Cerebellar ataxia due to vitamin E deficiency
Objective: To report the case of a young man that developed cerebellar ataxia due to vitamin E deficiency secondary to intestinal malabsorption. Background: Cerebellar ataxia…Enhancement of deep sleep in people with Parkinson disease using auditory stimulation of slow waves at home
Objective: To test the feasibility and effectivity of a new method for non-pharmacological enhancement of deep sleep in Parkinson disease (PD). Background: Sleep-wake disturbances and…Targeted sequencing of regulatory regions shows potential SNVs affecting FXN gene expression in Friedreich’s ataxia patients
Objective: To investigate variations in regulatory regions of the FXN gene hampering its expression in Friedreich’s Ataxia (FRDA) patients. To investigate variations in regulatory regions…White matter hyperintensities associated with impulse control disorders in Parkinson’s disease
Objective: Given the limited number of non-motor features studied in this context, our aim was to reveal the potential association between the severity of white…Episodic ataxia type 2: a previously undescribed variant in the CACNA1A gene
Objective: To describe a previously unreported variant in the CACNA1A gene in a patient with episodic ataxia type 2 (EA2) phenotype. Background: EA2 is the…Impacts of mutations in Parkinson’s disease-related genes on telomere maintenance
Objective: To investigate the correlation between telomere length (TL) and Parkinson’s disease (PD), and whether the change in telomere biology participates in PD pathogenesis. Background:…Two Distinctive Anatomic Location in Brain Tumor Patients with Secondary Parkinsonism Manifestation: A Serial Case Report
Objective: We reported two interesting cases report of brain tumor patients with different anatomic location presenting secondary parkinsonism Background: Movement disorders caused by brain tumors are rare. The literature…Parkinson’s Disease Stigma Questionnaire (PDStigmaQuest): Development and Pilot Study of a Questionnaire for Stigma in Patients with Idiopathic Parkinson’s Disease
Objective: This pilot study aimed to develop and test a stigma questionnaire specific to patients with Parkinson’s disease (PDStigmaQuest). Background: Stigma is significant in PD.…Targeting autophagy to identify novel modulators of Parkinson’s disease using midbrain organoids
Objective: Natural compound libraries are a great source of new chemical molecules that could restore the altered phenotypes in patient derived cells. The objective of…A baseline study for the first year of a diverse Parkinson’s Disease interdisciplinary clinic
Objective: To characterize patients at a new diverse, academic Parkinson’s Disease (PD) interdisciplinary clinic (IDC). Background: PD affects patients in nearly all spheres of life,…
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