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There has been an increased interest in speech pattern analysis applications of Parkinsonism for building predictive telediagnosis and telemonitoring models. For this purpose, we have collected a wide variety of voice samples, including sustained vowels, words, and sentences compiled from a set of speaking exercises for people with Parkinson's disease.(More)
Ubiquitin C-terminal hydrolase-L1 (UCHL1), a neuron-specific de-ubiquitinating enzyme, is one of the most abundant proteins in the brain. We describe three siblings from a consanguineous union with a previously unreported early-onset progressive neurodegenerative syndrome featuring childhood onset blindness, cerebellar ataxia, nystagmus, dorsal column(More)
Wernicke's syndrome, caused by thiamine deficiency, is most commonly associated with alcoholism but can also occur in patients who are malnourished or have malabsorption of nutrients for other reasons. Since the classic triad of encephalopathy, nystagmus and ataxia occurs simultaneously in only 10-33% of cases, a high index of suspicion is needed in any(More)
PURPOSE We aimed to compare the extent of inter-observer variability in the description of seizure semiology between both neurologists and caregivers. METHOD We prospectively investigated 93 consecutive patients monitored over the past 5 years in our video-EEG unit. The videotaped seizures of the patients were reviewed independently by two neurologists(More)
BACKGROUND AND PURPOSE SWI is a new technique for evaluating diffuse axonal injury associated with punctate hemorrhages. The aim of our study was to determine the prevalence of cerebral microhemorrhages in amateur boxers compared with nonboxers by using SWI and to evaluate the sensitivity of SWI compared with T2 FSE and T2*GE sequences. MATERIALS AND(More)
OBJECTIVES To measure the median nerve (MN) stiffness by quantitative shear wave elastography (SWE) at the carpal tunnel inlet and to determine whether SWE can be used in the diagnosis of carpal tunnel syndrome (CTS). METHODS The study included 37 consecutive patients (60 wrists) with a definitive diagnosis of CTS and 18 healthy volunteers (36 wrists).(More)
OBJECTIVES Although levodopa (LD) is the gold standard therapy for symptomatic treatment of Parkinson's disease (PD), the chronic use of LD leads to the development of motor complications in almost all patients. PATIENTS AND METHODS We assessed the presence and risk factors for motor complications in PD patients on LD therapy. We examined 555 PD patients(More)
PURPOSE An increased propensity for seizures is associated with different stages of the sleep-wake cycle. In this study, we prospectively analyzed patients with new-onset epilepsy and investigated the clinical correlates of the yield obtained from sleep electroencephalography (EEG) recordings in patients with a normal wakefulness EEG. METHODS All patients(More)
Reports on the clinical presentation of adult-onset neuronal ceroid lipofuscinoses (NCL) are scarce compared to infantile- and childhood-onset forms. Here, we aimed to present detailed temporal evolution of clinical and electrophysiological features of two siblings with adult-onset NCL and homozygous mutation in the CLN6 gene. We retrospectively analysed(More)
BACKGROUND The most common symptom of Parkinson's disease is the unilateral, typically resting tremor in body parts, most commonly in the upper extremities. However, this finding can spread to the other parts of the body like lips, chin, jaw and tongue during the course of the disease. Nevertheless, we have not come across any Parkinson's disease case(More)