A novel compound heterozygous PANK2 gene mutation in a South- Asian sexagenarian with atypical PKAN
Objective: To study the clinical course, imaging and genetics of a case of late-onset dystonia-parkinsonism suspected to have Neurodegeneration with Brain Iron Accumulation (NBIA). Background:…The shaky truth of a Movement Disorder Nurse pilot program in Rural Australia
Objective: The conception of the Movement Disorder Nurse program began when the Australian Government and Fight Parkinson’s conducted a scoping evaluation of people living with…Hypersensitive reaction to botulinum toxin type A following Covid19 mRNA vaccination
Objective: two cases of hypersensitivity reactions to botulinum toxin type A (BTA) following mRNA based COVID-19 vaccine Background: Botulinum toxin type A is widely used…Machine learning supervised classification study for Parkinson`s disease progression through graph-based feature selection method
Objective: The model helps neuro physicians/ neurologists to improve the PD symptoms, or therapeutic-treatment planning-procedures. Background: Artificial intelligence-based machine learning (AI-ML) supervised classification systems have…Cerebrospinal α-synuclein RT-QuIC in pathologically-confirmed Multiple System Atrophy
Objective: To assess the sensitivity of CSF α-synuclein RT-QuIC in pathologically-confirmed MSA. Background: Multiple system atrophy (MSA) is a rare neurodegenerative disorder characterised pathologically by…Focused Ultrasound Subthalamotomy in Parkinson’s Disease: Lesion Topography and Motor Improvement.
Objective: To describe the topography of unilateral focused ultrasound (FUS) subthalamotomy in Parkinson’s disease (PD), and define correlations between lesion size/location and improvement of cardinal…Role of resting-state fMRI-based brain network modularity in differentiating SCA1 and SCA2
Objective: To ascertain the role of resting-state functional MRI (rsfMRI)-based modularity in differentiating spinocerebellar ataxia type 1 (SCA1) and spinocerebellar ataxia type 2 (SCA2). Background:…Tracking longitudinal changes in MSA: TALISMAN study protocol
Objective: The European (EU) TALISMAN study will retrospectively and prospectively explore disease progression and the correlation with plasma neurofilament light chain (p-NfL) and brain MRI…Whole exome sequencing identifies novel variants underlying Ataxia with Oculomotor Apraxia type 1 in Pakistani consanguineous families
Objective: To investigate the underlying pathogenic variants in four consanguineous Pakistani families segregating Ataxia with Oculomotor Apraxia type 1 Background: Ataxia with Oculomotor Apraxia type 1…Changes in the level of glial neurotrophic factor in Parkinson’s disease depending on the form
Objective: To study the level of glial neurotrophic disease in blood plasma in patients with Parkinson's disease (PD) depending on the form Background: Neurotrophic factors…
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