Affiliation: University of Luebeck
- Neurological symptoms in patients with biopsy proven celiac diseaseKatrin Burk
Department of Neurology, University of Marburg, Marburg, Germany
Mov Disord 24:2358-62. 2009..Gait disturbances in CD do not only result from cerebellar ataxia but also from proprioceptive or vestibular impairment. Neurological problems may even develop despite strict adherence to a gluten-free diet...
- Exon deletions and intragenic insertions are not rare in ataxia with oculomotor apraxia 2Veronica Bernard
Institut fur Humangenetik, Universitat zu Lubeck, Lubeck, Germany
BMC Med Genet 10:87. 2009..AOA2 is caused by mutations within the senataxin gene (SETX). The majority of known mutations are nonsense, missense, and splice site mutations, as well as small deletions and insertions...
- Antineuronal antibodies in sporadic late-onset cerebellar ataxiaK Burk
Institute for Cell Biology, Department of Immunology, University of Tubingen, Tubingen, Germany
J Neurol 257:59-62. 2010..9%). There was no hint of a paraneoplastic disorder in any of the patients. The present findings suggest an autoimmune contribution to the pathophysiology of a subgroup of sporadic late-onset cerebellar ataxia...
- Clinical and magnetic resonance imaging characteristics of sporadic cerebellar ataxiaKatrin Burk
Department of Neurology, University of Ulm, Ulm, Germany
Arch Neurol 62:981-5. 2005..It is unknown whether multiple system atrophy of the cerebellar type (MSA-C) and idiopathic cerebellar ataxia with extracerebellar presentation (IDCA-P) represent distinct entities...
- Cognitive function in multiple system atrophy of the cerebellar typeKatrin Burk
Department of Neurology, University of Ulm, Ulm, and Department of Neurology, University of Tubingen, Tubingen, Germany
Mov Disord 21:772-6. 2006..Test performance was not related to the severity of motor disability. Regarding the similar cognitive syndrome of MSA-P, the otherwise subclinical problems in MSA-C result from subcortical rather than from cerebellar dysfunction...
- Cognition in hereditary ataxiaKatrin Burk
Department of Neurology, University of Marburg, and Institute of Brain Research, University of Tubingen, Germany
Cerebellum 6:280-6. 2007....
- Comparison of three clinical rating scales in Friedreich ataxia (FRDA)Katrin Burk
Department of Neurodegeneration and Restorative Research, Centers of Molecular Physiology of the Brain and Neurological Medicine, University of Gottingen, Gottingen, Germany
Mov Disord 24:1779-84. 2009..Because SARA is characterized by high interrater reliability and practicability, SARA is applicable and well suited forclinical trials of FRDA...
- Spinocerebellar ataxia type 1, 2, and 3 and restless legs syndrome: striatal dopamine D2 receptor status investigated by [11C]raclopride positron emission tomographyMatthias Reimold
Department of Nuclear Medicine, University of Tubingen, Germany
Mov Disord 21:1667-73. 2006..RLS in SCA was not accompanied by a significant reduction of D(2) receptor availability in the striatum. This missing correlation may point to an extrastriatal origin of RLS...
- Progression characteristics of the European Friedreich's Ataxia Consortium for Translational Studies (EFACTS): a 2 year cohort studyKathrin Reetz
Department of Neurology, RWTH Aachen University, Aachen, Germany JARA BRAIN Institute of Molecular Neuroscience and Neuroimaging, Forschungszentrum Jülich GmbH and RWTH Aachen University, Aachen, Germany
Lancet Neurol 15:1346-1354. 2016..We used data from EFACTS to assess disease progression and the predictive value of disease-related factors on progression, and estimated sample sizes for interventional randomised clinical trials...
- Biological and clinical characteristics of individuals at risk for spinocerebellar ataxia types 1, 2, 3, and 6 in the longitudinal RISCA study: analysis of baseline dataHeike Jacobi
Department of Neurology, University Hospital of Bonn, Bonn, Germany
Lancet Neurol 12:650-8. 2013..Spinocerebellar ataxias (SCAs) are autosomal, dominantly inherited, fully penetrant neurodegenerative diseases. Our aim was to study the preclinical stage of the most common SCAs: SCA1, SCA2, SCA3, and SCA6...
