Late Onset Ataxia, Myoclonus, and Cognitive Decline in a Patient with Xeroderma Pigmentosum: A Case Report
Objective: To present a case of late onset neurologic symptoms of ataxia, myoclonus, and cognitive impairment in a 37-year-old man with xeroderma pigmentosum (XP). Background:…Evaluation of Actigraphy-Based Circadian Rhythm and Motor Function Measures for Monitoring Treatment of Lewy Body Dementia in PRESENCE Study
Objective: To evaluate if wrist actigraphy data can derive clinically meaningful information reflecting circadian rhythm and motor functions from patients with Lewy body dementia (LBD)…Mutant WDR45 leads to altered ferroptosis in β-propeller protein-associated neurodegeneration
Objective: To functionally characterize WDR45-mediated BPAN (Beta-propeller protein-associated neurodegeneration). Background: BPAN patients usually present with global developmental delay and autistic features in early childhood and…Importance of lifestyle advice for participants in studies of early Parkinson’s disease
Objective: Estimating the ethical acceptability of early Parkinson’s Disease (PD) research among healthy individuals participating in a PD screening study in terms of risk disclosure…Alterations in neuron-derived exosomal cargo in Parkinson Disease
Objective: The main objectives are 1) the confirmation of exosome isolation, based on iPSC-derived midbrain neuron model, 2) the identification of α-synuclein cargo of PD-patient…Gait under unsupervised, but not supervised conditions, differentiates between Parkinson disease with and without fatigue
Objective: To Assess the impact of fatigue on gait in Parkinson Disease patients in different evaluation conditions. Background: Fatigue is a common and disabling symptom…Subjective Self-Report on Sexual Problems in Parkinson’s disease is Reliable
Objective: To propose a practical, effective, and user-friendly tool for health care professionals to assess sexual problems among PwP. Background: Sexual dysfunction (SD) is a…Need for personalized monitoring in Parkinson’s disease: the perspectives of patients and specialized healthcare providers
Objective: To identify the motivations for and barriers against monitoring Parkinson’s disease (PD) symptoms among patients and healthcare providers, and to investigate which aspects of…Late Onset Hemichorea Of Vascular Origin In A Middle Aged Female With Recent Onset Diabetes
Objective: Late onset hemichorea in a diabetic patient could be either due to a vascular cause or Chorea Hyperglycemia Basal Ganglia Syndrome. The distinction between…Genetic stratification of motor and quality of life outcomes in Parkinson’s disease in the EARLYSTIM study
Objective: We identified (Weiss et al., 2016) that single nucleotide polymorphism (SNPs) of the alpha-synuclein gene (SNCA) predicted the motor effect of subthalamic nucleus stimulation (STN-DBS)…
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