Thomas Gasser

Summary

Country: Germany

Publications

  1. ncbi request reprint Leucine-rich repeat kinase 1: a paralog of LRRK2 and a candidate gene for Parkinson's disease
    Julie P Taylor
    Department of Neuroscience, Mayo Clinic College of Medicine, Jacksonville, FL 32224, USA
    Neurogenetics 8:95-102. 2007
  2. ncbi request reprint Genetics of Parkinson's disease
    Thomas Gasser
    Department of Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research, University of Tubingen, Tubingen, Germany
    Curr Opin Neurol 18:363-9. 2005
  3. ncbi request reprint The transcription factor PITX3 is associated with sporadic Parkinson's disease
    Julia Fuchs
    Hertie Institute for Clinical Brain Research, Department of Neurodegenerative Diseases, University of Tubingen, Otfried Muller Strasse 27, 72076 Tubingen, Germany
    Neurobiol Aging 30:731-8. 2009
  4. doi request reprint "Jerky" dystonia in children: spectrum of phenotypes and genetic testing
    Friedrich Asmus
    Department of Neurodegenerative Disease, Hertie Institute for Clinical Brain Research, Center of Neurology, University of Tuebingen, Tuebingen, Germany
    Mov Disord 24:702-9. 2009
  5. doi request reprint Clinical and brain imaging characteristics in leucine-rich repeat kinase 2-associated PD and asymptomatic mutation carriers
    Kathrin Brockmann
    Department of Neurodegenerative Diseases and Hertie Institute for Clinical Brain Research, University of Tubingen, Tubingen, Germany
    Mov Disord 26:2335-42. 2011
  6. doi request reprint A single-nucleotide polymorphism of the osteopontin gene may contribute to a susceptibility to Lewy body disease
    Walter Maetzler
    Department of Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research, University of Tuebingen, Tubingen, Germany
    J Neural Transm 116:599-605. 2009
  7. doi request reprint GBA-associated PD. Neurodegeneration, altered membrane metabolism, and lack of energy failure
    Kathrin Brockmann
    Department of Neurodegenerative Diseases and Hertie Institute for Clinical Brain Research, University of Tubingen, Tubingen, Germany
    Neurology 79:213-20. 2012
  8. doi request reprint Genetic factors influencing age at onset in LRRK2-linked Parkinson disease
    Yulia Golub
    Department of Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research, University of Tubingen, Germany
    Parkinsonism Relat Disord 15:539-41. 2009
  9. ncbi request reprint Genomic deletion size at the epsilon-sarcoglycan locus determines the clinical phenotype
    Friedrich Asmus
    Department of Neurodegeneration, Hertie Institute for Clinical Brain Research, Center of Neurology, University of Tuebingen, Tuebingen, Germany
    Brain 130:2736-45. 2007
  10. pmc Identification of novel Angiogenin (ANG) gene missense variants in German patients with amyotrophic lateral sclerosis
    Rubén Fernández-Santiago
    Department for Neurodegenerative Disorders, Hertie Institute for Clinical Brain Research, Eberhard Karls University, Tuebingen, Germany
    J Neurol 256:1337-42. 2009

Detail Information

Publications109 found, 100 shown here

  1. ncbi request reprint Leucine-rich repeat kinase 1: a paralog of LRRK2 and a candidate gene for Parkinson's disease
    Julie P Taylor
    Department of Neuroscience, Mayo Clinic College of Medicine, Jacksonville, FL 32224, USA
    Neurogenetics 8:95-102. 2007
    ..Comparison of evolutionary interspecies sequences of LRRK1 and LRRK2 suggests they diverged from a common founder gene...
  2. ncbi request reprint Genetics of Parkinson's disease
    Thomas Gasser
    Department of Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research, University of Tubingen, Tubingen, Germany
    Curr Opin Neurol 18:363-9. 2005
    ....
  3. ncbi request reprint The transcription factor PITX3 is associated with sporadic Parkinson's disease
    Julia Fuchs
    Hertie Institute for Clinical Brain Research, Department of Neurodegenerative Diseases, University of Tubingen, Otfried Muller Strasse 27, 72076 Tubingen, Germany
    Neurobiol Aging 30:731-8. 2009
    ..004) with PD. The C-allele appears to be a recessive risk allele with an estimated population frequency of 83%. An allele-dependent dysregulation of PITX3 expression might contribute to the susceptibility to PD...
  4. doi request reprint "Jerky" dystonia in children: spectrum of phenotypes and genetic testing
    Friedrich Asmus
    Department of Neurodegenerative Disease, Hertie Institute for Clinical Brain Research, Center of Neurology, University of Tuebingen, Tuebingen, Germany
    Mov Disord 24:702-9. 2009
    ..A causative gene for D-PMM remains to be identified...
  5. doi request reprint Clinical and brain imaging characteristics in leucine-rich repeat kinase 2-associated PD and asymptomatic mutation carriers
    Kathrin Brockmann
    Department of Neurodegenerative Diseases and Hertie Institute for Clinical Brain Research, University of Tubingen, Tubingen, Germany
    Mov Disord 26:2335-42. 2011
    ..Substantia nigra hyperechogenicity in yet unaffected LRRK2 mutation carriers indicates morphologic alterations in an asymptomatic stage of disease...
