Parkinsonism Associated with Twinkle Gene Mutation
Objective: To describe a rare manifestation of Twinkle gene mutation causing not only progressive external ophthalmoplegia (PEO), but also parkinsonism. Background: PEO is one of…Changes in Parkinson’s Disease and Parkinsonian Syndromes A Comparative Retrospective Study in Kyrgyzstan
Objective: This study compares Parkinson's disease (PD) and parkinsonian syndromes (PS) in patients at a Kyrgyzstan university hospital. It analyzes data from 2016-2017 [1] and…24 Hour Maxillofacial Administration of Levodopa in a Parkinsons Patient -An Alternative Route of Administration in Parkinsons Disease
Objective: To assess tolerability, feasibility, safety and to assess outcome measures clinically as well as by serum levels over 24 hours, using the alternative maxillofacial…Clinical and Brain Morphological Characteristics of Early LRRK2-associated Parkinson Disease
Objective: To investigate the impact of LRRK2 mutation in Parkinson disease (PD) and to explore the preclinical markers of LRRK2 mutation carriers who will develop…Sex differences of gait at self-determined speed in neurodegenerative parkinsonism
Objective: To identify sex-specific differences in observer-independent gait parameters in parkinsonian disorders. Background: Reduced mobility and gait impairment impact the quality of life and increase…Leveraging Large-Scale Proteomics to Identify Protein Quantitative Trait Loci and Causal Effects on Parkinson’s Disease
Objective: Integrate proteomics from the cerebrospinal fluid (CSF) and urine from the Parkinson’s Progression Markers Initiative cohort to prioritize the risk variants associated with Parkinson’s…Spastic Ataxia and Motorneuron disease as possible manifestations of ATP13A2 (PARK 9) variants
Objective: To describe 5 late-onset sporadic cases carrying either biallelic or monoallelic variants in ATP13A2, showing either spastic ataxia(Spatax) or primary lateral sclerosis (PLS) as…Understanding Patient and Care Partner Educational Preferences in Atypical Parkinsonism
Objective: To discern preferences for education and community connection among people affected by progressive supranuclear palsy (PSP), corticobasal degeneration (CBD), or multiple system atrophy (MSA).…Peripheral immune profile and neutrophil-to-lymphocyte ratio in Progressive Supranuclear Palsy
Objective: This study aimed to evaluate the peripheral immune profile in patients with Progressive Supranuclear Palsy (PSP) compared with patients with Parkinson’s disease (PD) and…Clinical Utility of Synuclein Skin Biopsy in the Initial Diagnosis and Evaluation of Parkinsonian Disorders
Objective: To determine the clinical utility of phosphorylated alpha-synuclein (P-SYN) within skin biopsies in diagnostic and management decisions. Background: The initial diagnosis of Parkinson’s Disease…
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