Marcus Grobe‐Einsler
A5058597606- Genetic Neurodegenerative Diseases
- Mitochondrial Function and Pathology
- Parkinson's Disease Mechanisms and Treatments
- Neurological disorders and treatments
- Botulinum Toxin and Related Neurological Disorders
- DNA Repair Mechanisms
- Transcranial Magnetic Stimulation Studies
- Vestibular and auditory disorders
- Voice and Speech Disorders
- Genomic variations and chromosomal abnormalities
- Genomics and Rare Diseases
- Muscle activation and electromyography studies
- Fibromyalgia and Chronic Fatigue Syndrome Research
- Glycogen Storage Diseases and Myoclonus
- Genetic factors in colorectal cancer
- Cerebral Palsy and Movement Disorders
- Genetics and Neurodevelopmental Disorders
- Polyomavirus and related diseases
- Pain Mechanisms and Treatments
- Immune cells in cancer
- Traumatic Brain Injury Research
- Nuclear Structure and Function
- Balance, Gait, and Falls Prevention
- Bacterial Infections and Vaccines
- Neonatal and Maternal Infections
German Center for Neurodegenerative Diseases
2020-2025
University of Bonn
2018-2025
University Hospital Bonn
2021-2025
University of Tübingen
2024
Fraunhofer Institute for Algorithms and Scientific Computing
2023
Max Delbrück Center
2023
Charité - Universitätsmedizin Berlin
2023
Abstract Individuals with ultrarare disorders pose a structural challenge for healthcare systems since expert clinical knowledge is required to establish diagnoses. In TRANSLATE NAMSE, 3-year prospective study, we evaluated novel diagnostic concept based on multidisciplinary expertise in Germany. Here present the systematic investigation of phenotypic and molecular genetic data 1,577 patients who had undergone exome sequencing were partially analyzed next-generation phenotyping approaches....
ABSTRACT Background Clinical scales such as the Scale for Assessment and Rating of Ataxia (SARA) cannot be used to study ataxia at home or assess daily fluctuations. The objective current was develop a video‐based instrument, SARA , measuring severity easily independently home. Methods Based on feasibility self‐application, we selected 5 items (gait, stance, speech, nose‐finger test, fast alternating hand movements) (range, 0–28). We compared with total scores in 526 patients spinocerebellar...
Monitoring of disease severity is great importance for treatment and management clinical trials. The Scale Assessment Rating Ataxia (SARA) a frequently used, short easily applicable scale used to assess the ataxia. objective our study was develop training certification tool SARA. SARA scores were recorded according standardized protocol rated by three experts in consensus. Four hundred thirty-eight videos 67 patients included tool. tutorial section demonstrates complete examination on...
Abstract Background In absence of drug therapy options, standard treatment for spinocerebellar ataxia consists symptomatic physiotherapy and speech therapy. New therapeutic options are urgently needed. Transcranial magnetic stimulation is a promising option, but applicability limited by lengthy duration protocols. Methods this randomized sham controlled clinical trial, patients were assigned to verum ( n = 15) or 18) cerebellar transcranial stimulation. To yield best possible effects, both...
ABSTRACT Background Sporadic adult‐onset ataxias without known genetic or acquired cause are subdivided into multiple system atrophy of cerebellar type (MSA‐C) and sporadic ataxia unknown etiology (SAOA). Objectives To study the differential evolution both conditions including plasma neurofilament light chain (NfL) levels magnetic resonance imaging (MRI) markers. Methods SPORTAX is a prospective registry patients with an onset >40 years. Scale for Assessment Rating Ataxia was primary...
Spinocerebellar ataxia type 3/Machado-Joseph disease is the most common autosomal dominant ataxia. In view of development targeted therapies, knowledge early biomarker changes needed. We analyzed cross-sectional data 292 spinocerebellar mutation carriers. Blood concentrations mutant ATXN3 were high before and after onset, whereas neurofilament light deviated from normal 13.3 years onset. Pons cerebellar white matter volumes decreased 2.2 0.6 propose a staging model that includes stage...
ABSTRACT Background Friedreich's ataxia (FA) is a rare multisystemic disorder which can cause premature death. Objectives To investigate predictors of survival in FA. Methods Within prospective registry established by the European Ataxia Consortium for Translational Studies (EFACTS; ClinicalTrials.gov identifier NCT02069509) we enrolled genetically confirmed FA patients at 11 tertiary centers and followed them yearly intervals. We investigated overall applying Kaplan–Meier method, life...
Abstract Most individuals with rare diseases initially consult their primary care physician. For a subset of diseases, efficient diagnostic pathways are available. However, ultra-rare often require both expert clinical knowledge and comprehensive genetic diagnostics, which poses structural challenges for public healthcare systems. To address these within Germany, novel structured concept, based on multidisciplinary expertise at established university hospital centers (CRDs), was evaluated in...