  6. doi request reprint A single-nucleotide polymorphism of the osteopontin gene may contribute to a susceptibility to Lewy body disease
    Walter Maetzler
    Department of Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research, University of Tuebingen, Tubingen, Germany
    J Neural Transm 116:599-605. 2009
    ..61, 95% CI 0.66-3.91, P = 0.29). Genotype prevalence and OPN levels were not significantly related. These findings suggest that OPN is associated with the occurrence of Lewy body disease and SNP-66 may be a susceptibility factor...
  7. doi request reprint GBA-associated PD. Neurodegeneration, altered membrane metabolism, and lack of energy failure
    Kathrin Brockmann
    Department of Neurodegenerative Diseases and Hertie Institute for Clinical Brain Research, University of Tubingen, Tubingen, Germany
    Neurology 79:213-20. 2012
    ....
  8. doi request reprint Genetic factors influencing age at onset in LRRK2-linked Parkinson disease
    Yulia Golub
    Department of Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research, University of Tubingen, Germany
    Parkinsonism Relat Disord 15:539-41. 2009
    ....
  9. ncbi request reprint Genomic deletion size at the epsilon-sarcoglycan locus determines the clinical phenotype
    Friedrich Asmus
    Department of Neurodegeneration, Hertie Institute for Clinical Brain Research, Center of Neurology, University of Tuebingen, Tuebingen, Germany
    Brain 130:2736-45. 2007
    ....
  10. pmc Identification of novel Angiogenin (ANG) gene missense variants in German patients with amyotrophic lateral sclerosis
    Rubén Fernández-Santiago
    Department for Neurodegenerative Disorders, Hertie Institute for Clinical Brain Research, Eberhard Karls University, Tuebingen, Germany
    J Neurol 256:1337-42. 2009
    ....
  11. ncbi request reprint Genetic variability in the SNCA gene influences alpha-synuclein levels in the blood and brain
    Julia Fuchs
    University of Tubingen, Hertie Institute for Clinical Brain Research, Department of Neurodegenerative Diseases, Hoppe Seyler Str 3, 72076 Tubingen, Germany
    FASEB J 22:1327-34. 2008
    ..In conclusion, we provide evidence that alpha-synuclein levels are influenced by genetic variability in the promoter and 3' region of the SNCA gene in vivo...
  12. doi request reprint Rivastigmine for the treatment of dementia in patients with progressive supranuclear palsy: Clinical observations as a basis for power calculations and safety analysis
    Iuga Liepelt
    Center of Neurology, Department of Neurodegeneration, and Hertie Institute of Clinical Brain Research, University of Tubingen, Germany
    Alzheimers Dement 6:70-4. 2010
    ..In subtests, meaningful results can be obtained with even lower numbers (five patients for a verbal fluency test, and 14 patients for a logical memory task)...
  13. doi request reprint Deep-brain-stimulation does not impair deglutition in Parkinson's disease
    Sabrina Lengerer
    Department for Neurodegenerative Diseases and Hertie Institute for Clinical Brain Research, University of Tubingen, Hoppe Seyler Straße 3, 72076 Tubingen, Germany
    Parkinsonism Relat Disord 18:847-53. 2012
    ..e., aspirational pneumonia. So far, little is known on how deep-brain-stimulation of the subthalamic nucleus influences deglutition in PD...
  14. pmc A multi-centre clinico-genetic analysis of the VPS35 gene in Parkinson disease indicates reduced penetrance for disease-associated variants
    Manu Sharma
    Department of Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research and DZNE German Center for Neurodegenerative Diseases, Tubingen, Hoppe Seyler Str 3, Tubingen 72076, Germany
    J Med Genet 49:721-6. 2012
    ..Asp620Asn) in the vacuolar protein sorting 35 gene as a cause for an autosomal dominant form of Parkinson disease . Although additional missense variants were described, their pathogenic role yet remains inconclusive...
  15. pmc Large-scale replication and heterogeneity in Parkinson disease genetic loci
    Manu Sharma
    Department for Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research, University of Tubingen, Tubingen, Germany
    Neurology 79:659-67. 2012
    ..The extent to which these genetic effects are consistent across different populations is unknown...
  16. ncbi request reprint Clinical differentiation of genetically proven benign hereditary chorea and myoclonus-dystonia
    Friedrich Asmus
    Department of Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research, Center of Neurology, University of Tuebingen, Tuebingen, Germany
    Mov Disord 22:2104-9. 2007
    ..TITF-1 mutations should be considered in choreiform movement disorders with onset in infancy even in the presence of dystonia and myoclonic jerks...
  17. doi request reprint A large-scale genetic association study to evaluate the contribution of Omi/HtrA2 (PARK13) to Parkinson's disease
    Rejko Kruger
    Laboratory of Functional Neurogenomics, Center of Neurology and Hertie Institute for Clinical Brain Research, University of Tubingen, Germany
    Neurobiol Aging 32:548.e9-18. 2011
    ..This largest association study performed to define the role of any gene in the pathogenesis of Parkinson's disease revealed no overall strong association of Omi/HtrA2 variants with PD in populations worldwide...
