Neurodegener Dis

Introduction: Familial isolated deficiency of vitamin E (VED or AVED; MIM #277460) is a progressive neurodegenerative disorder resembling Friedreich ataxia. It is caused by the deficiency of α-tocopherol transfer protein that prevents patients from retaining vitamin E. Oral vitamin E supplements are an accepted treatment, but detailed dosage recommendations and reports on long-term therapeutic results

Introduction: Traumatic brain injury (TBI) is the most relevant external risk factor for dementia and a major global health burden. Mild TBI (mTBI) contributes to up to 90% of all TBIs, and the classification “mild” often misrepresents the patient’s burden who suffer from neuropsychiatric long-term sequelae. Magnetic resonance spectroscopy (MRS) allows in vivo detection of compromised brain metabolism

Objective: The electrocortical activities associated with the neuropsychiatric symptoms (NPSs) of Alzheimer’s disease (AD) were investigated using frequency-domain electroencephalography (EEG) spectral source analysis, and the potential electrocortical indices identified. Materials and Methods: Scalp EEG data were obtained from 51 patients with AD to investigate the presence of four NPS subdomains

Pathogenic and risk variants in the LRRK2 gene are among the main genetic contributors to Parkinson’s disease (PD) worldwide, and LRRK2-targeted therapies for patients with PARK-LRRK2are now entering clinical trials. However, in contrast to the LRRK2 G2019S mutation commonly found in Caucasians, North-African Arabs, and Ashkenazi Jews, relatively little is known about other causative LRRK2 mutations

Neurodegener Dis 2019;19:244

Neurodegener Dis 2019;19:I–VI

Background: Parkinson’s disease (PD) is a neurodegenerative disease characterized by intracellular α-synuclein (α-Syn) deposition. Alternation of the α-Syn expression level in plasma or erythrocytes may be used as a potential PD biomarker. However, no studies have compared their prognostic value directly with the same cohort. Methods: The levels of α-Syn in plasma and erythrocytes, obtained from 45

Introduction: Impulse control disorder (ICD) in Parkinson’s disease (PD) is a critical nonmotor symptom with personality or neuropsychiatric traits contributing to ICD. Objective: This study aimed to identify predictive traits for persistent or paradoxical aggravation of ICD after dopamine agonist substitution therapy for ICD in PD. Methods: We conducted a case-control study using a database of a multicenter

Background: Cognitive dysfunction as a common comorbidity of epilepsy often manifests as learning and memory impairments in patients with temporal lobe epilepsy (TLE). The pathogenetic molecular mechanisms underlying epilepsy-associated cognitive dysfunction are incompletely understood. We investigated the role of cAMP response element binding protein (CREB) and its downstream signaling pathways in

Background: Pregnancy constitutes a significant period in the lives of women, after which they often experience numerous crucial physiological and psychological changes. Functional neuroimaging studies have shown longitudinal changes in functional brain activity in mothers responding to infant-related stimuli. However, the structural changes that occur in the brains of mothers after delivery remain

Background: Exosomes are nano-sized extracellular vesicles secreted by most cell types and abundantly present in body fluids, including blood, saliva, urine, cerebrospinal fluid, and breast milk. Exosomes can spread toxic amyloid-beta (Aβ) and hyperphosphorylated tau between cells, contributing to neuronal loss in Alzheimer’s disease (AD). Objective: To explore changes in the morphology, number, and

Objectives: Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive inborn lipid storage disorder due to various pathogenic mutations in the CYP27A1 gene. Although the symptoms begin commonly in infancy, CTX diagnosis is often delayed. In this study, we report 7 Turkish CTX patients who had a delayed diagnosis despite early clinical signs and belonged to 6 unrelated families. Methods: We

Background: Multiple system atrophy (MSA) patients pre­sent a variety of symptoms other than autonomic dysfunctions, parkinsonism, and cerebellar ataxia. The aim of this study was to evaluate the frequency of various motor and non-motor symptoms including so-called “red flags” in patients with early MSA and to determine whether the frequency of these symptoms was different between the parkinsonian

Background: Parkinson’s disease (PD) is one of the most common neurological disorders that mostly affect aged individuals. The common symptoms of PD are rest tremor, bradykinesia, and rigidity. Objectives: The present study was devised to find out the clinical features and risk factors associated with PD in a population of Khyber Pakhtunkhwa. Methods:A total of 600 PD patients and 1,200 control individuals

Background: Parkinson disease (PD) is a neurodegenerative disorder characterized by progressive degeneration of the dopaminergic neurons in the substantia nigra, presumably due to increased apoptosis. In previous studies, we showed altered expression of proteins involved in mammalian target of rapamycin (mTOR) antiapoptotic and double-stranded RNA-dependent protein kinase (PKR) apoptotic pathways of

Background: Amyotrophic lateral sclerosis (ALS) is a fatal progressive motor neuron disease. People with ALS demonstrate various speech problems. Summary: We aim to provide an overview of studies concerning the diagnosis of ALS based on the analysis of voice samples. The main focus is on the feasibility of the use of voice and speech assessment as an effective method to diagnose the disease, either