- Dystonia-plus syndromes
Department of Neurodegenerative Disease, Hertie Institute for Clinical Brain Research, University of Tuebingen, Tuebingen, Germany
Eur J Neurol 17:37-45. 2010
..Recently, a novel form of dystonia-parkinsonism (DYT16) has been found to be linked to mutations in the PRKRA gene, whose relation to basal ganglia disorders is yet unknown ...
- Reverse sensory geste in cervical dystonia
Department of Neurodegenerative Diseases, Center of Neurology, Hertie Institute for Clinical Brain Research, Tuebingen, Germany
Mov Disord 24:297-300. 2009
..Assessment of rSG should be included in the routine examination of CD patients, since BTX treatment may have to beadjusted accordingly to be efficacious...
- Kick and rush: paradoxical kinesia in Parkinson disease
Dystonia Genetics Unit, Hertie Institute for Clinical Brain Research, Center of Neurology, University of Tuebingen, Otfried Müller Str 27, 4th Floor, D 72076 Tuebingen, Germany
Neurology 71:695. 2008
- Strong genetic evidence for association of TOR1A/TOR1B with idiopathic dystonia
Department of Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research, University of Tuebingen, Hoppe Seyler Str 3, 72086 Tuebingen, Germany
Neurology 67:1857-9. 2006
..000008, in a larger cohort of German and Austrian patients with predominantly focal sporadic dystonia...
- A novel TITF-1 mutation causes benign hereditary chorea with response to levodopa
Department of Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research, Tuebingen, Germany
Neurology 64:1952-4. 2005
..Surprisingly, treatment with levodopa improved gait dramatically and reduced chorea in two patients. Dopaminergic drugs should be considered a useful therapeutic option in BHC...
- A novel clinical syndrome revealing a deficiency of the muscarinic M3 receptor
J K Pomper
Department of Cognitive Neurology, Hertie Institute for Clinical Brain Research, University of Tubingen, 72076 Tubingen, Germany
Neurology 76:451-5. 2011
..No clinical disorders have been caused by dysfunction of any of the 5 subtypes (M1-M5) of muscarinic receptors. We present a patient with a novel clinical syndrome that we suggest results from a deficiency of the muscarinic M3 receptor...
- The role of alpha-synuclein gene multiplications in early-onset Parkinson's disease and dementia with Lewy bodies
Department of Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research, University of Tubingen, Germany
J Neural Transm (Vienna) 112:1249-54. 2005
..A triplication of the alpha-synuclein gene was found to cause autosomal dominant Lewy body disease in two distinct families...
- Excellent response to apomorphine in Parkinsonism with optic atrophy unresponsive to oral antiparkinsonian medication
Department of Neurology, Klinikum Grosshadern, Ludwig Maximilians University, Munich, Germany
Mov Disord 21:1523-5. 2006
..The severe motor symptoms of both patients were conspicuously alleviated by apomorphine delivered subcutaneously. One patient underwent bilateral subthalamic nucleus deep brain stimulation, which also proved effective...
- Ultrasound-guided injection of the iliopsoas muscle with botulinum toxin in camptocormia
Rainer von Coelln
Department for Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research, University of Tuebingen, Tuebingen, Germany
Mov Disord 23:889-92. 2008
..In conclusion, injection of BTX into the iliopsoas does not appear to be a promising approach for the treatment of parkinsonism-associated camptocormia...
- PARK11 is not linked with Parkinson's disease in European families
Hertie Institute for Clinical Brain Research, Department of Neurodegenerative Diseases, University of Tuebingen, Hoppe Seyler Str 3, 72076 Tuebingen, Germany
Eur J Hum Genet 13:193-7. 2005
..Therefore, PARK11 does not seem to play a major role for familial PD in the European population...
- The PARK8 locus in autosomal dominant parkinsonism: confirmation of linkage and further delineation of the disease-containing interval
Hertie Institute for Clinical Brain Research, Department for Neurodegenerative Diseases, University of Tuebingen, Tuebingen, Germany
Am J Hum Genet 74:11-9. 2004
..7 Mb). Our data provide evidence that the PARK8 locus is responsible for the disease in a subset of families of white ancestry with autosomal dominant parkinsonism, suggesting that it could be a more common locus...
- Point mutations in exon 1 of the NR4A2 gene are not a major cause of familial Parkinson's disease
Neurogenetics 4:219-20. 2003