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…“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…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…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…Striatal neurodegeneration in the presymptomatic phase of X-linked Dystonia-Parkinsonism
Objective: To identify structural brain changes in patients with X-linked dystonia-parkinsonism (XDP) and non-manifesting carriers of the TAF1 SVA retrotransposon insertion (NMC). Background: XDP is…Perillyl alcohol restores mitochondrial dysfunction and abridge NLRP3 inflammasomes activation in in-vitro and in-vivo model of Parkinson’s disease
Objective: Parkinson's disease (PD) affects around 2-3% population of age greater than 65 and is the second most common neurogenerative disorder. The molecular mechanism underpinning…Dopaminergic denervation in de-novo Parkinson’s disease. Does functional somatotopy plays a role?
Objective: To clarify how dopaminergic denervation occurs along the dorsoventral axis of the posterior putamen in the earliest stages of PD. Background: Dopamine loss in…
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