  18. doi request reprint Neprilysin activity in cerebrospinal fluid is associated with dementia and amyloid-β42 levels in Lewy body disease
    Walter Maetzler
    Center of Neurology, Department of Neurodegeneration, Hertie Institute for Clinical Brain Research, University of Tuebingen, Tuebingen, Germany
    J Alzheimers Dis 22:933-8. 2010
    ..Serum NEP activity levels were not significantly different between the groups. We conclude that, in Lewy body disease, CSF NEP activity levels are associated with dementia, probably via the Aβ pathway...
  19. doi request reprint Identifying PD-causing genes and genetic susceptibility factors: current approaches and future prospects
    Thomas Gasser
    Hertie Institute for Clinical Brain Research, Department of Neurodegenerative Diseases, Tubingen, Germany
    Prog Brain Res 183:3-20. 2010
    ..These findings provide the 'genetic entry points' to identify molecular targets and readouts necessary to design rational disease-modifying treatments...
  20. ncbi request reprint Influence of lithium treatment on GDNF serum and CSF concentrations in patients with early Alzheimer's disease
    Guido Straten
    Depatment of Anesthesiology and Intensive Care, University of Tubingen, Germany
    Curr Alzheimer Res 8:853-9. 2011
    ..3 ± 37.4 pg/ml versus 72.8 ± 43.9 pg/ml, p = 0.511). The findings of the present investigation indicated that beneficial effects of the lithium treatment might reduce the necessity of enhanced GDNF expression in the CNS in early AD...
  21. doi request reprint The specificity and sensitivity of transcranial ultrasound in the differential diagnosis of Parkinson's disease: a prospective blinded study
    Alexandra Gaenslen
    Center of Neurology, Department of Neurodegeneration and Hertie Institute of Clinical Brain Research, University of Tubingen, Germany
    Lancet Neurol 7:417-24. 2008
    ..We aimed to determine the diagnostic value of TCS in the early stages of parkinsonian syndromes, when the clinical symptoms often do not enable a definite diagnosis to be made...
  22. doi request reprint No evidence of association of FLJ10986 and ITPR2 with ALS in a large German cohort
    Rubén Fernández-Santiago
    Department for Neurodegenerative Disorders, Hertie Institute for Clinical Brain Research, Eberhard Karls University, Otfried Muller Strasse 27, 72076, Tuebingen, Germany
    Neurobiol Aging 32:551.e1-4. 2011
    ..Our results did not provide evidence for the association of these SNPs with SALS, suggesting a possible population-specific effect for FLJ10986 and ITPR2 that do not modulate the risk for SALS in the German population...
  23. doi request reprint Role of sepiapterin reductase gene at the PARK3 locus in Parkinson's disease
    Manu Sharma
    Center of Neurology and Hertie Institute for Clinical Brain Research, University of Tubingen, Tuebingen, Germany
    Neurobiol Aging 32:2108.e1-5. 2011
    ..However, taking the initial mapping of the PARK3 into account, the role of a population-specific effect warrants consideration in future studies...
  24. ncbi request reprint Transcranial ultrasound in different monogenetic subtypes of Parkinson's disease
    Katherine J Schweitzer
    Hertie Institute for Clinical Brain Research, University of Tuebingen, Hoppe Seyler Str 3, 72076, Tuebingen, Germany
    J Neurol 254:613-6. 2007
    ..As SN hyperechogenicity could be related to an increased iron content of the SN, these findings suggest that iron may play a less significant role in the pathogenesis of monogenetically caused compared to idiopathic PD...
  25. doi request reprint Further delineation of the association signal on chromosome 5 from the first whole genome association study in Parkinson's disease
    Manu Sharma
    Hertie Institute for Clinical Brain Research, Department of Neurodegenerative Diseases, University of Tuebingen, Hoppe Seyler Strasse 3, 72076 Tuebingen, Germany
    Neurobiol Aging 30:1706-9. 2009
    ..In conclusion, our study did not lend support to the finding that the reported SNPs are directly influencing the susceptibility to sporadic form of PD at least in our population...
  26. doi request reprint Autoantibodies against amyloid and glial-derived antigens are increased in serum and cerebrospinal fluid of Lewy body-associated dementias
    Walter Maetzler
    Center of Neurology, Department of Neurodegeneration, Hertie Institute for Clinical Brain Research, University of Tuebingen, Tuebingen, Germany
    J Alzheimers Dis 26:171-9. 2011
    ..The potential of neural-derived IgG autoantibodies as part of a biomarker panel for the diagnosis of Lewy body-associated dementias should be further evaluated...
  27. doi request reprint Parkin protects mitochondrial genome integrity and supports mitochondrial DNA repair
    Oliver Rothfuss
    Department for Neurodegenerative Diseases, Center of Neurology and Hertie Institute for Clinical Brain Research, University of Tubingen, Germany
    Hum Mol Genet 18:3832-50. 2009
    ..Our data indicate a novel role for parkin in directly supporting mitochondrial function and protecting mitochondrial genomic integrity from oxidative stress...
  28. pmc Leucine-rich repeat kinase 2 induces alpha-synuclein expression via the extracellular signal-regulated kinase pathway
    Iria Carballo-Carbajal
    Department of Neurodegeneration, Hertie Institute for Clinical Brain Research, University Clinics Tübingen, Germany
    Cell Signal 22:821-7. 2010
    ..This pathway linking the two dominant PD genes LRRK2 and SNCA may offer an interesting target for drug therapy in both familial and sporadic disease...
