- Nystagmus in harmaline induced tremors in rats and attenuation with ethanolObjective: To study nystagmus in harmaline induced tremor (HIT) in rats. Background: Clinical observations have shown the presence of nystagmus in some patients with essential…
- ICF-based effects of VIM-DBS on communication in everyday life in patients with essential tremorObjective: The aim of the study was to determine how patients with essential tremor (ET) evaluate the functional, physical and emotional effects of VIM-DBS on…
- Olfaction analysis in spinocerebellar ataxia type 10 and type 3 comparing with healthy controls and PDObjective: To Analyse olfaction in spinocerebellar ataxia type 10 and type 3. Background: The main clinical manifestations of spinocerebellar ataxias (SCA) result from the involvement…
- Peripheral insulin sensitivity and body composition alterations in early stage Machado Joseph diseaseObjective: To describe body composition and peripheral sensitivity to insulin (PSI) in early stage and presymptomatic spinocerebellar ataxia type 3/Machado Joseph disease (SCA3/MJD) individuals and…
- Predominant motor neuron involvement in autosomal recessive SYNE1 ataxiaObjective: 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 studyObjective: 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 studyObjective: 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 experienceObjective: 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 studyObjective: The Swallowing Disturbance Questionnaire (SDQ) was administered to patients with Huntington disease (HD) as part of a randomized, controlled study of deutetrabenazine for the…
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