A mouse model to test the cortical pathogenic theory of Parkinson’s disease
Objective: To develop a mouse model of chronic corticostriatal overactivity and increase expression of corticostriatal alpha-synuclein. Background: Parkinson’s disease typically has a focal motor onset1,…Evaluation of hyperintense globus pallidus rim sign in seven-tesla MRI as a diagnostic biomarker in Wilson’s disease
Objective: We aim to study the sensitivity and specificity of hyperintense globus pallidus rim sign in WD diagnosis. Background: The diagnosis of Wilson disease (WD)…Decrease of striatal activity during the execution of a everyday-life motor habits in early Parkinson’s disease.
Objective: The aim of this study was to investigate the influence of dopaminergic cell loss on motor habitual behaviour, by comparison between newly diagnosed Parkinson’s…Prevalence of Movement Disorders After Acute Stroke: a Large Prospective Cohort Stroke Study
Objective: To ascertain the prevalence of acute post-stroke movement disorders (PSMD) in a prospective cohort of acute stroke patients. Background: Post-stroke movement disorders can occur…Evolving inclusion criteria in early manifest Huntington’s disease (HD) to address striatal atrophy: Lessons from HD-GeneTRX-1, the first gene therapy trial
Objective: To describe the early screening experience and evidence-based adaptations to the inclusion criteria for HD-GeneTRX-1 (NCT04120493). Background: AMT-130 is an AAV5-based gene therapy intended…“Striatal Hand Signs” and early diagnosis of Parkinson’s Disease: The “Monkey-Wrench Sign”.
Objective: To identify signs of hand deformations in PD patients with earlier diseases, and compare with intermediate and late phases patients. Background: “Striatal hand signs”,…Characterization of a mouse model of PDE10A-related autosomal-dominant movement disorder.
Objective: To characterize a newly generated mouse model of the movement disorder caused by PDE10A pathogenic mutation F300L. Background: Phosphodiesterase 10A (PDE10A) is a striatal…Expanding the phenotypic spectrum of diabetic striatopathy: a case series
Objective: To illustrate the spectrum of diabetic striatopathy by presenting 3 cases with different clinical and neuroimaging findings. Background: Diabetic striatopathy is a rare complication…Persistent and efficient transduction of the putamen following gene therapy for aromatic L-amino acid decarboxylase deficiency
Objective: This study aimed to evaluate longitudinal transduction in subcortical regions and transduction of the cortico-putaminal network after putaminal AADC gene therapy. Background: Aromatic L-amino…Novel Recessive Mitochondrial Mutations Causing Leigh’s Syndrome and Movement Disorders
Objective: Describe discovery of novel mitochondrial mutations causing ataxia and dystonia syndromes with occurrence in childhood. Background: An African-American man at 5 years old subacutely…
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