Chorea Hyperglycemic Basal Ganglia syndrome(CHBG) with Diabetic Lumbosacral Radiculoplexus Neuropathy – A rare case presentation
Objective: To demonstrate that metabolic derangement can lead to choreiform movement disorder. Background: Hemichorea are involuntary, non-patterned movement disorders caused by lesions of the contralateral…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…Depression in various forms of parkinsonism and striatal hyperkinesis
Objective: To examine of the degree of depression in various forms of Parkinsonism and striatal hyperkinesis Background: Depression is the basis of affective disorders. Almost…Characterization of striatal dopaminergic neurotransmission in the rat pre-formed fibril models of Parkinson’s disease
Objective: To determine the longitudinal effects of synucleinopathy and synucleinopathy-triggered nigrostriatal degeneration on basal and evoked striatal dopamine (DA) release in the striatum at 4…Blood-Brain Barrier Opening with Focused Ultrasound in Parkinson´s Disease with Cognitive Impairment: A Safety and Feasibility Study
Objective: To evaluate the safety and feasibility of MR guided focused ultrasound (MRgFUS) blood-brain barrier (BBB) opening in the cortex or the striatum in Parkinson´s…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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