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…The first Indian patient with Hereditary Spastic Paraparesis type 42 due to a de novo SLC33A1 variant
Objective: Hereditary Spastic Paraparesis (HSP) 42 is an autosomal dominant HSP caused by pathogenic mutations in the SLC33A1 gene. This subtype has been reported from a…An Unusual and Treatable Cause of Cerebellar Ataxia and Dystonia: Homozygous COQ4 Gene Mutation
Objective: To report a case of Coenzyme Q10 (CoQ10) deficiency due to COQ4 variants causing adult-onset ataxia and dystonic postures. Background: CoQ10 is an essential…Predicting Disease Severity in Friedreich’s Ataxia through Wearable Monitoring and Machine Learning.
Objective: Develop and validate a wearable-based solution for tracking motor function in Friedreich ataxia (FRDA). Background: FRDA is an autosomal recessive neurodegenerative disorder causing progressive…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…Spinocerebellar Ataxia Type 49 presenting with Early onset Dystonia-Ataxia in an Indian Female
Objective: To report the first Indian patient with SCA 49 who presented in the second decade and to expand the clinical phenotype to include dystonic…Nonmotor symptoms in Spinocerebellar ataxia type 12 (SCA 12)
Objective: To find the frequency and extent of depression, autonomic disturbances, and cognitive impairment in patients with SCA12 and exploring its association with motor symptoms…Fixel Analysis of Diffusion Imaging in Cerebellar Tracts as a Quantitative Marker of Disease Progression in Spinocerebellar Ataxia
Objective: This study aimed to identify white matter changes in the brain of presymptomatic and early-stage SCA1 and SCA3 mutation carriers using fixel-based analysis of…Increased Risk of Suicidal Ideation in Patients with Spinocerebellar Ataxias
Objective: We aimed to investigate if individuals with spinocerebellar ataxias (SCAs) experience increased suicidal ideation and to identify associated factors. Background: Suicidality has been extensively…The impact of Deep Brain Stimulation for Parkinson’s disease on Quality of Life
Objective: To evaluate the long-term outcomes in Quality of Life (QoL) for patients with Parkinson’s disease (PwP) enrolled in a global, real-world device registry for…
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