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Haidar Salimi Dafsari, Prashanth Reddy, Christiane Herchenbach, Stefanie Wawro, Jan Niklas Petry-Schmelzer, Veerle Visser-Vandewalle, Alexandra Rizos, Monty Silverdale, Keyoumars Ashkan, Michael Samuel, Julian Evans, Carlo A Huber, Gereon R Fink, Angelo Antonini, K Ray Chaudhuri, Pablo Martinez-Martin, Lars Timmermann
BACKGROUND: STN-DBS is well established to improve motor symptoms and quality of life in patients with PD. While non-motor symptoms are crucial for quality of life in these patients, only neuropsychiatric and neuropsychological symptoms have been systematically studied in a longitudinal design so far. However, these are only a part of the non-motor symptoms spectrum. HYPOTHESIS: We hypothesized that STN-DBS is associated with a beneficial effect on a range of non-motor symptoms...
January 2016: Brain Stimulation
Hormos Salimi Dafsari, Susan Byrne, Jean-Pierre Lin, Matthew Pitt, Jan Dh Jongbloed, Frances Flinter, Heinz Jungbluth
Goldberg-Shprintzen megacolon syndrome (GOSHS) (OMIM 609460) is characterized by a combination of learning difficulties, characteristic dysmorphic features and Hirschsprung's disease. Variable clinical features include iris coloboma, congenital heart defects and central nervous system abnormalities, in particular polymicrogyria. GOSHS has been attributed to recessive mutations in KIAA1279, encoding kinesin family member (KIF)-binding protein (KBP) with a crucial role in neuronal microtubule dynamics. Here we report on a 7-year-old girl with GOSHS as a result of a homozygous deletion of exons 5 and 6 of the KIAA1279 gene...
June 2015: American Journal of Medical Genetics. Part A
Pablo Martinez-Martin, Prashanth Reddy, Regina Katzenschlager, Angelo Antonini, Antoniya Todorova, Per Odin, Tove Henriksen, Anne Martin, Daniela Calandrella, Alexandra Rizos, Narissah Bryndum, Arne Glad, Haidar Salimi Dafsari, Lars Timmermann, Georg Ebersbach, Milica G Kramberger, Michael Samuel, Karoline Wenzel, Volker Tomantschger, Alexander Storch, Heinz Reichmann, Zvezdan Pirtosek, Maja Trost, Per Svenningsson, Sven Palhagen, Jens Volkmann, K Ray Chaudhuri
Subcutaneous apomorphine infusion (Apo) and intrajejunal levodopa infusion (IJLI) are two treatment options for patients with advanced Parkinson's disease (PD) and refractory motor complications, with varying cost of treatment. There are no multicenter studies comparing the effects of the two strategies. This open-label, prospective, observational, 6-month, multicenter study compared 43 patients on Apo (48.8% males, age 62.3 ± 10.6 years; disease duration: 14 ± 4.4 years; median H & Y stage 3; interquartile range [IQR]: 3-4) and 44 on IJLI (56...
April 2015: Movement Disorders: Official Journal of the Movement Disorder Society
E Florin, H S Dafsari, C Reck, M T Barbe, K A M Pauls, M Maarouf, V Sturm, G R Fink, L Timmermann
Investigations of local field potentials of the subthalamic nucleus of patients with Parkinson's disease have provided evidence for pathologically exaggerated oscillatory beta-band activity (13-30 Hz) which is amenable to physiological modulation by, e.g., voluntary movement. Previous functional magnetic resonance imaging studies in healthy controls have provided evidence for an increase of subthalamic nucleus blood-oxygenation-level-dependant signal in incremental force generation tasks. However, the modulation of neuronal activity by force generation and its relationship to peripheral feedback remain to be elucidated...
June 14, 2013: Neuroscience
L Timmermann, C Eggers, H Salimi Dafsari, K A M Pauls, M T Barbe
Idiopathic Parkinson's disease is still a clinical diagnosis. However, modern imaging and nuclear techniques allow very early diagnosis and lead to higher security in the differential diagnosis between idiopathic Parkinson's disease and atypical Parkinson syndromes. At early stages of the disease, modification of disease progression and symptom control are key factors of the therapy. Continuous dopaminergic stimulation is even more important at later stages with first fluctuations. In stages where conservative medical options have been exhausted continuous pump therapies with Duodopa and apomorphine are attractive options...
October 2012: Fortschritte der Neurologie-Psychiatrie
David J Pedrosa, Christiane Reck, Esther Florin, K Amande M Pauls, Mohammad Maarouf, Lars Wojtecki, Haidar Salimi Dafsari, Volker Sturm, Alfons Schnitzler, Gereon R Fink, Lars Timmermann
Different tremor entities such as Essential Tremor (ET) or tremor in Parkinson's disease (PD) can be ameliorated by the implantation of electrodes in the ventral thalamus for Deep Brain Stimulation (DBS). The exact neural mechanisms underlying this treatment, as well as the specific pathophysiology of the tremor in both diseases to date remain elusive. Since tremor-related local field potentials (LFP) have been shown to cluster with a somatotopic representation in the subthalamic nucleus, we here investigated the neurophysiological correlates of tremor in the ventral thalamus in ET and PD using power and coherence analysis...
October 2012: Experimental Neurology
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