Sylvia Boesch
A5058514008- Genetic Neurodegenerative Diseases
- Mitochondrial Function and Pathology
- Parkinson's Disease Mechanisms and Treatments
- Neurological disorders and treatments
- Hereditary Neurological Disorders
- Genomics and Rare Diseases
- Botulinum Toxin and Related Neurological Disorders
- DNA Repair Mechanisms
- Genetics and Neurodevelopmental Disorders
- Neurological diseases and metabolism
- Metabolism and Genetic Disorders
- Advanced Neuroimaging Techniques and Applications
- Ion channel regulation and function
- Autoimmune Neurological Disorders and Treatments
- Glycogen Storage Diseases and Myoclonus
- Parkinson's Disease and Spinal Disorders
- Cellular transport and secretion
- Migraine and Headache Studies
- Congenital heart defects research
- RNA regulation and disease
- Neurogenetic and Muscular Disorders Research
- Epigenetics and DNA Methylation
- Neuroscience and Neuropharmacology Research
- Neurological and metabolic disorders
- Genomic variations and chromosomal abnormalities
Innsbruck Medical University
2016-2025
Universität Innsbruck
2016-2025
John Wiley & Sons (United States)
2020-2023
Schön Klinik Vogtareuth
2023
Helmholtz Zentrum München
2023
Technical University of Munich
2023
Centre for Movement Disorders
2023
Max Delbrück Center
2023
Charité - Universitätsmedizin Berlin
2023
Hudson Institute
2020-2021
To develop a reliable and valid clinical scale measuring the severity of ataxia.The authors devised Scale for Assessment Rating Ataxia (SARA) tested it in two trials 167 119 patients with spinocerebellar mean time to administer SARA was 14.2 +/- 7.5 minutes (range 5 40). Interrater reliability high, an intraclass coefficient (ICC) 0.98. Test-retest high ICC 0.90. Internal consistency as indicated by Cronbach's alpha 0.94. Factorial analysis revealed that rating results were determined single...
BackgroundMultiple system atrophy (MSA) is a fatal and still poorly understood degenerative movement disorder that characterised by autonomic failure, cerebellar ataxia, parkinsonism in various combinations. Here we present the final analysis of prospective multicentre study European MSA Study Group to investigate natural history MSA.MethodsPatients with clinical diagnosis were recruited followed up clinically for 2 years. Vital status was ascertained years after completion. Disease...
Friedreich ataxia (FA) is a progressive genetic neurodegenerative disorder with no approved treatment. Omaveloxolone, an Nrf2 activator, improves mitochondrial function, restores redox balance, and reduces inflammation in models of FA. We investigated the safety efficacy omaveloxolone patients FA.We conducted international, double-blind, randomized, placebo-controlled, parallel-group, registrational phase 2 trial at 11 institutions United States, Europe, Australia (NCT02255435,...
ABSTRACT Background MOXIe was a two‐part study evaluating the safety and efficacy of omaveloxolone in patients with Friedreich's ataxia, rare, progressive neurological disease no proven therapy. part 2, randomized double‐blind placebo‐controlled trial, showed significantly improved modified Ataxia Rating Scale (mFARS) scores relative to placebo. Patients who completed 1 or 2 were eligible receive an open‐label extension study. Objective The delayed‐start compared mFARS at end those 72 weeks...
Abstract Dystonia is a rare-disease trait for which large-scale genomic investigations are still underrepresented. Genetic heterogeneity among patients with unexplained dystonia warrants interrogation of entire genome sequences, but this has not yet been systematically evaluated. To significantly enhance our understanding the genetic contribution to dystonia, we (re)analyzed 2,874 whole-exome sequencing (WES), 564 whole-genome (WGS), as well 80 fibroblast-derived proteomics datasets,...
The aim of the present study was (i) to compare disease progression and survival in different types degenerative ataxia, (ii) identify variables that may modify rate progression. We included patients suffering from Friedreich's ataxia (FRDA, n = 83), early onset cerebellar (EOCA, 30), autosomal dominant (ADCA) type I (ADCA-I, 273), ADCA-III (n 13) multiple system atrophy (MSA, 67). Molecular genetic testing allowed us assign 202 ADCA-I one following subgroups: spinocerebellar (SCAI, 36),...
