7 results on '"Katharina Poustka"'
Search Results
2. SOX5-Null Heterozygous Mutation in a Family with Adult-Onset Hyperkinesia and Behavioral Abnormalities
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Michael Zech, Katharina Poustka, Sylvia Boesch, Riccardo Berutti, Tim M. Strom, Wolfgang Grisold, Werner Poewe, and Juliane Winkelmann
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Genetics ,QH426-470 - Abstract
SOX5 encodes a conserved transcription factor implicated in cell-fate decisions of the neural lineage. SOX5 haploinsufficiency induced by larger genomic deletions has been linked to a recognizable pediatric syndrome combining developmental delay with intellectual disability, mild dysmorphism, inadequate behavior, and variable additional features including motor disturbances. In contrast to SOX5-involving deletions, examples of pathogenic SOX5 small coding variations are sparse in the literature and have been described only in singular cases with phenotypic abnormalities akin to those seen in the SOX5 microdeletion syndrome. Here a novel SOX5 loss-of-function point mutation, c.13C>T (p.Arg5X), is reported, identified in the course of exome sequencing applied to the diagnosis of an unexplained adult-onset motor disorder. Aged 43 years, our female index patient demonstrated abrupt onset of mixed generalized hyperkinesia, with dystonic and choreiform movements being the most salient features. The movement disorder was accompanied by behavioral problems such as anxiety and mood instability. The mutation was found to be inherited to the patient’s son who manifested abnormal behavior including diminished social functioning, paranoid ideation, and anxiety since adolescence. Our results expand the compendium of SOX5 damaging single-nucleotide variation mutations and suggest that SOX5 haploinsufficiency might not be restrictively associated with childhood-onset syndromic disease.
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- 2017
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3. Bulbospinal muscular atrophy (Kennedy disease) responsive to immunoglobulins?
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Sabine Pollanz-Petrovic, Katharina Poustka, Elisabeth Lindeck-Pozza, and Josef Finsterer
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Pathology ,medicine.medical_specialty ,phenotype ,immunoglobulins ,lcsh:Medicine ,Case Report ,Disease ,Case Reports ,030204 cardiovascular system & hematology ,Dysdiadochokinesia ,Fasciculation ,Kennedy disease ,03 medical and health sciences ,0302 clinical medicine ,medicine ,Wasting ,lcsh:R5-920 ,business.industry ,lcsh:R ,Muscle weakness ,General Medicine ,medicine.disease ,Hypotonia ,nervous system diseases ,polyglutamine disease ,Gynecomastia ,030220 oncology & carcinogenesis ,motor neuron disease ,polyneuropathy ,medicine.symptom ,business ,lcsh:Medicine (General) ,Polyneuropathy - Abstract
A 61 year old man with facial diplegia, quadruparesis, tongue atrophy/fasciculations, bulbar speech, muscle weakness/wasting, hypotonia, tremor, dysdiadochokinesia, absent tendon reflexes, fasciculations, and gynecomastia, received immunoglobulins for suspected immune‐neuropathy with limited benefit. After reconsideration, Kennedy disease was diagnosed upon 44 CAG repeats in AR. In conclusion, immunoglobulins exhibit limited benefit on immune‐neuropathy in patients with coexisting KD., A 61 year old man with facial diplegia, quadruparesis, tongue atrophy/fasciculations, bulbar speech, muscle weakness/wasting, hypotonia, tremor, dysdiadochokinesia, absent tendon reflexes, fasciculations, and gynecomastia, received immunoglobulins for suspected immune‐neuropathy with limited benefit. After reconsideration, Kennedy disease was diagnosed upon 44 CAG repeats in AR. Immunoglobulins exhibit limited benefit on immune‐neuropathy in patients with coexisting KD
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- 2020
4. Intrathecal baclofen for autonomic instability due to spinal cord injury
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Markus Kofler, Katharina Poustka, and Leopold Saltuari
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Male ,Baclofen ,Spasm ,Shy-Drager Syndrome ,Tetrazoles ,Cellular and Molecular Neuroscience ,chemistry.chemical_compound ,Orthostatic vital signs ,Muscle tone ,medicine ,Spastic ,Humans ,Spasticity ,Spinal cord injury ,Antihypertensive Agents ,Injections, Spinal ,Spinal Cord Injuries ,Paraplegia ,Endocrine and Autonomic Systems ,business.industry ,Abdominal Wall ,Biphenyl Compounds ,Infusion Pumps, Implantable ,Middle Aged ,medicine.disease ,medicine.anatomical_structure ,Blood pressure ,chemistry ,Anesthesia ,Hypertension ,Autonomic Dysreflexia ,Benzimidazoles ,Autonomic dysreflexia ,Neurology (clinical) ,medicine.symptom ,business - Abstract
