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,…Clinical and analytical validation of novel autosomal recessive ataxia mutations identified from whole exome sequencing
Objective: To establish clinical significance of novel recessive ataxia mutations by phenotype-genotype correlation and screening of mutations in second cohort of recessive ataxia patients and…Evidence of striatal dopaminergic dysfunction Sydenham’s chorea in remission with (99m)Tc-TRODAT-1 SPECT
Objective: To report the findings of reduced striatal dopamine transporter (DAT) density in patients with Sydenham's chorea (SC) in remission assessed by single-photon emission computed…Tractography study of individuals with mutation for Huntington’s disease in symptomatic and pre-symptomatic phases
Objective: Identify the involvement of white matter tracts in HD, using this technique and, thus, evaluate it as a potential biomarker for the disease. Background:…Emotional facial EMG responses are affected in Huntington’s disease
Objective: The aim of this study was to investigate emotional facial muscle responses in Huntington's Disease (HD). We examined induced experience-related responses when viewing emotional…Interleaved pro- and anti-saccade performance in Huntington’s disease
Objective: To investigate suppression of automatic movements and execution of voluntary motor commands in an early stage Huntington's disease patients. Background: The ability to suppress…MRI diagnostics child cerebral palsy with symptomatic epilepsy
Objective: The aim of the study was to determine characteristics of MRI studies in symptomatic epilepsy with child cerebral palsy. Background: Cerebral palsy (CP) is…Iron accumulation in a Wilson disease patient: Longitudinal 7T MRI and transcranial sonography study
Objective: To investigate longitudinal changes in clinical symptoms, 7T MRI and transcranial sonography (TCS) during chelating treatment in a Wilson disease (WD) patient. Background: Pathophysiological…Mirror movements in Moebius syndrome: Mirroring beyond movements
Objective: To understand pathophysiology of mirror movements (MM) in Moebius syndrome patients by performing comprehensive neurophysiologic studies in two patients. Background: MM are involuntary movements…The role of cathepsin L involved in the activation of microglia and Parkinson’s disease
Objective: To investigate the role of lysosomal protease cathepsin L in the activation of microglia and the injury of dopaminergic neurons, and further to interpret…
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