  29. doi request reprint Clinical and molecular characterisation of a Parkinson family with a novel PINK1 mutation
    Jügen Prestel
    Hertie Institute for Clinical Brain Research, Dept for Neurodegenerative Diseases, University of Tuebingen, Hoppe Seyler Str 3, 72076 Tuebingen, Germany
    J Neurol 255:643-8. 2008
    ..MR spectroscopy revealed raised myoinositol levels in the basal ganglia of both patients, reflecting possible astroglial proliferation...
  30. doi request reprint Enlarged hyperechogenic substantia nigra is related to motor performance and olfaction in the elderly
    Daniela Berg
    Department of Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research, University of Tuebingen, Tuebingen, Germany
    Mov Disord 25:1464-9. 2010
    ..Whether the association of SN+ with both impaired motor performance and hyposmia as seen in this study predicts an increased risk for the development of PD needs to be evaluated in the follow-up investigations...
  31. doi request reprint Update on the genetics of Parkinson's disease
    Thomas Gasser
    Department of Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research, University of Tubingen, Tubingen, Germany
    Mov Disord 22:S343-50. 2007
    ..Further, it is likely that the cellular pathways identified in rare monogenic variants of the disease also shed light on the molecular pathogenesis in typical sporadic PD...
  32. ncbi request reprint [11C]PIB binding in Parkinson's disease dementia
    Walter Maetzler
    Hertie Institute for Clinical Brain Research, Department of Neurodegenerative Diseases, University of Tuebingen, Tuebingen, Germany
    Neuroimage 39:1027-33. 2008
    ..Furthermore, we provide evidence that--in addition to nonspecific binding--PIB uptake in the brainstem may also reflect PDD related amyloid...
  33. doi request reprint Reduced but not oxidized cerebrospinal fluid glutathione levels are lowered in Lewy body diseases
    Walter Maetzler
    Department of Neurodegeneration, Center of Neurology, Hertie Institute for Clinical Brain Research, University of Tuebingen, Tuebingen, Germany
    Mov Disord 26:176-81. 2011
    ..We hypothesize that alterations of the glutathione system occur in a very early stage of the disease or may even represent a risk marker for LBD...
  34. doi request reprint SNCA: Major genetic modifier of age at onset of Parkinson's disease
    Kathrin Brockmann
    Department of Neurodegenerative Diseases and Hertie Institute for Clinical Brain Research, University of Tubingen, Tubingen, Germany
    Mov Disord 28:1217-21. 2013
    ..2013 Movement Disorder Society. ..
  35. doi request reprint DJ-1 and prevention of oxidative stress in Parkinson's disease and other age-related disorders
    Philipp J Kahle
    Department of Neurodegeneration, Hertie Institute for Clinical Brain Research, University Clinics Tübingen, 72076 Tubingen, Germany
    Free Radic Biol Med 47:1354-61. 2009
    ..Augmenting DJ-1 activity might provide novel approaches to treating chronic neurodegenerative illnesses such as Parkinson's disease and acute damage such as stroke...
  36. doi request reprint Mendelian forms of Parkinson's disease
    Thomas Gasser
    Department of Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research, University of Tubingen, Tubingen, Germany
    Biochim Biophys Acta 1792:587-96. 2009
    ..Further, it is likely that the cellular pathways identified in rare monogenic variants of the disease also shed light on the molecular pathogenesis in typical sporadic PD...
  37. ncbi request reprint Osteopontin is elevated in Parkinson's disease and its absence leads to reduced neurodegeneration in the MPTP model
    Walter Maetzler
    Hertie Institute for Clinical Brain Research, Department of Neurodegenerative Diseases, University of Tuebingen, Otfried Mueller Strasse 27, 72076 Tuebingen, Germany
    Neurobiol Dis 25:473-82. 2007
    ..Loss of tyrosine-hydroxylase-positive cells in the SN and of dopaminergic fibers in the striatum was reduced 3 weeks after MPTP intoxication in OPN-null mice. These data suggest that OPN is involved in PD-associated neurodegeneration...
  38. doi request reprint Increased serum insulin-like growth factor 1 in early idiopathic Parkinson's disease
    Jana Godau
    Hertie Institute for Clinical Brain Research, Department of Neurodegeneration, Hoppe Seyler Str 3, D 72076 Tubingen, Germany
    J Neurol Neurosurg Psychiatry 81:536-8. 2010
    ..The aim of this study was to measure serum IGF-1 in patients with PD and assess its correlation with the clinical presentation...
  39. doi request reprint Genes associated with Parkinson syndrome
    Saskia Biskup
    Dept of Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research, University of Tubingen, Tubingen, Germany
    J Neurol 255:8-17. 2008
    ..Here we add recent findings to a greatly challenging puzzle...
  40. doi request reprint Use of support vector machines for disease risk prediction in genome-wide association studies: concerns and opportunities
    Florian Mittag
    Center for Bioinformatics Tuebingen ZBIT, University of Tuebingen, Tubingen, Germany
    Hum Mutat 33:1708-18. 2012
    ..The used software is available at http://www.ra.cs.uni-tuebingen.de/software/MACLEAPS/...