Autonomic dysreflexia may occur following spinal cord injury above mid-thoracic level, commonly developing in the early posttraumatic period. Cardiovascular dysregulation is the most prominent feature, characterized by paroxysmal high blood pressure attacks, which are precipitated by distension of urinary bladder or bowels, skin wounds, or increased spastic muscle tone. Severe drops in blood pressure may occur in orthostatic conditions. Baclofen is effective for treating spasticity. While orally administered baclofen often fails to alleviate severe spasticity adequately, intrathecal baclofen (ITB) is more effective and thus is being used increasingly. A 61-year-old male sustained a cervical spinal cord injury, subsequently developing severe spastic tetraparesis, predominantly in the legs. Some 30 years later he experienced marked spasms of the muscles of the abdominal wall, leading to extreme fluctuations of blood pressure. After positive evaluation with ITB the patient underwent implantation of a pump-catheter-system for continuous ITB application. Abdominal wall spasms ceased entirely with a daily dose of 190 microg ITB, accompanied by a sustained normotensive blood pressure profile. However, spasms reoccurred after inadvertent reduction of ITB flow when increasing the pump's ITB concentration but subsided again when the optimal antispastic dose was reestablished. Baclofen per se has the potential of lowering blood pressure. In this patient, however, ITB treatment enabled permanent stabilization of insidious blood pressure fluctuations. It would appear that suppression of abdominal spasms prevented the triggering of dysautonomic crises. This case demonstrates that ITB administration may help to stabilize autonomic dysreflexia and orthostatic hypotension in patients with spinal cord lesions.
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- 2009
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5. Ipsi- and contralateral exteroceptive EMG modulation in uni- and bilaterally activated thenar muscles
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Markus Kofler and Katharina Poustka
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Adult ,Male ,Pain ,Stimulation ,Electromyography ,Nerve Fibers, Myelinated ,Functional Laterality ,Physiology (medical) ,Reflex ,medicine ,Humans ,Neurons, Afferent ,Muscle, Skeletal ,Nerve Endings ,medicine.diagnostic_test ,Neural Inhibition ,Anatomy ,musculoskeletal system ,Spinal cord ,Electric Stimulation ,Sensory Systems ,body regions ,Electrophysiology ,medicine.anatomical_structure ,Nociception ,Spinal Cord ,Thumb ,Neurology ,Female ,Silent period ,Neurology (clinical) ,medicine.symptom ,Psychology ,Muscle Contraction ,Muscle contraction - Abstract
Objective The cutaneous silent period (CSP) is a spinal inhibitory reflex mediated by A-δ fibers. The exact underlying neural pathway, however, is unknown. This study was undertaken to investigate whether the neural circuitry mediating CSPs is wired unilaterally or whether there is evidence of influence from or upon the contralateral side. Methods Fifteen healthy subjects underwent bilateral CSP testing following unilateral nociceptive digit II stimulation. Surface electromyographic (EMG) recordings were obtained bilaterally from thenar muscles following unilateral recurrent nociceptive digit II stimulation while activating the ipsilateral or the contralateral or both thenar muscles against resistance. Results Nociceptive digit II stimulation evoked consistent CSPs in ipsilateral thenar muscles during voluntary contraction, while there was no consistent influence on EMG activity in contralateral thenar muscles at rest. Furthermore, nociceptive digit II stimulation did neither consistently affect EMG activity in ipsilateral thenar muscles at rest nor in contralateral thenar muscles during voluntary contraction. Finally, there was no significant difference between any CSP parameters obtained during unilateral versus bilateral muscle contraction. Occasional late excitatory EMG activity in relaxed or contracted thenar muscles resembled startle reflexes, which seem to contribute to the post-inhibition EMG-rebound. Conclusions The present findings are consistent with unilateral wiring of the spinal circuitry mediating CSPs. Significance The essential lack of a crossed inhibitory influence of nociceptive digit II stimulation underscores the utility of CSP testing in the assessment of the A-δ fiber system in healthy subjects and patients with various pathologies.
