Predominant motor neuron involvement in autosomal recessive SYNE1 ataxia
Objective: We here report on a novel SYNE1 mutation in an Austrian family extending the classical clinical phenotype in SYNE1 ataxia. Background: SYNE1 codes for…A novel causal mutation for spinocerebellar ataxia 19/22 (SCA19)
Objective: We report a novel cause for SCA19. We obtained longitudinal exam data on the index case, and data on other family members. We conducted…CSF inflammatory and cell death biomarkers in Huntington’s disease – An exploratory cross-sectional study
Objective: This exploratory work intended to study general inflammatory cytokines, microglial activation markers, and neuronal cell death markers in the cerebrospinal fluid (CSF) of HD…Abnormal intrinsic brain activity reveals neural correlates of impaired cognitive function in early stage of Huntington’s disease (HD): A resting-state fMRI study
Objective: To better understand the mechanism underlying cognitive impairment in HD. Background: Cognitive impairment can precede the motor symptoms and deteriorates over time in HD…Clinical presentation and genetic characteristics of Huntingtons disease in Croatia: Thirty years of experience
Objective: To report our experience over 30 years with patients with Huntington's disease disease (HD) in Croatia and to assess the presence of oxidative stress…Evaluating swallowing function in patients with Huntington disease enrolled in the first-HD study
Objective: The Swallowing Disturbance Questionnaire (SDQ) was administered to patients with Huntington disease (HD) as part of a randomized, controlled study of deutetrabenazine for the…PET imaging of tau pathology in progressive supranuclear palsy
Objective: This study aimed to determine whether there is an increase in [18F]-AV-1451 uptake in the brains of progressive supranuclear palsy (PSP) patients compared to…Single unit activity of globus pallidus during voluntary movements in patients with cervical dystonia
Objective: To reveal the electrophysiological mechanism of voluntary movements with and without neck muscle exertion in patients with cervical dystonia. Background: Globus pallidus, as part…Density of metabotropic glutamate receptors subtype 1 in de novo patients with Parkinson’s disease using 11C-ITMM PET
Objective: To investigate the mapping of metabotropic glutamate receptor subtype 1 (mGluR1) in elderly normal and de novo patients with Parkinson's disease (PD) using N-[4-[6-(isopropylamino)pyrimidin-4-yl]-1,3-thiazol-2-yl]-4-11C…Dynamic dopamine transporter images are helpful for diagnosing parkinsonism
Objective: This study is aimed at introducing a new method to get Dopamine transporter (DAT) imaging simultaneously with regional cerebral flow (CBF) imaging. Background: DAT…
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