  41. doi request reprint Genomic and proteomic biomarkers for Parkinson disease
    Thomas Gasser
    Hertie Institute for Clinical Brain Research, Department of Neurodegenerative Diseases, Tubingen, Germany
    Neurology 72:S27-31. 2009
    ..However, because of the complex relationship of genotypes and phenotypes in neurodegenerative disorders, the development of useful biomarkers is still in an early phase...
  42. doi request reprint Increase of BDNF serum concentration in lithium treated patients with early Alzheimer's disease
    Thomas Leyhe
    Department of Psychiatry and Psychotherapy, University of Tubingen, Tubingen, Germany
    J Alzheimers Dis 16:649-56. 2009
    ..The results of the present investigation encourage performing studies with longer treatment phases to observe potential positive long-term effects of lithium in AD patients...
  43. ncbi request reprint State of the art review: molecular diagnosis of inherited movement disorders. Movement Disorders Society task force on molecular diagnosis
    Thomas Gasser
    Department of Neurology, Klinikum Grosshadern, Ludwig Maximilians University, Munich, Germany
    Mov Disord 18:3-18. 2003
    ..Huntington's disease, Parkinson's disease and parkinsonian syndromes, ataxias, Wilson disease, essential tremor, dystonias, and other genetic diseases associated with a variety of movement disorders are considered separately...
  44. doi request reprint The CST3 BB genotype and low cystatin C cerebrospinal fluid levels are associated with dementia in Lewy body disease
    Walter Maetzler
    Department of Neurodegeneration, University of Tuebingen, Germany
    J Alzheimers Dis 19:937-42. 2010
    ..We conclude that, in Lewy body disease, the CST3 BB genotype and low CSF CysC levels are associated with dementia, possibly through a disturbed elimination of soluble Abeta(42)...
  45. doi request reprint Periphilin is a novel interactor of synphilin-1, a protein implicated in Parkinson's disease
    Anne S Soehn
    Department of Medical Genetics, University of Tuebingen, Tuebingen, Germany
    Neurogenetics 11:203-15. 2010
    ..Searching for mutations in the periphilin gene, we detected a K69E substitution in two patients of a PD family. Taken together, these findings support for the first time an involvement of periphilin in PD...
  46. doi request reprint No differences of butyrylcholinesterase protein activity and allele frequency in Lewy body diseases
    Walter Maetzler
    Center of Neurology, Department of Neurodegeneration and Hertie Institute for Clinical Brain Research, University of Tuebingen, Otfried Muller Strasse 27, Tuebingen D 72076, Germany
    Neurobiol Dis 35:296-301. 2009
    ..These data confirm and extend previous results on the relationship between BChE gene and BuChE activity, and argue rather against a major impact of BuChE on LBD-associated pathologies...
  47. ncbi request reprint Sonographic abnormalities of brainstem structures in restless legs syndrome
    Jana Godau
    Hertie Institute for Clinical Brain Research and Center of Neurology, Department of Neurodegeneration, Hoppe Seyler Str 3, University of Tuebingen, 72076 Tuebingen, Germany
    Sleep Med 9:782-9. 2008
    ..The aim of this study was to validate SN hypoechogenicity as a morphological marker for RLS in a large patient cohort and to investigate further RLS-associated brain abnormalities using TCS...
  48. doi request reprint Changing the research criteria for the diagnosis of Parkinson's disease: obstacles and opportunities
    Daniela Berg
    Department of Neurodegeneration, Hertie Institute of Clinical Brain Research, University of Tubingen, 72070 Tübingen, Germany
    Lancet Neurol 12:514-24. 2013
    ..Specific advances in each tier, bridged by neuroimaging and biochemical data, will eventually lead to a redefinition of Parkinson's disease...
  49. ncbi request reprint Myoclonus-dystonia due to genomic deletions in the epsilon-sarcoglycan gene
    Friedrich Asmus
    Department of Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research, Tubingen, Germany
    Ann Neurol 58:792-7. 2005
    ..SGCE exon dosage assays may identify additional families with SGCE mutation and thus reduce "genetic heterogeneity."..
  50. doi request reprint Nutrition and the risk for Parkinson's disease: review of the literature
    Alexandra Gaenslen
    Department of Neurodegeneration, Hertie Institute for Clinical Brain Research and Center of Neurology, University of Tubingen, Tubingen, Germany
    J Neural Transm 115:703-13. 2008
    ..However, dietary factors are difficult to assess. This review gives an overview on epidemiological studies addressing a possible relation of dietary compounds and the risk for PD...
  51. doi request reprint Milestones in PD genetics
    Thomas Gasser
    Hertie Institute for Clinical Brain Research, Department of Neurodegenerative Diseases, and German Center for Neurodegenerative Diseases, Tubingen, Germany
    Mov Disord 26:1042-8. 2011
    ..These findings may provide the "genetic entry points" to identify molecular targets and readouts necessary to design rational disease-modifying treatments...