Abstract Background Friedreich ataxia is a rare neurodegenerative disorder caused by frataxin deficiency. Both underweight and overweight occur in mitochondrial disorders, each with adverse health outcomes. We investigated the longitudinal evolution of anthropometric abnormalities hypothesis that both weight loss gain are associated faster disease progression. Methods Participants were drawn from European Friedreich's Ataxia Consortium for Translational Studies (EFACTS). Age‐ sex‐specific...
Abstract Background Spinocerebellar ataxia type 3 (SCA3) is an autosomal dominantly inherited adult-onset disease. We aimed to describe longitudinal changes in clinical and biological findings identify predictors for progression. Methods used data from participants enrolled the ESMI cohort collected between Nov 09, 2016 July 18, 2023. The freeze included 14 sites five European countries United States. assessed with Scale Assessment Rating of Ataxia (SARA). measured disease-specific mutant...
Little is known about the progression of health-related quality life (HRQoL) and predicting factors in spinocerebellar ataxia (SCA). Such knowledge crucial to identify modifiable promoting everyday with SCA attenuating HRQoL decline.
Background: Parkinson Disease (PD) is a progressive neurodegenerative disorder. Current therapeutic trials investigate treatments that can potentially modify the disease course. Testing their efficiency requires outcome assessments are relevant to patients’ daily lives, which include gait and balance. Home-based examinations may enhance patient compliance and, in addition, produce more reliable results by assessing patients regularly familiar surroundings. Objective: The objective of this...
Transcriptional dysregulation has been described in spinocerebellar ataxia type 3/Machado-Joseph disease (SCA3/MJD), an autosomal dominant caused by a polyglutamine expansion the ataxin-3 protein. As is ubiquitously expressed, transcriptional alterations blood may reflect early changes that start before clinical onset and might serve as peripheral biomarkers research settings. Our goal was to describe enriched pathways report dysregulated genes, which can track onset, severity or progression...
Abstract Ataxias are a group of movement disorders that characterized by progressive loss balance, impaired coordination and speech disturbance, which together lead to markedly reduced quality life. Speech disturbance is clinically diagnosed, but methods for objective assessment severity lacking. Using 71 sets recordings from ataxia patients, we developed an automated classification system. With tolerance ±1 point, this system correctly predicted experts’ ratings according item 4 the Scale...
Spinocerebellar ataxia type 3/Machado-Joseph disease (SCA3) is the most common autosomal dominant ataxia. In view of development targeted therapies for SCA3, precise knowledge stage-dependent fluid and MRI biomarker changes needed. We analyzed cross-sectional data 292 SCA3 mutation carriers including 57 pre-ataxic individuals, 108 healthy controls from European Disease Initiative (ESMI) cohort. Blood concentrations mutant ATXN3 neurofilament light (NfL) were determined, volumes pons,...
Abstract Although health-related quality of life (HRQoL) has developed into a crucial outcome parameter in clinical research, evidence the EQ-5D-3L validation performance is lacking patients with spinocerebellar ataxia (SCA) types 1, 2, 3, and 6. The objective this study to assess acceptability, validity, reliability, responsiveness EQ-5D-3L. For n = 842 predominantly European SCA two longitudinal cohort studies, EQ-5D-3L, PHQ-9 (Patient Health Questionnaire), ataxia-specific assessments...
Video recordings of neurological examinations are often used in clinical trials. The Scale for Assessment and Rating Ataxia (SARA) is a widely scale ataxic patients. Despite several advantages video ratings, correlation between live ratings remote video-ratings has not been systematically investigated.To compare assessment SARA.Full SARA 69 patients with cerebellar ataxia were recorded on video. Live rating from site investigators compared three experienced clinicians using Bland-Altman...
Abstract Objective To determine whether an accelerated protocol of 48 Hz cerebellar repetitive transcranial magnetic stimulation results in improved motor function individuals with Parkinson's disease. Methods In this double‐blind randomized sham‐controlled study, 35 disease and stable medical treatment were to either sham or verum stimulation. The was applied bilaterally medial over the cerebellum comprised a novel encompassing two sessions per day on 5 consecutive days. Patients assessed...
BACKGROUND: Cerebellar ataxia, neuropathy and bilateral vestibular areflexia (CANVAS) is a rare neurodegenerative disease affecting the cerebellum, peripheral nervous system system. Due to lack of approved drugs, therapy comprises physiotherapy speech therapy. Transcranial magnetic stimulation promising non-invasive therapeutic option complement classical symptomatic therapies. OBJECTIVE: To test feasibility combination transcranial using an accelerated protocol standard in patients with...
The Scale for Assessment and Rating of Ataxia (SARA) is a widely used clinical scale. objective was to study the age dependence SARA in healthy adults define age-specific cut-off values differentiate from ataxic individuals.Data 390 individuals 119 spinocerebellar ataxia patients were analyzed. scores mapped on functional (fSARA). Age-adjusted determined by receiver operating characteristic curve analysis.The value 3 1.5 fSARA. Older had higher (4.5 60-69 years 6.5 70-79 years). fSARA are 1...