A5087237633- Genetic Neurodegenerative Diseases
- Parkinson's Disease Mechanisms and Treatments
- Mitochondrial Function and Pathology
- Neurological disorders and treatments
- Lung Cancer Research Studies
- Neuroendocrine Tumor Research Advances
- CAR-T cell therapy research
- Botulinum Toxin and Related Neurological Disorders
- Neurological diseases and metabolism
- Neuroblastoma Research and Treatments
- Ubiquitin and proteasome pathways
- Congenital Diaphragmatic Hernia Studies
- Immunotherapy and Immune Responses
- Sarcoma Diagnosis and Treatment
- Autoimmune Neurological Disorders and Treatments
- Tumors and Oncological Cases
- Restless Legs Syndrome Research
- Advanced Chemical Sensor Technologies
- Salivary Gland Tumors Diagnosis and Treatment
- Protein Degradation and Inhibitors
- Heart Rate Variability and Autonomic Control
- Glioma Diagnosis and Treatment
- Lung Cancer Diagnosis and Treatment
- Lung Cancer Treatments and Mutations
- Cardiovascular Syncope and Autonomic Disorders
University Children's Hospital Tübingen
2021-2025
University of Tübingen
1996-2024
Klinik und Poliklinik für Kinder- und Jugendmedizin
2024
Universitätsklinikum Tübingen
2022-2024
Tierärztliche Praxis für Neurologie
2023
University of Bonn
2003-2016
University Hospital Bonn
2004-2010
University of Holguín
2004
SRH Klinikum Karlsbad-Langensteinbach
2004
St. Josef-Hospital
2003
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),...
Sixty-five patients suffering from autosomal dominant cerebellar ataxia-I(ADCA-1) were subjected genotype phenotype correlation analysis using molecular genetic assignment to the spinocerebellar ataxia type 1, 2 or 3 (SCA1, -2 -3) locus, clinical examination, eye movement recording and morphometric of MRIs. Pyramidal tract signs, pale discs dysphagia more frequent in SCA1 compared SCA2 SCA3 patients. Saccade velocity was reduced 56% all SCA2, but only 30% MRIs showed atrophy changes typical...
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...
The nosology and aetiology of sporadic adult-onset ataxia are poorly understood. aim the present study was to answer following questions: (i) How many patients have a genetic cause? (ii) suffer from multiple system atrophy (MSA)? (iii) Is there specific association between serum anti-glutamic acid decarboxylase (GAD) or antigliadin antibodies? (iv) What clinical features with unexplained ataxia? performed in 112 who met inclusion criteria: progressive ataxia; onset after 20 years;...
By using three-dimensional magnetic resonance imaging–based volumetry, we studied atrophy of the caudate nucleus, putamen, brainstem, and cerebellum in patients with idiopathic Parkinson's syndrome (IPS, n = 11), progressive supranuclear palsy (PSP, 6), multiple system predominant parkinsonism (MSA-P, 12) or ataxia (MSA-C, 17). Patients were compared a total 46 controls, whom 16 age matched. Mean striatal, cerebellar, brainstem volumes normal IPS. We found significant reductions mean...
Abstract The objective of this study was to test the reliability and validity Scale for Assessment Rating Ataxia (SARA) in ataxia patients not suffering from autosomal dominant spinocerebellar (SCA). To end, 64 with various disorders or stable cerebellar lesions were rated independently by two investigators. In addition SARA, following assessment instruments applied: disease stage, Barthel index part IV (functional assessment) Unified Huntington's Disease scale (UHDRS‐IV). Eighteen twice....
Abstract Several observations suggest a beneficial effect of melatonin antagonism for Parkinson's disease (PD). Although bright light therapy (BLT) suppresses release and is an established treatment depression sleep disturbances, it has not been evaluated in PD. We examined effects BLT on motor symptoms, depression, PD randomized placebo‐controlled double‐blind study 36 patients, using Disease Rating Scale (UPDRS) I–IV, Beck's Depression Inventory, Epworth Sleepiness Scale. All patients...
Abstract The disease‐specific Unified Multiple System Atrophy Rating Scale (UMSARS) has been developed recently and validated for assessing disease severity in multiple system atrophy (MSA). Here, we aimed at (1) rates of progression MSA (2) validating UMSARS sensitivity to change over time. Impairment was assessed two time points 12 months apart using Part I (historical review), II (motor examination), as well measures global severity, including IV, Hoehn Yahr (HY) Parkinson's staging,...