  52. doi request reprint Involuntary eyelid closure after STN-DBS: evidence for different pathophysiological entities
    Daniel Weiss
    Center of Neurology, Hertie Institute for Clinical Brain Research, and German Center for Neurodegenerative Diseases DZNE, University of Tubingen, Tubingen, Germany
    J Neurol Neurosurg Psychiatry 81:1002-7. 2010
    ..To gain insight into the hitherto undefined pathophysiology of IEC after STN-DBS, we performed a comprehensive clinical and electrophysiological characterisation of lid function in a total of six PD patients...
  53. ncbi request reprint Predictive value of transcranial sonography in the diagnosis of Parkinson's disease
    Jürgen Prestel
    Hertie Institute for Clinical Brain Research, Tubingen, Germany
    Mov Disord 21:1763-5. 2006
    ..7% and a negative predictive value of 82.9% in the diagnosis of PD solely by interpreting the results of TCS, indicating that TCS is a valuable additional tool in the diagnosis of PD...
  54. ncbi request reprint Treatment of dementia in parkinsonian syndromes with cholinesterase inhibitors
    Inga Liepelt
    Hertie Institute for Clinical Brain Research, University of Tubingen, Tubingen, Germany
    Dement Geriatr Cogn Disord 23:351-67. 2007
    ..The effect of treatment with cholinesterase inhibitors in progressive supranuclear palsy and corticobasal degeneration warrants carefully designed studies including a sufficient number of patients and symptom-adopted dementia scales...
  55. doi request reprint Reverse sensory geste in cervical dystonia
    Friedrich Asmus
    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...
  56. doi request reprint Homo- and heterodimerization of ROCO kinases: LRRK2 kinase inhibition by the LRRK2 ROCO fragment
    Christian L Klein
    Department of Neurodegeneration, Hertie Institute for Clinical Brain Research, University Clinics Tübingen, Germany
    J Neurochem 111:703-15. 2009
    ..Importantly, our finding of ROCO(LRRK2) fragment-mediated LRRK2 kinase inhibition offers a novel lead for drug design and thus might have important implications for new therapeutic avenues in PD...
  57. doi request reprint Molecular pathogenesis of Parkinson disease: insights from genetic studies
    Thomas Gasser
    Department of Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research, University of Tubingen, Hoppe Seyler Str 3, 72076 Tubingen, Germany
    Expert Rev Mol Med 11:e22. 2009
    ..These findings will allow the search for new treatment strategies that focus on the underlying molecular pathophysiology, rather than simply on ameliorating symptoms...
  58. doi request reprint 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...
  59. ncbi request reprint New family with paroxysmal exercise-induced dystonia and epilepsy
    Christoph Kamm
    Department of Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research, University of Tubingen, Tubingen, Germany
    Mov Disord 22:873-7. 2007
    ....
  60. ncbi request reprint Radicular and nonradicular back pain in Parkinson's disease: a controlled study
    Doris Broetz
    Center for Therapy, Hertie Institute for Clinical Brain Research, School of Medicine, University of Tubingen, Tubingen, Germany
    Mov Disord 22:853-6. 2007
    ..This suggests that back pain in PD patients is often neglected and insufficiently treated. Our results argue for the routine evaluation of back pain in every patient suffering from PD...
  61. ncbi request reprint Higher frequency of regulatory T cells in the elderly and increased suppressive activity in neurodegeneration
    Daniela Rosenkranz
    Department of Cellular Neurology, Tubingen, Germany
    J Neuroimmunol 188:117-27. 2007
    ..The analysis of Treg from AD and PD patients as well as non-affected individuals, revealed that the frequency of Treg (CD4(+)Foxp3(+)) increases with age and is accompanied by intensified suppressive activity for Treg in patients...
  62. ncbi request reprint New aspects of genetic contributions to Parkinson's disease
    Anne Hofer
    Department of Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research, University of Tuebingen, 72076 Tuebingen, Germany
    J Mol Neurosci 24:417-24. 2004
    ..There is also accumulating evidence that genetic factors play a role in the common sporadic form of PD, however their precise nature remains unknown...
  63. pmc The PARK8 locus in autosomal dominant parkinsonism: confirmation of linkage and further delineation of the disease-containing interval
    Alexander Zimprich
    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...
  64. pmc Genetic basis of Parkinson's disease: inheritance, penetrance, and expression
    Claudia Schulte
    Department of Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research, University of Tubingen, and German Center for Neurodegenerative Diseases, Tubingen, Germany
    Appl Clin Genet 4:67-80. 2011
    ..The identification of genes involved in the development of Parkinson's disease will improve our understanding of the underlying molecular mechanisms, and will hopefully lead to new drug targets and treatment strategies...
  65. doi request reprint Genetic testing in neurological diseases
    Saskia Biskup
    Department of Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research, DZNE German Center for Neurodegenerative Diseases, Hoppe Seyler Str 3, 72076 Tubingen, Germany
    J Neurol 259:1249-54. 2012
    ....
  66. ncbi request reprint Mutations in LRRK2 cause autosomal-dominant parkinsonism with pleomorphic pathology
    Alexander Zimprich
    Department of Neurodegenerative Disease, Hertie Institute for Clinical Brain Research, University of Tubingen, 72076 Tubingen, Germany
    Neuron 44:601-7. 2004
    ..Hence, LRRK2 may be central to the pathogenesis of several major neurodegenerative disorders associated with parkinsonism...
