Sacsin levels in PBMCs: A diagnostic assay for SACS variants in peripheral blood cells - A PROSPAX study.

Background: Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a common recessive ataxia that is still underdiagnosed worldwide. An easily accessible diagnostic biomarker might help to diagnostically confirm patients presenting SACS variants of unknown significance (VUS) or atypical phenotypes.

Objectives: To detect sacsin in peripheral blood mononuclear cells (PBMCs) and to validate its diagnostic biomarker quality to discriminate biallelic SACS patients (including patients with VUS and/or atypical phenotypes) against healthy controls, non-ARSACS spastic ataxia patients, and heterozygous SACS carriers.

The immune system in Parkinson's disease: what we know so far.

Parkinson's disease is characterized neuropathologically by the degeneration of dopaminergic neurons in the ventral midbrain, the accumulation of α-synuclein (α-syn) aggregates in neurons and chronic neuroinflammation. In the past two decades, in vitro, ex vivo and in vivo studies have consistently shown the involvement of inflammatory responses mediated by microglia and astrocytes, which may be elicited by pathological α-syn or signals from affected neurons and other cell types, and are directly linked to neurodegeneration and disease development. Apart from the prominent immune alterations seen in the CNS, including the infiltration of T cells into the brain, more recent studies have demonstrated important changes in the peripheral immune profile within both the innate and adaptive compartments, particularly involving monocytes, CD4+ and CD8+ T cells.

FARS-ADL across Ataxias: Construct Validity, Sensitivity to Change, and Minimal Important Change.

Background: Patient-focused outcomes present a central need for trial-readiness across all ataxias. The Activities of Daily Living part of the Friedreich Ataxia Rating Scale (FARS-ADL) captures functional impairment and longitudinal change but is only validated in Friedreich Ataxia.

Objective: Validation of FARS-ADL regarding disease severity and patient-meaningful impairment, and its sensitivity to change across genetic ataxias.

Comparative Assessment of Gait and Balance in Patients with Parkinson's Disease and Normal Pressure Hydrocephalus.

Objectives: We aim to compare balance and gait parameters in patients diagnosed with Parkinson's disease (PD) and normal pressure hydrocephalus (NPH).

Methods: A total of 13 patients with NPH, 20 with PD, and 13 healthy controls (HC) recruited in the study. Three IMU sensors (Ambulatory PD Monitoring Inc.

Reliability and validity of the Turkish version of the 39-item Parkinson Disease Questionnaire.

Background And Purpose:

Investigation of Factors Affecting the Side of the Disease Onset in Parkinson's Disease.

Introduction: Parkinson's disease (PD) is a progressive neurodegenerative disease that starts unilaterally in almost all cases and tends to emerge on the side of the dominant hand, but what we know about the cause of this lateralization is limited. Frequent use of the extremity and physical activity are argued to be protective from PD in preclinical and clinical studies. This study aimed to evaluate the effect of handedness and working in occupations that require continuous use of upper extremities on the disease onset-side.

Perivascular PDGFRB+ cells accompany lesion formation and clinical evolution differentially in two different EAE models.

Background: Multiple Sclerosis (MS) is a chronic inflammatory disease of the central nervous system (CNS) that may lead to progressive disability. Here, we explored the behavioral pattern and the role of vasculature especially PDGFRB+ pericytes/ perivascular cells, in MS pathogenesis.

Methods: We have evaluated vascular changes in two different experimental allergic encephalomyelitis (EAE) mice models (MOG and PLP-induced).

The clinical use of impulse oscillometry in neuromuscular diseases.

Background: The patients with neuromuscular diseases (NMD) are very fragile and it is hard to evaluate respiratory involvement of the primary disease in this group. Therefore, our study aimed to reveal the relationship between pulmonary function tests (PFT) and impulse oscillometry (IOS) and their correlation with respiratory clinical findings in NMD.

Material And Methods: A total of 86 consecutive patients with NMD were included.

Hand Pronation-Supination Movement as a Proxy for Remotely Monitoring Gait and Posture Stability in Parkinson's Disease.

The Unified Parkinson's Disease Rating Scale (UPDRS) is a subjective Parkinson's Disease (PD) physician scoring/monitoring system. To date, there is no single upper limb wearable/non-contact system that can be used objectively to assess all UPDRS-III motor system subgroups (i.e.

Acute-Onset Hemiparkinsonism Secondary to Subacute-Chronic Subdural Hematoma.

Subdural hematomas constitute rare causes of secondary Parkinsonism in elderly. Subacute or chronic subdural hematomas occur in the elderly following minor head trauma or even without a remarkable history of trauma. A 69-year-old woman admitted with a rapidly progressive acute-onset hemiparkinsonism on the left side of her body.

How do Physicians Manage Functional Neurological Symptom Disorder and Somatic Symptom Disorder in the Emergency Department? A Vignette Study.

Introduction: We aimed to explore how physicians from different specialties approach the management of functional neurological symptom (conversion) and somatic symptom disorders in the emergency department compared with pulmonary embolism and how physicians' professional and personal characteristics influence their diagnostic preferences.

Methods: Using a vignette methodology, and cross-sectional design, three emergency department case vignettes of possible functional neurological symptom, somatic symptom disorder, and pulmonary embolism were presented to physicians from internal medicine, emergency medicine, and psychiatry. A structured survey including questions on diagnosis and management of these cases, and physicians' professional and personal characteristics (childhood trauma, attachment style) was conducted.

