Association of expanded CAG repeat with autonomic function in Spinocerebellar Ataxia Type-2 (SCA-2)
Objective: To investigate association of expanded CAG repeat with autonomic function in SCA2 patients. Background: SCA2 is a progressive neurodegenerative disorder characterized by gait, limb…Transcranial Direct Current Stimulation and Neurofunctional Physical Therapy Improves Motor and Cognitive Symptoms in a Patient with Type 1 Spinocerebellar Ataxia – A Case Report
Objective: The aim of this research was to develop and verify the effects of a Non-Invasive Neuromodulation protocol associated with Neurofunctional Physiotherapy on motor functions,…Superficial siderosis; a case review
Objective: To highlight an often overlooked cause of ataxia with hearing impairment. Background: Superficial siderosis (SS) of the nervous system is caused by chronic hemosiderin…The Profile of Cerebellar Ataxia in Neurology Patients at National Tertiary Referral Hospital in Indonesia
Objective: This study aimed to portray the profile of Cerebellar Ataxia Background: Cerebellar ataxia refers to incoordination due to dysfunction of the cerebellum. It can…Assessment of Cerebellar Ataxia Severity in Patients with Posterior Cranial Fossa Tumors Using CASAS Scale
Objective: To develop a scale for assessing the severity of cerebellar ataxia in patients with PCFT Background: Cerebellar ataxia (CA) is prevalent in patients with…When the Nephrologist calls… Ataxia, Seizures, and Hypokalemia – EAST syndrome and KCJN10 gene mutation
Objective: To present a case study of a 32-year-old woman with pathogenic variant in KCJN10 gene exhibiting ataxia and dystonic posturing with recurrent severe hypokalemia…Diagnostic challenges with novel SCA variants: A case of STUB1 mutation
Objective: We present a case of SCA48 found on multi-gene sequencing panel [MGSP] after negative dementia workup. Background: Spinocerebellar ataxia [SCA] is a genotypically &…Oculomotor Biomarkers for Cerebellar Ataxia and Severity in Smooth Pursuit
Objective: Our research utilizes the technique of brief linear smooth pursuit of a moving target, to derive various parameters. These parameters are then analyzed to…CAPRIN1 defect: a new severe neurodegenerative disorder with childhood dementia, myoclonus-ataxia, and sensorimotor neuropathy
Objective: To present the case of a patient with a severe neurodegenerative disorder with onset in pediatric age carrying a pathogenic variant in CAPRIN1 gene…Choreiform Movements Secondary to Sarcoidosis Without Central Nervous System Granulomatosis
Objective: To share our experience managing a patient who presented with choreiform movements found to be secondary to sarcoidosis without CNS Granulomatosis. Background: Sarcoidosis is…
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