  67. ncbi request reprint Alpha-synuclein and Parkinson's disease: implications from the screening of more than 1,900 patients
    Daniela Berg
    Institute for Medical Genetics, University of Tubingen, Germany
    Mov Disord 20:1191-4. 2005
    ..A53T mutation. These results demonstrate that mutations in the alpha-synuclein gene are rare and suggest that other factors contribute to alpha-synuclein aggregation in the majority of PD patients...
  68. ncbi request reprint PARK11 is not linked with Parkinson's disease in European families
    Jürgen Prestel
    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...
  69. ncbi request reprint Myoclonus-dystonia syndrome: epsilon-sarcoglycan mutations and phenotype
    Friedrich Asmus
    Neurologische Klinik Grosshadern, Ludwig Maximilians Universitat, Munich, Germany
    Ann Neurol 52:489-92. 2002
    ..Six novel and one previously known heterozygous SGCE mutations were identified. SGCE deficiency seems to be the common pathogenetic mechanism in myoclonus-dystonia syndrome...
  70. ncbi request reprint Epsilon-sarcoglycan is not involved in sporadic Gilles de la Tourette syndrome
    Friedrich Asmus
    Neurogenetics 6:55-6. 2005
  71. ncbi request reprint Mutations in the pantothenate kinase gene PANK2 are not associated with Parkinson disease
    Thomas Klopstock
    Department of Neurology, Klinikum Grosshadern, Ludwig Maximilians University, 81377 Munich, Germany
    Neurosci Lett 379:195-8. 2005
    ..Moreover, PANK2 polymorphisms were not associated with late-onset idiopathic PD in 339 patients. We conclude that PANK2 variants exert, if any, only a very small effect in the genetic risk of PD...
  72. ncbi request reprint A rare truncating mutation in ADH1C (G78Stop) shows significant association with Parkinson disease in a large international sample
    Silvia Buervenich
    Department of Neuroscience, Karolinska Institutet, Stockholm, Sweden
    Arch Neurol 62:74-8. 2005
    ..In a previous study, significant association of an ADH class IV allele with Parkinson disease (PD) was found in a Swedish sample...
  73. ncbi request reprint Lack of association between the interleukin-1 alpha (-889) polymorphism and early-onset Parkinson's disease
    Jens Carsten Moller
    Department of Neurology, Philipps University, Marburg, Germany
    Neurosci Lett 359:195-7. 2004
    ..We conclude that the C/T polymorphism in the IL-1alpha promoter region at -889 does not increase the risk to develop PD...
  74. ncbi request reprint An interleukin-6 promoter variant is not associated with an increased risk for Alzheimer's disease
    Candan Depboylu
    Department of Neurology, Rheinische Friedrich Wilhelms University Bonn, Bonn, Germany
    Dement Geriatr Cogn Disord 17:170-3. 2004
    ..No evidence of an earlier age at onset for carriers of the C allele was evaluated. We conclude that IL-6 (-174) polymorphism does not influence the risk of developing AD in our cohort...
  75. ncbi request reprint Inherited myoclonus-dystonia
    Friedrich Asmus
    Department of Neurodegenerative Disorders, Hertie Institute for Clinical Brain Research, University of Tubingen, Tubingen, Germany, USA
    Adv Neurol 94:113-9. 2004
  76. ncbi request reprint Point mutations in exon 1 of the NR4A2 gene are not a major cause of familial Parkinson's disease
    Alexander Zimprich
    Neurogenetics 4:219-20. 2003
  77. ncbi request reprint The epsilon-sarcoglycan gene (SGCE), mutated in myoclonus-dystonia syndrome, is maternally imprinted
    Monika Grabowski
    Institute of Human Genetics, GSF National Research Center, D 85764 München Neuherberg, Germany
    Eur J Hum Genet 11:138-44. 2003
    ..We investigated one affected female that inherited the mutated allele from her mother. Surprisingly, we found the paternal wild type allele expressed whereas the mutated maternal allele was not detectable in peripheral blood cDNA...
  78. ncbi request reprint Complex relationship between Parkin mutations and Parkinson disease
    Andrew West
    Familial Movement Disorders, Laboratories of Neurogenetics, Department of Neuroscience, Mayo Clinic, Jacksonville, Florida 32224, USA
    Am J Med Genet 114:584-91. 2002
    ....
  79. ncbi request reprint The human sideroflexin 5 (SFXN5) gene: sequence, expression analysis and exclusion as a candidate for PARK3
    Paul J Lockhart
    Mayo Clinic Jacksonville, Birdsall Building, 4500 San Pablo Road, Jacksonville, FL 32224, USA
    Gene 285:229-37. 2002
    ..Sequence analysis of 2p13 linked individuals affected with PD did not reveal any potentially pathogenic mutations within SFXN5, suggesting SFXN5 does not correspond to PARK3...
  80. ncbi request reprint How much phenotypic variation can be attributed to parkin genotype?
    Ebba Lohmann
    INSERM U289, Hopital de la Salpetriere, Paris, France
    Ann Neurol 54:176-85. 2003
    ..Patients with a single heterozygous mutation had significantly later and more asymmetrical onset and more frequent levodopa-induced fluctuations and dystonia than patients with two mutations...
