Narcolepsy type 1, supranuclear vertical gaze palsy, and agrypnia excitata in a patient with anti-Ma associated encephalitis.
Objective: To describe a case of a patient with narcolepsy type 1, supranuclear vertical gaze palsy, and agrypnia excitata, who presented with anti-Ma encephalitis. Background:…Hydrocephalus associated with Chiari-I malformation presenting with parkinsonism and dystonia
Objective: To provide a case description of dystonia-predominant parkinsonism due to underlying hydrocephalus associated with CIM in an adult. Background: Hydrocephalus is estimated to be…Atypical parkinsonism and psychiatric disorder in hereditary diffuse leukoencephalopathy with spheroids: a novel variant in the CSF1R gene
Objective: We describe the clinical, radiological and neuropathological phenotype of a patient carrying a novel variant in the CSF1R gene. Background: Hereditary diffuse leukoencephalopathy with…Normative values for the Instrumented Timed Up and Go test in Parkinsonian populations
Objective: This study aims to define normative values for the Instrumented Timed Up and Go test using wearable inertial sensors in people affected by Parkinson’s…PD-PRIDE: Healthcare experiences of people identifying as LGBTQ+ with Parkinson disease: A qualitative study preliminary analysis
Objective: To identify the lived experience and perspectives on healthcare access and equity of people with Parkinson disease (PwP) identifying as lesbian, gay, bisexual, transgender,…Diagnostic Utility of Blood α-Synuclein in Parkinson’s Disease: A Systematic Review and Meta-analysis
Objective: The aims were to (1) explore the concentration differences of α-syn species in different blood components between PD and healthy controls (HC), and between…Transcriptional dysregulation in iPSC-derived neurons from patients with X-linked dystonia-parkinsonism
Objective: We pursue to identify dysregulated cellular pathways underlying X-linked dystonia-parkinsonism (XDP) by transcriptome profiling of induced pluripotent stem cell (iPSC)-derived neuronal cultures from XDP…Electrophysiological evaluation of brainstem function in patients with idiopathic normal pressure hydrocephalus
Objective: To explore the brainstem function in patients with idiopathic normal pressure hydrocephalus (iNPH) by means of a multimodal electrophysiological assessment of trigeminal, facial, and…Sacral Mass Lesion Mimicking Atypical Foot Dystonia In Parkinsonian Pa tient
Objective: Describe an unusual presentation of leg posturing and dystonic features in a patient with diagnosis of atypical parkinsonism, which was ultimately found to be…Progressive Supranuclear Palsy: Review On Diagnostic Aspects Based On A Case
Objective: This article was written to enrich the spectrum of PSP case reports, emphasizing the diagnosis aspect. Background: Progressive supranuclear palsy (PSP) is the main…
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