Accuracy measures of imbalance bedside examination
Objective: This study explores the accuracy of bedside examinations used to screen for imbalance, using the Berg Balance Scale (BBS) as gold standard(cut-off point:45). Background:…Glut-1 deficiency: a case report
Objective: To report the case of a patient with refractory seizures who was diagnosed with Glut-1 deficiency. Background: Although Epilepsy is commonly diagnosed by child…Comparative Age-Relatedness of Dyskinesia, Dystonia and Ataxia Rating Scales in Healthy Children
Objective: In healthy children (4-16 years of age), we aimed to associate DIS scores with age, and compare age-related influences on dyskinesia (DIS), dystonia (BFMDRS)…Wearable gait sensors to measure degenerative cerebellar ataxia
Objective: We aimed to correlate a bed-side ataxia measure with wearable gait sensors parameters in cerebellar ataxia patients. Background: Limited attention has been paid to…SPG7 related spastic ataxia differs according to the presence of the A510V variant
Objective: To characterize phenotype-genotype correlation in patients with two SPG7 variants, supported by a post mortem study. Background: The SPG7 gene was the first identified…A comparative study between OCT in SCA3 and 10
Objective: To describe OCT findings in spinocerebellar ataxia (SCA) type 10, correlate it with expansion size and disease severity and compare with those of SCA3…Video-oculography assessment in neurodegenerative ataxias and Neimann Pick Type C
Objective: To assess the role of video-oculography (VOG) in the differential diagnosis of neurodegenerative ataxias and NP-C by evaluating saccadic velocity and smooth pursuit gain…The autonomic nervous system in Friedreich´s Ataxia: preliminary findings
Objective: To investigate the autonomic function in Friedreich´s ataxia (FRDA) Background: FRDA is a hereditary neurodegenerative disorder characterized by progressive gait ataxia, limb dysmetria, dysarthria…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…
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