitability and neurological manifestations including cortical myoclonus. Electroencephalography abnormalities have been described, but no distinct pattern has been reported.

Methods: We describe the neurophysiological characteristics of 3 patients with celiac-associated cortical myoclonus using electroencephalography, magnetoencephalography, and transcranial magnetic stimulation.

Association Between Cerebrospinal Fluid Biomarkers and Age-related Brain Changes in Patients with Normal Pressure Hydrocephalus.

Our study aimed to: 1)investigate the diagnostic utility of CSF Aβ42, t-tau, and p-tau to differentiate normal-pressure-hydrocephalus(NPH) from Alzheimer's-disease(AD) and normal-controls; and 2)investigate if age and ventricular size affect the levels of CSF biomarkers in NPH patients. We recruited 131 participants: (a)Suspected-NPH: 72 with ventriculomegaly and clinical symptoms of NPH. These participants were then divided into two groups of 1)Probable-NPH (N = 38) and 2)Unlikely-NPH (N = 34) based on whether participants experienced gait improvement after removal of a large amount of CSF; (b)AD group: 30 participants with CSF biomarkers and cognitive symptoms consistent with AD; (c)Control-group: 29 participants who were cognitively and functionally normal.

Dystonia as complication of thalamic neurosurgery.

Background: Thalamotomy and deep brain stimulation of the ventralis intermedius nucleus are effective symptomatic treatments for tremor, irrespective of the underlying diagnosis.

Methods And Results: Herein we describe six tremor patients (2 Parkinson's disease, 1 dystonic tremor, 2 Essential tremor plus dystonia, 1 Essential tremor plus ataxia) who underwent thalamic neurosurgery and acutely or sub-acutely developed dystonia that was permanent in three cases and could not be managed with any adjustments in the stimulation settings. Tremor response was excellent.

Beyond dystonia and ataxia: Expanding the phenotype of SQSTM1 mutations.

Background: Homozygous sequestomosome-1 gene mutations have been recently linked to neurodegeneration with dystonia, ataxia and gaze palsy. Seven affected families were identified thus far.

Objective: To describe four new cases with additional phenotypical features.

Unusual gait disorders: a phenomenological approach and classification.

Gait impairment is a very common problem in clinical practice. Multiple classifications of gait disorders are available based on anatomy, etiology, pathology and phenomenology. These classifications provide a diagnostic guide but do not clearly explain the pathophysiology of some gait disorders, which can sometimes hinder the diagnostic process.

Modulation of inhibitory plasticity in basal ganglia output nuclei of patients with Parkinson's disease.

Deep brain stimulation of certain target structures within the basal ganglia is an effective therapy for the management of the motor symptoms of Parkinson's disease. However, its mechanisms, as well as the pathophysiology of Parkinson's disease, are varied and complex. The classical model of Parkinson's disease states that symptoms may arise as a result of increased neuronal activity in the basal ganglia output nuclei due to downregulated GABAergic striato-nigral/-pallidal projections.

Optic nerve sheath meningocele.

Optic nerve sheath meningocele, also called dural ectasia of the optic nerve, is a benign dilation of the optic nerve sheath. We report two interesting cases of primary optic nerve sheath meningocele. Etiology, clinical features, and management options are discussed.

The overlap between Essential tremor and Parkinson disease.

Introduction: Essential tremor (ET) and Parkinson's disease (PD) are common disorders especially in the aging population and can have overlapping features that can make it difficult to differentiate between the two. In addition, a possible overlap from a pathophysiological standpoint has been often advocated in the past.

Methods: In this review article, we gather the recent evidence in favor or against a possible relationship between ET and PD.

The role of biomarkers and imaging in Parkinson's disease.

The diagnosis of Parkinson's disease (PD) currently relies on the appearance of certain clinical features. However, these features appear only years after the loss of nigral dopaminergic neurons. The progression of PD may be measured using clinical rating scales that are subjective and that have a variable inter-rater consistency.