Pelizaeus Merzbacher like disease (PMLD): Neuroradiological Phenotyping
Objective: To present an unusual case report. Background: Pelizaeus Merzbacher like disease (PMLD) is a hypomyelination disorder, usually manifesting in neonatal or an early infantile…Motor Fluctuations and Dyskinesias in LRRK2-Associated Parkinson’s Disease
Objective: To characterize motor fluctuations and dyskinesias in patients with LRRK2-associated Parkinson’s disease. Background: Motor complications, including dyskinesias and motor fluctuations, are hallmarks of advanced…Unveiling the unusual: PNMA2 paraneoplastic syndrome
Objective: To present a rare case report Background: A 69 year old woman presented with progressive ptosis, change in voice (hypophonia), dysphagia, generalised weakness with…Age-related characteristics of the clinical progression of Parkinson’s disease
Objective: To analysis of the rate of progression of the disease in PD according to the age of patients. Background: Although Parkinson's disease (PD) is…SCN8A-Related Disorders: Expanding the Movement Disorder Phenotype Through a Case Report and Literature Review
Objective: To describe a pediatric case with a pathogenic SCN8A variant who presented with neurodevelopmental delay, seizure and prominent cerebellum signs, along with providing a…Acrostic for the differential diagnosis of atypical Parkinsonian
Objective: Evaluating the usefulness of clinical acrostic for the differential diagnosis of atypical Parkinsonian syndromes Background: Differentiate Parkinson’s disease from atypical parkinsonian syndromes is challenging…Phenotype – lesion correlation in post-stroke movement disorders: Lessons learnt from two cases
Objective: To understand the phenotype-lesion correlation in post-stroke movement disorders (PSMD) from insights gained from two cases. Background: PSMD is an important complication after stroke,…Safety and Feasibility of Repetitive Transcranial Magnetic Stimulation in Dementia with Lewy Bodies: An Ongoing Proof-of-Concept Study
Objective: To investigate the safety and potential cognitive benefits of repetitive transcranial magnetic stimulation (rTMS) in patients with dementia with Lewy bodies (DLB) using a…ANK2 Mutations Associated with a Myoclonus-Dystonia Phenotype: Expanding the Neurological Spectrum of Ankyrin-B Dysfunction
Objective: To deeply characterize the clinical and genetic spectrum of ANK2-related hyperkinetic movement disorders and expand their recognized link to myoclonus-dystonia phenotype. Background: The ANK2…Improving Community Access to Parkinson’s Disease Clinical Trials: Protocol for a Regional Navigation Toolkit in Southern California
Objective: To develop and pilot a regional Clinical Trials Navigation Toolkit to improve community neurologist awareness of Parkinson’s disease (PD) clinical trials and support equitable…
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