- Monitoring progression in Friedreich ataxia (FRDA): the use of clinical scalesKatrin Burk
Department of Neurology, University of Marburg, Marburg, Germany
J Neurochem 126:118-24. 2013..All scales have been validated and compared with regard to their testing properties. ..
- CD8(+)/perforin/granzyme B(+) effector cells infiltrating cerebellum and inferior olives in gluten ataxiaMichel Mittelbronn
Institute of Brain Research, University of Tubingen, Tubingen, Germany
Neuropathology 30:92-6. 2010....
- No parkinsonism in SCA2 and SCA3 despite severe neurodegeneration of the dopaminergic substantia nigraLudger Schols
1 Department of Neurodegeneration and Hertie Institute for Clinical Brain Research, University of Tubingen, D 72076 Tubingen, Germany 2 Deutsches Zentrum für Neurodegenerative Erkrankungen, D 72076 Tubingen, Germany
Brain 138:3316-26. 2015....
- Mutations in TITF1 are not relevant to sporadic and familial chorea of unknown causePeter Bauer
Medical Genetics, University of Tubingen, Tubingen, Germany
Mov Disord 21:1734-7. 2006..Additionally, linkage analysis excluded TITF1 mutations in a large family with benign hereditary chorea...
- Biological and clinical characteristics of the European Friedreich's Ataxia Consortium for Translational Studies (EFACTS) cohort: a cross-sectional analysis of baseline dataKathrin Reetz
Department of Neurology, University Hospital Rheinisch Westfälische Technische Hochschule RWTH, Aachen, Aachen, Germany Centre for Rare Diseases, University Hospital Rheinisch Westfälische Technische Hochschule RWTH, Aachen, Aachen, Germany JARA Translational Brain Medicine, Jülich and Aachen, Germany Institute of Neuroscience and Medicine 4, Research Centre Julich, Julich, Germany
Lancet Neurol 14:174-82. 2015..Here we report cross-sectional baseline data to establish the biological and clinical characteristics for a prospective, international, European Friedreich's ataxia database registry...
- A novel missense mutation in CACNA1A evaluated by in silico protein modeling is associated with non-episodic spinocerebellar ataxia with slow progressionKatrin Burk
Department of Neurology, Philipps University of Marburg, Germany
Eur J Med Genet 57:207-11. 2014..The phenotype is characterised by a very slowly progressive ataxia, while ataxic episodes or migraine are uncommon. These findings enlarge the phenotypic spectrum of CACNA1A mutations...
- Mesial temporal lobe epilepsy in a patient with spinocerebellar ataxia type 13 (SCA13)Katrin Burk
Department of Neurology and Epilepsy Center, University of Marburg, Marburg, Germany
Int J Neurosci 123:278-82. 2013..This demonstrates that epilepsy of structural-metabolic cause may be contingent upon genetically defined channelopathies...
- Multiple system atrophy of the cerebellar type (MSA-C) with concomitant beta-amyloid and tau pathologyBartosz Bujan
Department of Neuropathology, Philipps University of Marburg, Marburg, Germany
Clin Neuropathol 32:286-90. 2013..These findings challenge the concept of cognitive dysfunction as a core feature of MSA as long as concomitant pathology other than MSA has not been reliably excluded by post mortem analysis...
- Diagnosis and treatment of Friedreich ataxia: a European perspectiveJorg B Schulz
Department of Neurology, University Hospital, RWTH Aachen, Pauwelsstrasse 30, Aachen, Germany
Nat Rev Neurol 5:222-34. 2009..This Review provides guidelines, from a European perspective, for the diagnosis of Friedreich ataxia, differential diagnosis of ataxias and genetic counseling, and treatment of neurological and non-neurological symptoms...
- Do CTG expansions at the SCA8 locus cause ataxia?Ludger Schols
Department of Neurology, St Josef Hospital, Ruhr University, Bochum, Germany
Ann Neurol 54:110-5. 2003..Our data question the disease-causing character of CTG expansions for SCA8 and advise great caution in genetic testing...
- Dopamine transporter positron emission tomography in spinocerebellar ataxias type 1, 2, 3, and 6Ullrich Wullner
Department of Neurology, University of Bonn, Bonn, Germany
Arch Neurol 62:1280-5. 2005....