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Fietzek U.M.,Center For Parkinsons Disease And Movement Disorders | Schroeder A.S.,Ludwig Maximilians University of Munich | Wissel J.,Neurologische Rehabilitationsklinik | Heinen F.,Ludwig Maximilians University of Munich | And 2 more authors.
Movement Disorders | Year: 2010

A standardization of injection procedures for the various botulinum toxin (BoNT) indications has not been achieved to date. One established option to guide the therapist's needle is sonography guidance. It provides real-time visualization of the injection process, which is quick, allows perfect precision, and the procedure as such is painless. To demonstrate these qualities, we have recorded six split-screen video segments that show the handling of the probe and the needle during BoNT injections concurrently with the respective crosssectional sonography recordings. The video sequences show differentiation of the pollicis longus muscle and individual finger flexor fascicles, needle tracking, and real-time sonography-guided injection of the gastrocnemius, rectus femoris, and iliopsoas muscles. We hope this short presentation will help to encourage a more widespread use of the technique as well as further research on sonography guidance for precise delivery of BoNT injections to various target muscles. © 2010 Movement Disorder Society.

Niazmand K.,TU Munich | Tonn K.,TU Munich | Kalaras A.,TU Munich | Fietzek U.M.,Center For Parkinsons Disease And Movement Disorders | And 2 more authors.
Proceedings - IEEE Symposium on Computer-Based Medical Systems | Year: 2011

Parkinson's disease (PD) is a chronic neurodegenerative movement disorder. The motor status of patients with PD can be characterized by the Unified Parkinson's disease rating scale (UPDRS). However, the UPDRS evaluates the movement disorders on a descriptive level only. Diagnosis and therapy of PD could be augmented if a quantitative assessment could be implemented. Thus, a wireless wearable sensor system for the evaluation of severity of motor dysfunction in PD was developed. The system was integrated into a smart glove. This glove has two touch sensors, two 3D-accelerometers and a force sensor to assess the cardinal motor symptoms of PD (bradykinesia, tremor and rigidity of hand and arm). In this paper we describe the setup of the glove and initial results. © 2011 IEEE.

Wieczorek D.,University of Duisburg - Essen | Newman W.G.,University of Manchester | Wieland T.,Helmholtz Center Munich | Berulava T.,University of Duisburg - Essen | And 43 more authors.
American Journal of Human Genetics | Year: 2014

Mutations in components of the major spliceosome have been described in disorders with craniofacial anomalies, e.g., Nager syndrome and mandibulofacial dysostosis type Guion-Almeida. The U5 spliceosomal complex of eight highly conserved proteins is critical for pre-mRNA splicing. We identified biallelic mutations in TXNL4A, a member of this complex, in individuals with Burn-McKeown syndrome (BMKS). This rare condition is characterized by bilateral choanal atresia, hearing loss, cleft lip and/or palate, and other craniofacial dysmorphisms. Mutations were found in 9 of 11 affected families. In 8 families, affected individuals carried a rare loss-of-function mutation (nonsense, frameshift, or microdeletion) on one allele and a low-frequency 34 bp deletion (allele frequency 0.76%) in the core promoter region on the other allele. In a single highly consanguineous family, formerly diagnosed as oculo-oto-facial dysplasia, the four affected individuals were homozygous for a 34 bp promoter deletion, which differed from the promoter deletion in the other families. Reporter gene and in vivo assays showed that the promoter deletions led to reduced expression of TXNL4A. Depletion of TXNL4A (Dib1) in yeast demonstrated reduced assembly of the tri-snRNP complex. Our results indicate that BMKS is an autosomal-recessive condition, which is frequently caused by compound heterozygosity of low-frequency promoter deletions in combination with very rare loss-of-function mutations. © 2014 The American Society of Human Genetics.

Sutton A.C.,Albany Medical College | Yu W.,Albany Medical College | Calos M.E.,Albany Medical College | Smith A.B.,Albany Medical College | And 7 more authors.
Journal of Neurophysiology | Year: 2013

Deep brain stimulation (DBS) employing high-frequency stimulation (HFS) is commonly used in the globus pallidus interna (GPi) and the subthalamic nucleus (STN) for treating motor symptoms of patients with Parkinson's disease (PD). Although DBS improves motor function in most PD patients, disease progression and stimulation-induced nonmotor complications limit DBS in these areas. In this study, we assessed whether stimulation of the substantia nigra pars reticulata (SNr) improved motor function. Hemiparkinsonian rats predominantly touched with their unimpaired forepaw >90% of the time in the stepping and limb-use asymmetry tests. After SNr-HFS (150 Hz), rats touched equally with both forepaws, similar to naive and shamlesioned rats. In vivo, SNr-HFS decreased beta oscillations (12-30 Hz) in the SNr of freely moving hemiparkinsonian rats and decreased SNr neuronal spiking activity from 28 ± 1.9 Hz before stimulation to 0.8 ± 1.9 Hz during DBS in anesthetized animals; also, neuronal spiking activity increased from 7 ± 1.6 to 18 ± 1.6 Hz in the ventromedial portion of the thalamus (VM), the primary SNr efferent. In addition, HFS of the SNr in brain slices from normal and reserpinetreated rat pups resulted in a depolarization block of SNr neuronal activity. We demonstrate improvement of forelimb akinesia with SNr-HFS and suggest that this motor effect may have resulted from the attenuation of SNr neuronal activity, decreased SNr beta oscillations, and increased activity of VM thalamic neurons, suggesting that the SNr may be a plausible DBS target for treating motor symptoms of DBS. © 2013 the American Physiological Society.

Lehnerer S.M.,Center For Parkinsons Disease And Movement Disorders | Fietzek U.M.,Center For Parkinsons Disease And Movement Disorders | Messner M.,Center For Parkinsons Disease And Movement Disorders | Ceballos-Baumann A.O.,Center For Parkinsons Disease And Movement Disorders | Ceballos-Baumann A.O.,TU Munich
Journal of Neural Transmission | Year: 2014

Continuous jejunal levodopa infusion is an increasingly used therapy option in patients with Parkinson’s disease who experience severe fluctuations from oral levodopa. In a number of recent reports polyneuropathy in patients receiving jejunal levodopa infusion was referenced to cobalamin (vitamin B12) deficiency. We describe one of three cases from our hospital with severe subacute polyneuropathy that developed during jejunal levodopa infusion, and occurred despite vitamin substitution therapy and normal vitamin B12 and holotranscobalamin serum levels. © Springer-Verlag Wien 2014.

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