<b>Objective: </b> To identify factors that determine disease severity and clinical phenotype of the most common spinocerebellar ataxias (SCAs), we studied 526 patients with SCA1, SCA2, SCA3. or SCA6. <b>Methods: measure ataxia used Scale for Assessment Rating Ataxia (SARA). In addition, nonataxia symptoms were assessed Inventory Non-Ataxia Symptoms (INAS). The INAS count denotes number in each patient. <b>Results: An analysis covariance SARA score as dependent variable repeat lengths...
The parkinson variant of multiple system atrophy (MSA-P) and progressive supranuclear palsy (PSP) present with atypical parkinsonism, which may be misdiagnosed as PD, particularly in early disease stages. It was previously shown that diffusion-weighted MRI (DWI) is a sensitive tool to discriminate MSA-P from PD based on increased apparent diffusion coefficients (ADCs) the putamen. In this study DWI evaluated 10 patients PSP compared 13 12 MSA-P.Disease diagnosed according established...
Multiple system atrophy (MSA) is a Parkinson's Disease (PD)-like α-synucleinopathy clinically characterized by dysautonomia, parkinsonism, cerebellar ataxia, and pyramidal signs in any combination. We aimed to determine whether the clinical presentation of MSA as well diagnostic therapeutic strategies differ across Europe Israel. In 19 European Study Group centres all consecutive patients with diagnosis were recruited from 2001 2005. A standardized minimal data set was obtained patients....
The clinical diagnosis of multiple system atrophy (MSA) is fraught with difficulty and there are no pathognomonic features to discriminate the parkinsonian variant (MSA-P) from Parkinson's disease (PD). Besides poor response levodopa, additional presence pyramidal or cerebellar signs (ataxia) autonomic failure as major diagnostic criteria, certain other known "red flags" warning may raise suspicion MSA. To study role these in MSA-P versus PD patients, a standardized red flag check list...
To obtain quantitative data on the progression of most common spinocerebellar ataxias (SCAs) and identify factors that influence their progression, we initiated EUROSCA natural history study, a multicentric longitudinal cohort study 526 patients with SCA1, SCA2, SCA3, or SCA6. We report results 1- 2-year follow-up visits.As primary outcome measure used Scale for Assessment Rating Ataxia (SARA, 0-40), as secondary Inventory Non-Ataxia Symptoms (INAS, 0-16) count.The annual increase SARA score...
To evaluate the efficacy of treatments in spinocerebellar ataxias (SCAs), appropriate clinical scales are required. This study evaluated metric properties International Cooperative Ataxia Rating Scale (ICARS) 156 SCA patients and 8 controls. ICARS was found to be a reliable scale satisfying accepted criteria for interrater reliability, test–retest internal consistency. Although validity testing limited, we evidence when ataxia disease stages Barthel index were used as external criteria. On...
Polyglutamine-coding (CAG)n repeat expansions in seven different genes cause spinocerebellar ataxias. Although the size of expansion is negatively correlated with age at onset, it accounts for only 50-70% its variability. To find other factors involved this variability, we performed a regression analysis 1255 affected individuals identified (spinocerebellar ataxia types 1, 2, 3, 6 and 7), recruited through European Consortium on Spinocerebellar Ataxias, to determine whether onset influenced...
Abstract To test the validity and reliability of scale for assessment rating ataxia (SARA) in Friedreich (FRDA). SARA is limited to eight items can be performed rapidly. Ninety‐six patients with a molecular genetic diagnosis FRDA were rated using three different clinical scales, Rating Scale (FARS), International Cooperative Ataxia (ICARS), SARA. Despite considerable discrepancies size subscale structure, total scores significantly correlated ICARS (r = 0.953, P < 0.0001) FARS 0.938,...
Abstract Onset of genetically determined neurodegenerative diseases is difficult to specify because their insidious and slowly progressive nature. This especially true for spinocerebellar ataxia (SCA) varying affection many parts the nervous system huge variability symptoms. We investigated early symptoms in 287 patients with SCA1, SCA2, SCA3, or SCA6 calculated influence CAG repeat length on age onset depending (1) definition disease onset, (2) people defining (3) duration Gait difficulty...
Abstract Objective Previous studies have demonstrated that suppression of Nrf2 in Friedreich ataxia tissues contributes to excess oxidative stress, mitochondrial dysfunction, and reduced ATP production. Omaveloxolone, an activator NF ‐ kB suppressor, targets dysfunctional inflammatory, metabolic, bioenergetic pathways. The dose‐ranging portion this Phase 2 study assessed the safety, pharmacodynamics, potential benefit omaveloxolone patients ( NCT 02255435). Methods Sixty‐nine were randomized...