Widening the phenotype of FXTAS in females: Spasmodic dysphonia in two patients
Objective: We present the cases of two female FXTAS patients who both developed spasmodic dysphonia (SD), also known as laryngeal dystonia. Background: Fragile-X-associated tremor/ataxia syndrome…Increased Neutrophil to Lymphocyte Ratio Distinguish Parkinson’s Disease and Parkinson Plus Syndrome
Objective: To investigate the peripheral inflammatory markers distinguishing Parkinson’s disease (PD) or Parkinson plus syndrome (PPS). Background: Previous studies had suggested that peripheral inflammation may…KMT2B episignature analysis identifies a probably hypomorphic missense variant in a family with dystonic and non-dystonic phenotypes
Objective: Recently, DNA methylation episignature analysis has been introduced as a tool enabling re-classification of “variants of uncertain significance“ (VUS) in lysine-specific methyltransferase 2B (KMT2B),…Paroxysmal dystonia with phenotypic variability in ECHS1 mutation twin carriers
Objective: To describe 2 monozygotic twins carrying biallelic ECHS1 mutations with different clinical phenotypes Background: ECHS1 encodes for a mitochondrial short chain enoyl-CoA hydratase, a…Social cognition in Parkinson’s disease
Objective: Objective: To assess deficits in social cognition among patients with Parkinson’s Disease (PD) Background: Background: Social cognition is the study of how people make…ASYMMETRIC EARLY-ONSET PARKINSONISM DUE TO PSEN1 MUTATION
Objective: To report a novel case of early-onset parkinsonism due to a presenilin 1 gene (PSEN1) mutation. Background: Mutations in PSEN1 gene are the most…Paroxysmal Musician’s Dyskinesia
Objective: To report a case of tics associated with paroxysmal kinesigenic dyskinesia in a patient with PRRT2 mutation. Background: Paroxysmal kinesigenic dyskinesia (PKD) is characterized…A Case Series of children with Choreo-athetoid movements diagnosed with Anti-N-Methyl-D-Aspartate Receptor Encephalitis
Objective: The intention of this case series is to raise awareness about movement disorders in Pediatric NMDA encephalitis, a potentially reversible cause of a common…Long-term follow-up of subthalamic nucleus deep brain stimulation for Parkinson’s disease: survival and disability milestones
Objective: To characterize retrospectively the long-term survival of 109 PD patients after 8 years of STN-DBS and to identify the incidence of the milestones of…Effect of the mGlu2/3 orthosteric agonist LY-404,039 on dyskinesia, psychosis-like behaviours, and parkinsonism in the MPTP-lesioned marmoset
Objective: To assess the effect of LY-404,039 on dyskinesia, psychosis-like behaviours (PLBs) and parkinsonism in the 1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine (MPTP)-lesioned marmoset model of Parkinson’s disease (PD). Background:…
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