Production and comprehension of co-speech gestures in Parkinson's disease.

This study examined how impairments in sensorimotor abilities of individuals with Parkinson's Disease (PD) can be related to the use and understanding of co-speech hand gestures involving literal and figurative actions. We tested individuals with PD (n = 18, 12 males, M = 56.5, SD = 8.

Neuropsychiatric Symptoms of COVID-19 Explained by SARS-CoV-2 Proteins' Mimicry of Human Protein Interactions.

The first clinical symptoms focused on the presentation of coronavirus disease 2019 (COVID-19) have been respiratory failure, however, accumulating evidence also points to its presentation with neuropsychiatric symptoms, the exact mechanisms of which are not well known. By using a computational methodology, we aimed to explain the molecular paths of COVID-19 associated neuropsychiatric symptoms, based on the mimicry of the human protein interactions with SARS-CoV-2 proteins. Available 11 of the 29 SARS-CoV-2 proteins' structures have been extracted from Protein Data Bank.

The Complex Genetic Landscape of Hereditary Ataxias in Turkey and Implications in Clinical Practice.

Background: The genetic and epidemiological features of hereditary ataxias have been reported in several populations; however, Turkey is still unexplored. Due to high consanguinity, recessive ataxias are more common in Turkey than in Western European populations.

Objective: To identify the prevalence and genetic structure of hereditary ataxias in the Turkish population.

Genetic variants of vitamin D metabolism-related locus and gene are associated with clinical features of Parkinson's disease.

Purpose/aim Of The Study: Parkinson's disease (PD) is the second most common neurodegenerative disorder. Vitamin D deficiency is suggested to be related to PD. A genome-wide association study indicated that genes involved in vitamin D metabolism affect vitamin D levels.

A novel shoulder disability staging system for scapulothoracic arthrodesis in patients with facioscapulohumeral dystrophy.

Background: Scapulothoracic arthrodesis (STA) is a well-established surgical technique to provide scapular stabilisation in patients with facioscapulohumeral dystrophy (FSHD). There is no staging or scoring systems available to guide surgical decision. The aim of this study was to develop a staging system to evaluate the shoulder disability in patients with FSHD to guide surgical decision-making and assess its reliability among surgeons.

Spinal fusion in facioscapulohumeral dystrophy for hyperlordosis: A case report.

Rationale: Facioscapulohumeral muscular dystrophy (FSHD) is the third most common muscular dystrophy, which is associated with facial, shoulder girdle, and paraspinal muscle atrophy. Most of the patients develop hypokyphosis and hyperlordosis in the course of the disease, to preserve standing posture. Corrective fusion is contraindicated in these patients as the surgery results with loss of compensatory hyperlordosis and leads to loss of trunk balance while standing.

Isolated hypoglossal nerve palsy due to a jugular foramen schwannoma.

Introduction - Although the involvement of the hypoglossal nerve together with other cranial nerves is common in several pathological conditions of the brain, particularly the brainstem, isolated hypoglossal nerve palsy is a rare condition and a diagnostic challenge. Case presentation - The presented patient arrived to the hospital with a history of slurred speech and an uncomfortable sensation on his tongue. Neurological examination showed left-sided hemiatrophy of the tongue with fasciculations and deviation towards the left side during protrusion.

A multidisciplinary clinical approach to facioscapulohumeral muscular dystrophy.

Background And Purpose: Impaired shoulder function is the most disabling problem for daily life of Fascioscapulohumeral muscular dystrophy (FSHD) patients. Scapulothoracic arthrodesis can give a high impact to the functionality of patients. Here we report our experience with scapulothoracic arthrodesis and spinal stenosis surgery in FSHD patients.

Crossing Y-Solitaire thrombectomy as a rescue treatment for refractory acute occlusions of the middle cerebral artery.

Background: Mechanical thrombectomy using a stent retriever has become the standard of care for acute large-vessel occlusions in the anterior circulation. Clots that are refractory to single stent retriever thrombectomy remain a challenge for neurointerventionalists.

Objective: To assess the efficacy and safety of double stent retriever (crossing Y-Solitaire) thrombectomy as a rescue treatment for acute middle cerebral artery (MCA) occlusions that are refractory to single stent retriever thrombectomy.

Stroke epidemiology in Karabük city Turkey: Community based study.

Introduction: Stroke has been projected to increase in developing countries like Turkey. Information about the prevalence of stroke may uncover the etiology of stroke and overcome its impact burden. However, data is limited due to a lack of studies based in Turkey and neighboring regions.

Prevalence of Multiple Sclerosis in a Turkish City Bordering an Iron and Steel Factory.

Background And Purpose: Multiple sclerosis (MS) is an autoimmune disease characterized by inflammatory demyelination. Recent studies have shown that long-term exposure to air pollutants (including PM10 particulates) is potentially an environmental risk factor for MS. We aimed to determine the prevalence rates of MS in two cities with different levels of air pollution.

Rare case of glioblastoma multiforme located in posterior corpus callosum presenting with depressive symptoms and visual memory deficits.

Most of the primary brain tumours are located in the supratentorial region, and it is uncommon to see tumour growth on deep brain structures such as posterior corpus callosum (PCC). In addition, lesions in PCC are also difficult to recognise, because construction apraxia, visuospatial perception and attentional capacity impairment may be the only presenting symptoms. Here, we represent a rare case of gliobastoma multiforme located in PCC, which solely presents with depressive symptoms and visual memory deficits.