GAA expansion with clinic/urodynamic findings in Friedreich’s ataxia with LUTS
Objective: This study correlate the number of GAA repetitions of alleles, the duration of the disease, and the age at the onset of the disease…Depression and clinical progression in spinocerebellar ataxias
Objective: To study the prevalence and influence of depressive symptoms in spinocerebellar ataxias (SCAs). Background: Depression is a common comorbidity in SCAs but its association…Clinical and imaging characteristics of spinocerebellar ataxia type 14 defined in a German multi-center sample
Objective: To give a concise description of clinical and imaging features of spinocerebellar ataxia type 14 (SCA14). Background: Since its genetic definition in 2003, the…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)…
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