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- 2005
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6. Interside comparison of cutaneous silent periods in thenar muscles of healthy male and female subjects
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Katharina Poustka and Markus Kofler
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Adult ,Male ,medicine.medical_specialty ,animal structures ,Electromyography ,Audiology ,Nerve Fibers, Myelinated ,complex mixtures ,Functional Laterality ,Reference Values ,Physiology (medical) ,Reflex ,parasitic diseases ,Reaction Time ,medicine ,Humans ,Latency (engineering) ,Muscle, Skeletal ,Sex Characteristics ,medicine.diagnostic_test ,fungi ,Motor control ,Neural Inhibition ,Sensory Systems ,Surgery ,Electrophysiology ,Nociception ,Spinal Cord ,Thumb ,Neurology ,Sensory Thresholds ,Laterality ,Female ,Silent period ,Neurology (clinical) ,Psychology - Abstract
Objective : The cutaneous silent period (CSP) is a spinal inhibitory reflex mediated by A-δ fibers. To date, no data are available about normal interside differences. Methods : Twenty healthy subjects underwent comparison of CSPs in the dominant and non-dominant hand. Surface electromyographic (EMG) recordings were obtained from thenar muscles on either side following ipsilateral recurrent nociceptive digit II stimulation. Results : Group average CSP onset and end latency, CSP duration, and the magnitude of EMG suppression were not significantly different between both sides. Regression analysis revealed powerful correlations between individual CSP parameters of dominant and non-dominant hands. Calculated upper normal limits of maximum interside differences were 17% for CSP onset latency, 14% for CSP end latency, 22% for CSP duration, and 45% for the index of suppression. CSP parameters in right-handed subjects did not differ significantly from those in left-handed subjects. Female subjects tended to have shorter CSP onset latencies, longer CSP duration, and a smaller index of suppression, resulting in a larger overall suppression. Conclusions : CSPs prove to be robust nociceptive cutaneomuscular reflexes with little side-to-side difference. Significance : The presented normative values of interside differences enable a more thorough comparison with patient data in various conditions.
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- 2004
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7. Antibody response to myelin oligodendrocyte glycoprotein and myelin basic protein depend on familial background and are partially associated with human leukocyte antigen alleles in multiplex families and sporadic multiple sclerosis
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Katharina Poustka, Markus Reindl, Thomas Berger, Andreas Lutterotti, Kathrin Schanda, Christoph Gassner, and F. Deisenhammer
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Adult ,Male ,Multiple Sclerosis ,Genotype ,Immunology ,Genes, MHC Class II ,Human leukocyte antigen ,Myelin oligodendrocyte glycoprotein ,Gene Frequency ,immune system diseases ,HLA-DQ Antigens ,medicine ,Immunology and Allergy ,HLA-DQ beta-Chains ,Humans ,HLA-DRB1 ,Alleles ,Autoantibodies ,Family Health ,biology ,Myelin-associated glycoprotein ,HLA-DQ Antigen ,Multiple sclerosis ,Autoantibody ,hemic and immune systems ,Myelin Basic Protein ,HLA-DR Antigens ,Middle Aged ,medicine.disease ,Virology ,nervous system diseases ,Myelin basic protein ,Myelin-Associated Glycoprotein ,nervous system ,Neurology ,biology.protein ,Female ,Myelin-Oligodendrocyte Glycoprotein ,Neurology (clinical) ,Myelin Proteins - Abstract
We investigated the association of the antibody response to myelin oligodendrocyte glycoprotein (MOG) and myelin basic protein (MBP) with human leukocyte antigen (HLA) class II alleles in 41 patients with sporadic multiple sclerosis (MS) and 12 multiplex MS families. We found significantly increased antibody response to MOG and MBP in MS patients without any difference to asymptomatic relatives. HLA DRB1*04 was associated with IgM reactivity to MOG in MS patients, and DRB1*15 and DRB5 with anti-MOG IgA among asymptomatic relatives. We conclude that antibody responses to MOG and MBP depend on familial background. Moreover, the humoral immune reactivity against MOG is partially under control of certain HLA class II alleles.
- Published
- 2002
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