Binge-eating as an Initial Presentation for the Diagnosis of Chorea-acanthocytosis
Objective: - Background: Chorea-acanthocytosis (ChAc) is an autosomal recessive disorder associated with mutations or deletions in the VPS13A gene on chromosome 9q21, which codes for…Clinical and Kinematic Assessment of Parkinsonian Features in Young Adults with 22q11.2 Deletion Syndrome
Objective: We aimed to characterize parkinsonian features in young adults with 22q11.2 deletion syndrome (22q11.2DS) using clinical and kinematic assessments, and to compare them with…Precision Gene Therapy Results in Clinical Benefit and Developmental Gains in Aromatic L-Amino Acid Decarboxylase Deficiency (AADCd): The UK Experience
Objective: To describe the UK cohort of children who have received regional brain-targeted gene therapy (GT) for AADCd. Background: Classical AADCd is an ultra-rare genetic…Specific thalamic subnuclei volumes associate with autonomic dysfunction in Parkinson’s disease
Objective: To elucidate the association between autonomic symptoms and Parkinson’s disease (PD) subgroups stratified by k-means clustering of thalamic subnuclear volumes measured by MRI. Background:…Associations Between FDG-PET Regional Metabolism and Clinical Severity in Progressive Supranuclear Palsy
Objective: To characterize the clinical profile, disease progression, and their associations with neuroimaging biomarkers in patients with Progressive Supranuclear Palsy (PSP). Background: PSP encompasses a…Improvement in Time Spent in OFF State and In the Functional Impact of Motor Fluctuations After Initiation with COMT Inhibitors in Parkinson’s Disease Patients with Early Wearing-Off: Results from the REONPARK Study
Objective: REONPARK study is an observational study conducted in Spain aimed at evaluating COMT inhibitors (iCOMT) tolerability and effectiveness in alleviating motor complications associated with…Pallidal Local Field Potentials modulation by Deep Brain Stimulation in Acquired Dystonia due to Kernicterus
Objective: To describe pallidal local field potential (LFP) recordings and their clinical correlates in a patient with acquired generalized dystonia secondary to kernicterus undergoing bilateral…A Novel Hyperkinetic–Cerebellar Phenotype with Subependymal Nodules in Glutaric Acidemia Type 1
Objective: To describe an unusual phenotype in Glutaric Acidemia Type 1 (GA1) characterized by a hyperkinetic movement disorder, cerebellar syndrome, and subependymal nodules, expanding the…Prevalence of Pain and Effect of Scalp Block on Pain Scores During MRI Guided Focused Ultrasound Lesioning Procedure
Objective: To study the prevalence of pain and the and the effect of scalp block on pain scores during Magnetic resonance guided focused ultrasound (MRgFUS) thalamotomy in patients with…Late-onset THAP-1 with SCA8 expansion mimicking functional movement disorder, case report.
Objective: - Background: Functional movement disorders (FMD) are characterized by abnormal movements without an identifiable neurological cause. Diagnosis and management of patients with FMD can…
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