Peripheral neuropathy in Autosomal Recessive Spinocerebellar Ataxia due to ANO10 mutation – Expanding the phenotypic spectrum
Objective: SCAR10/ Adult-onset autosomal recessive cerebellar ataxia is an exceptionally rare form of ataxia, caused by mutations in the ANO10 gene and the specific genotype–phenotypecorrelation…Beyond the Classic Triad: An Unusual Phenomenology of Parkinsonism in a Patient with Superficial Siderosis (SS)
Objective: To highlight the phenomenology in a complex case of superficial siderosis (SS) presenting with hearing loss, ataxia, and parkinsonism Background: SS is a rare…Valbenazine Improves Chorea Across Multiple Body Regions in Adults With Huntington’s Disease
Objective: To evaluate valbenazine’s effects on chorea across body regions in adults with Huntington’s disease (HD) using data from KINECT®-HD (NCT04102579). Background: Once-daily valbenazine is…Burden of Non-Motor Manifestations in Huntington’s disease patients – A cross-sectional study in a teaching hospital in India.
Objective: Primary objective:- 1) To study the prevalence of non-motor manifestations in Huntington disease.2) To study the correlation between non motor symptoms and Quality of lifeSecondary…Investigating the most robust predictors of tremor’s severity using a computational image processing pipeline for automated feature extraction
Objective: To investigate the correlation of the machine learning-based tremor extracted features with tremor Research Group Essential Tremor Rating Assessment Scale (TETRAS) and to identify…Are we there yet? A Comprehensive Assessment of the Challenges in Standardizing MRgFUS Outcomes in Essential Tremor
Objective: To evaluate heterogeneity of outcomes following magnetic resonance-guided focused ultrasound (MRgFUS) for essential tremor (ET), highlighting differences in assessment time points, thresholds and definitions.…Hemiballism after MRI guided focused ultrasound thalamotomy for essential tremor
Objective: To report a case of hemiballism as a previously unreported complication of MRI-guided focused ultrasound (MRgFUS) thalamotomy for essential tremor (ET). Background: MRgFUS of…The cerebellum encodes dynamic motor frequencies for volitional movements
Objective: Investigate how the cerebellum computes and regulates motor precision during daily movements Background: Motor coordination, ensuring movement precision and reliability, is governed by the…Adult-Onset Post-Pump Chorea: A Rare Manifestation Post-Cardiac Surgery in a Puerto Rican Patient
Objective: To report the first case of adult-onset post-pump chorea in Puerto Rico and raise awareness of our patient’s atypical age and onset of clinical…Tourette – Like Phenotypes Following Combined Striatal Interneuron Loss.
Objective: To determine whether the ablation of Nkx2.1 derived striatal interneurons (SI) in mice produces Tourette-like phenotypes including abnormal movements and perseverative behaviors. Background: Tourette…
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