A 37 years-old man with Epilepsy and Progressive Autoimmune Ataxia
Objective: Describe a young patient with medial past history of Epilepsy who started with progressive symptoms of imbalance, vertigo, nausea, oscillopsy and recurrence of seizures.…Empathy in Action A Sensory Experience for Healthcare Providers
Objective: Evaluate the impact of a multisensory, hands-on experience designed to simulate the motor and non-motor symptoms of Parkinson’s disease (PD) on healthcare providers’ (HCPs)…Quantitative evaluation of speech characteristics in Assessment of Motor Speech for Dysarthria (AMSD) using acoustic analysis
Objective: This study aims to extract acoustic features from speech data obtained from patients undergoing the Assessment of Motor Speech for Dysarthria (AMSD), a clinical…Pleozymes, A Multifunctional Nanozyme for Targeting Metabolic Deficits in Friedreich’s Ataxia
Objective: Mitochondrial dysfunction in Friedreich’s Ataxia (FRDA) results from GAA repeat expansion in the FXN gene, reducing frataxin levels thus disrupting iron-sulfur clusters essential for…Physiotherapy for Dystonia in the UK: Current Practice, Patient Perspectives, and Future Directions
Objective: To determine the proportion of patients with dystonia accessing physiotherapy services in the United Kingdom, identify potential barriers to access, and gather patient perspectives…Autosomal dominant ataxias expression profiles based on distinct clinical phenotypes.
Objective: We examined whether distinct phenotypes in genetic ataxias have any implications for disease pathophysiology. Background: Inherited ataxias affect at least 150,000 people in the…Prevalence and Comorbidities of Orthostatic Hypotension in Older Adults: A Two-Year Study
Objective: To determine the prevalence of OH and its associations with autonomic dysfunction, falls, and mortality. Background: Orthostatic hypotension (OH) is a common problem that…Spinocerebellar Ataxia Type 17 First Reported Case in Northern Mexico
Objective: To report the first documented case of spinocerebellar ataxia type 17 (SCA17) in northern Mexico. Background: SCA17 is an autosomal dominant neurodegenerative disorder caused…Episodic Rocking Movements in a Young Boy.
Objective: To present a unique case of a 7-year-old boy with episodic rocking and break-dancing movements from the last 3 years Background: Abnormal episodic movements…The Role of Mitochondrial DNA Haplogroups in determining the Age of Onset in Indian SCA2 Patients.
Objective: To investigate the contribution of mitochondrial DNA (mtDNA) haplogroups to the age at onset (AO) of Spinocerebellar Ataxia type 2 (SCA2) in Indian patients,…
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