How do ataxias with oculomotor apraxia look and look like? A comparative controlled multimodal study of AT, AOA1 and AOA2 focusing on video-oculography.
Objective: To perform a multimodal comparison of AT, AOA1 and AOA2 focusing on video-oculography. Background: Autosomal recessive cerebellar ataxias (ARCAs) are heterogeneous disabling inherited neurodegenerative…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…Objectives of the MDS rare movement disorders study group
Objective: There is a need to unify diagnostic criteria, develop a comprehensive approach regarding educational and practical challenges in diagnosis, treatment, and outcome measures and…Can quantitative analysis of the “finger-to-nose test” discern between EOA and other conditions of coordination impairment?
Objective: In Early Onset Ataxia (EOA), we investigated whether quantitative analysis employing motion sensors could provide reliable and discriminative outcomes. Background: Many pediatric conditions can…Adult onset Niemann-Pick type C: 24 month follow-up on miglustat
Objective: To present a rare case of adult onset NPC patient and pointing out varying response of her distinct symptoms on long term follow up…
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