Can Heterozygous Autosomal Recessive Mutations Cause Neurological Disease?
Objective: To highlight the significance of heterozygous PLA2G6 and PRKN gene mutations in causing parkinsonism. Background: We report our observations in two families with multiple…Clinical, Radiological and Genetic profile of Eight Patients with Genetically Proven Ceroid Lipofuscinosis Neuronal and Movement Disorders
Objective: To study the spectrum of movement disorders phenomenologies (MDs) in genetically proven ceroid lipofuscinosis neuronal (CLNs) Background: MDs are increasingly recognized in the CLNs…Phenomenology of Coenzyme Q10-deficiency Spinocerebellar Ataxia: Case Description Of Two Siblings And New Therapeutic Perspectives
Objective: To describe the phenomenology of SCAR9, caused by a homozygotic mutation in COQ8A gene, and to describe the positive effects of a holistic approach…Oscillatory signatures of genetic Parkinson’s disease patients in subthalamic macroelectrode recordings
Objective: With electrophysiologically guided adaptive deep brain stimulation (aDBS) fast approaching clinical routine, oscillatory properties in all Parkinson’s disease (PD) patients must be characterised. Genetic…Cervical Vestibular-Evoked Myogenic Potentials in Patients with Parkinson’s Disease
Objective: to examine the functioning of the brain stem and to gain insight into the irregularities of cervical vestibular-evoked myogenic potentials (cVEMPs) in patients with…Harnessing chaperone-mediated autophagy through viral-based LAMP2A overexpression in non-human primates as a Treatment of Parkinson’s Disease
Objective: This project aimed to investigate whether the CMA lysosomal pathway induction may benefit the highest-order mammalian synucleinopathy model, the non-human primate, by targeting CMA’s…Prokineticin-2 is highly expressed in colonic mucosa of early Parkinson’s disease patients
Objective: To investigate the expression of PK2 in colonic biopsies of PD patients. Background: Neuroinflammation is emerging as a key factor involved in the pathophysiology…Women with Parkinson’s disease: exploring the occurrence of hormone-related symptom fluctuations and associated care
Objective: To explore the occurrence of hormone-related symptom fluctuations and associated care in women with Parkinson’s disease (PD). Background: Pre- and (peri)menopausal women with PD…The “Cat Killer’s Disease”: Lived Experience of Parkinson’s disease Patients in Ethiopia
Objective: The main objective of this study is to explore the lived experience of PD patients in Addis Ababa, Ethiopia. Background: Parkinson's disease (PD) is…Movement Disorders Knowledge Among Medical Professionals in Central Asia
Objective: To evaluate and recognize the knowledge of movement disorders among medical professionals in Central Asia. Background: The field of movement disorders encompasses a diverse…
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