Although multiple system atrophy (MSA) is a neurodegenerative disorder leading to progressive disability and decreased life expectancy, little known about patients' own evaluation of their illness factors associated with poor health-related quality (Hr-QoL). We, therefore, assessed Hr-QoL its determinants in MSA. The following scales were applied 115 patients the European MSA-Study Group (EMSA-SG) Natural History Study: Medical Outcome Study Short Form (SF-36), EQ-5D, Beck Depression...
Forty-one patients suffering from autosomal dominant cerebellar ataxia type I (ADCA-I) were subjected to a genotype-phenotype correlation analysis using molecular genetic assignment the spinocerebellar 1, 2 or 3 (SCA1, -2 -3) locus, clinical examination and nerve conduction as well evoked potential studies. Pyramidal tract signs, pale discs, dysphagia more frequent in SCA1 compared with SCA2 SCA3 patients, while double vision occurred less frequently. Visual potentials motor following...
We assessed maximal saccade velocity (MSV) in 82 spinocerebellar ataxia type 2 (SCA2) patients and 80 controls, correlating it to disease duration, polyglutamine expansion size, age at onset, score, age, sex. Little overlap with normal values was found even earliest stages. Stepwise linear regression analysis showed that 60-degree MSV strongly influenced by size less whereas the reverse for score. Saccade thus is a sensitive, quite specific, objective endophenotype, useful search modifier genes.
<h3>Background</h3> The spinocerebellar ataxias (SCAs) are a genetically heterogeneous group of autosomal dominant ataxias: some mutations, including SCA1, SCA2, and SCA3, multisystemic disorders characterized by variety noncerebellar symptoms while others, like SCA6, give rise to pure cerebellar syndrome. <h3>Objective</h3> To identify impairments the dopaminergic system regional changes glucose metabolism in SCA6. <h3>Methods</h3> We used [<sup>11</sup>C]d-threo-methylphenidate...
Congenital insensitivity to pain (CIP) and hereditary sensory autonomic neuropathies (HSAN) are clinically genetically heterogeneous disorders exclusively or predominantly affecting the neurons. Due rarity of diseases findings based mainly on single case reports small series, knowledge about these is limited. Here, we describe molecular workup a large international cohort CIP/HSAN patients including from normally under-represented countries. We identify 80 previously unreported pathogenic...
<b><i>Article abstract</i></b> Degenerative cerebellar ataxia with autoantibodies against glutamic acid decarboxylase (GAD) is a rare disorder and may represent subset of ataxias previously classified as idiopathic. The authors report patient progressive ataxia, insulin-dependent diabetes mellitus, GAD antibodies who responded to IV immunoglobulins.
Autosomal dominant cerebellar ataxias (ADCA) are a heterogeneous group of neurological disorders. Point mutations in the gene encoding protein kinase Cgamma (PRKCG) responsible for spinocerebellar ataxia 14 (SCA14). We screened PRKCG gene, large series 284 ADCA index cases, mostly French (n=204) and German (n=48), whom CAG repeat expansions known SCA genes were previously excluded. Six found that segregated with disease not detected on 560 control chromosomes, including F643L (exon 18),...
Hyposmia is one of the early signs in idiopathic Parkinson's disease (PD). Olfactory stimuli were applied during fMRI scanning to show disease-related modulation central nervous system structures and advance our understanding olfactory dysfunction PD patients. All participants received either unpleasant that smelled like rotten eggs or pleasant ones roses. Using a block design at 1.5 T scanner we investigated total 8 patients (mean age 60 ± 10.9 years) 13 matched controls 58 9.6 years)....
Background: The incorporation of anti-GD2 antibodies such as ch14.18/SP2/0 into the multimodal treatment high-risk neuroblastoma (HR-NB) patients has improved their outcomes. As studies assessing long-term outcomes, sequelae, and health-related quality life (HRQoL) this are limited, retrospective analysis aimed to explore these. Patients Methods: Between 1991 2002, 65 children received a treatment, including ch14.18/SP2/0, for primary HR-NB. All chemotherapy according NB90/NB97 trial, 51...