Fiberoptic endoscopic evaluation of swallowing findings in patients with Machado-Joseph disease
Objective: To describe the main findings of Fiberoptic endoscopic evaluation of swallowing (FEES) in patients with MJD. Background: Machado-Joseph disease (MJD) is a degenerative process…Early clinical features of paraneoplastic cerebellar degeneration: Diagnostic outcomes of adult onset cerebellar ataxia
Objective: To investigate whether there are clinical features that would allow us to segregate between paraneoplastic cerebellar degeneration (PCD) from other adult onset cerebellar ataxia.…STUB1/CHIP mutations cause Gordon Holmes syndrome as part of widespread multisystemic neurodegeneration: Evidence from novel mutations
Objective: (1) To provide phenotypic and imaging evidence for a widespread neurodegenerative process caused by mutations in CHIP, thus demonstrating a close clinical correspondence to…Diagnostic accuracy of common bedside ataxia examination tests
Objective: To compare the diagnostic accuracy of common bedside examination tests for upper limb ataxia. Background: Although a number of ataxia scales have been validated,…The score changes of clinical symptom assessment scales for multiple system atrophy in 2-3 years
Objective: To examine the extent of disease progression for multiple system atrophy (MSA) during relatively long duration. Background: The knowledge of MSA natural history is…Preliminary findings of MR imaging of the entire spinal cord in Friedreich’s ataxia
Objective: To evaluate abnormalities in the entire spinal cord in patients with Friedreich's ataxia (FRDA) compared to healthy controls using magnetic resonance imaging (MRI) and…Are we speaking the same language? A pilot study to evaluate the agreement in clinical phenotyping of children with cerebral palsy
Objective: The aim of this pilot study was determine the agreement of phenotypical classification of children with cerebral palsy among clinicians. Background: Cerebral palsy (CP)…Unusual phenotype of pathologically confirmed progressive supranuclear palsy with autonomic dysfunction and cerebellar ataxia
Objective: To report two cases of patients with unusual manifestation of pathologically confirmed PSP. Background: Based on the results of recent multicenter clinical-pathological studies, it…Anti-GAD antibody cerebellar ataxia mimicking multiple system atrophy
Objective: To describe a case of anti-glutamic acid decarboxylase antibody (GAD-Abs)-associated cerebellar ataxia (CA), which presented with gradual dysautonomia and parkinsonism fulfilling criteria for MSA,…Creutzfeldt-Jakob disease presenting predominantly with movement disorder: A case report
Objective: To highlight that Creutzfeldt-Jakob Disease can present predominantly with movement disorder. Background: Creutzfeldt-jakob Disease (CJD) is a rapidly progressive spongioform degeneration of the brain…
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