Speech Biomarkers for Dysarthria in Parkinson’s Disease — Clinical Validation Across two Languages
Objective: To identify reliable speech biomarkers for assessing dysarthria in individuals with Parkinson's disease (PD) and ensuring their clinical validity across languages. Background: This study…Physical activity in patients with atypical parkinsonian syndromes – Collection of real-world data
Objective: To record mobility in everyday life of patients with MSA, PSP and IPD using sensor-technology over several days. Background: Even in the early disease…Speech Processing System for Parkinson’s Disease Using Mixed Reality
Objective: Our initiative aims to develop an integrated AR/MR platform for collecting diagnostic data and monitoring patients with neurodegenerative diseases using digital markers from registered…Novel Partial Gene Deletion in CaCNA1A Presenting with Gait Ataxia, Vertigo, and Abnormal Eye Movements
Objective: To report a partial gene deletion in CaCNA1A associated with ataxia. Background: CaCNA1A gene, located on chromosome 19p, encodes the alpha-1a subunit of the…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…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…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 &…Choreoballism due to Bisphosphonate-Induced Antiphospholipid Syndrome: A Case Report
Objective: To describe a patient who presented with hyperkinetic movements due to zoledronic acid-induced autoimmunity. Background: Chorea is a rare neurologic manifestation of antiphospholipid syndrome…Cortical Pencil Lining in Brain MRI of a Patient with Chorea and Hepatic Cirrhosis
Objective: To propose a novel etiology for cortical pencil lining Background: Cortical pencil lining refers to the presence of linear hypointense tracings within the cortical…Do Lower Doses of Botulinum Neurotoxin Type-A Offer a Longer Duration of Effect and Superior Efficacy in Patients with Cervical Dystonia?
Objective: To determine if there is a difference in efficacy and duration of effect between high-dose and low-dose botulinumtoxin neurotoxin type-A for cervical dystonia. Background:…
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