  81. ncbi request reprint PARK6-linked parkinsonism occurs in several European families
    Enza Maria Valente
    Institute for Medical Genetics C S S Mendel, Rome, Italy
    Ann Neurol 51:14-8. 2002
    ..PARK6 appears to be an important locus for early-onset parkinsonism in European Parkin-negative patients...
  82. ncbi request reprint Apolipoprotein E4 is probably responsible for the chromosome 19 linkage peak for Parkinson's disease
    Maria Martinez
    INSERM EMI00 06, Evry, France
    Am J Med Genet B Neuropsychiatr Genet 136:72-4. 2005
    ..This suggests that apolipoprotein E4 is responsible for the linkage peak in this region and that it is a modest risk factor for Parkinson's disease...
  83. ncbi request reprint Loss of function mutations in the gene encoding Omi/HtrA2 in Parkinson's disease
    Karsten M Strauss
    Center of Neurology and Hertie Institute for Clinical Brain Research, Leicester, UK
    Hum Mol Genet 14:2099-111. 2005
    ..On the basis of functional genomics, our results provide a novel link between mitochondrial dysfunction and neurodegeneration in PD...
  84. doi request reprint Parkinson's syndrome in a young patient with Klinefelter's syndrome--a case report
    Jan Philipp Bach
    Mov Disord 23:771-2. 2008
  85. ncbi request reprint A novel locus for dementia with Lewy bodies: a clinically and genetically heterogeneous disorder
    Veerle Bogaerts
    Neurodegenerative Brain Diseases Group, Department of Molecular Genetics, VIB, Institute Born Bunge, Antwerpen, Belgium
    Brain 130:2277-91. 2007
    ..Once identified this will be the first novel causal gene for DLB and can be expected to open new avenues for biological studies of the disease process...
  86. ncbi request reprint A novel LRRK2 mutation in an Austrian cohort of patients with Parkinson's disease
    Dietrich Haubenberger
    Department of Neurology, Medical University of Vienna, and SMZ Ost Donauspital, Vienna, Austria
    Mov Disord 22:1640-3. 2007
    ..While the most common mutation G2019S and the risk variant G2385R were not found in our samples, we detected a novel missense mutation (S973N) in a patient with familial, late-onset and dopa-responsive PD...
  87. doi request reprint Parkinson patient fibroblasts show increased alpha-synuclein expression
    Hans Hermann Hoepken
    Department of Neurology, University Medical School, Frankfurt am Main, Germany
    Exp Neurol 212:307-13. 2008
    ..We propose that the expression changes described might potentially serve as biomarkers that allow objective PD patient diagnosis in an accessible, peripheral tissue...
  88. pmc Phenotype, genotype, and worldwide genetic penetrance of LRRK2-associated Parkinson's disease: a case-control study
    Daniel G Healy
    Department of Clinical Neurosciences, Institute of Neurology, University College London, London, UK
    Lancet Neurol 7:583-90. 2008
    ..LRRK2-associated PD be distinguished from idiopathic PD; which mutations in LRRK2 are pathogenic; and what is the age-specific cumulative risk of PD for individuals who inherit or are at risk of inheriting a deleterious mutation in LRRK2?..
  89. doi request reprint Genomic investigation of alpha-synuclein multiplication and parkinsonism
    Owen A Ross
    Division of Neurogenetics, Department of Neuroscience, College of Medicine, Mayo Clinic, Jacksonville, FL 32224, USA
    Ann Neurol 63:743-50. 2008
    ..Herein we characterize five families with parkinsonism that have been identified to harbor multiplication of the chromosomal 4q21 locus containing the alpha-synuclein gene (SNCA)...
  90. ncbi request reprint Independent occurrence of I2020T mutation in the kinase domain of the leucine rich repeat kinase 2 gene in Japanese and German Parkinson's disease families
    Etsuro Ohta
    Division of Clinical Immunology, Graduate School of Medical Sciences, Kitasato University, 1 15 1 Kitasato, Sagamihara, Kanagawa 228 8555, Japan
    Neurosci Lett 417:21-3. 2007
    ..This indicated that the I2020T mutation, an essential pathogenic mutation of PARK8-related PD, had occurred independently in the two PD families...
  91. ncbi request reprint Data protection in biomaterial banks for Parkinson's disease research: the model of GEPARD (Gene Bank Parkinson's Disease Germany)
    Karla Eggert
    Department of Neurology, Philipps University of Marburg, Marburg, Germany
    Mov Disord 22:611-8. 2007
    ....
  92. ncbi request reprint Loss-of-function of human PINK1 results in mitochondrial pathology and can be rescued by parkin
    Nicole Exner
    Center for Integrated Protein Science Munich and Adolf Butenandt Institute, Department of Biochemistry, Laboratory for Alzheimer s and Parkinson s Disease Research, Ludwig Maximilians University, 80336 Munich, Germany
    J Neurosci 27:12413-8. 2007
    ..Our results may therefore suggest that PINK1 deficiency in humans results in mitochondrial abnormalities associated with cellular stress, a pathological phenotype, which can be ameliorated by enhanced expression of parkin...
  93. ncbi request reprint Common variants of LRRK2 are not associated with sporadic Parkinson's disease
    Saskia Biskup
    Institute of Human Genetics, GSF National Research Center for Environment and Health, Neuherberg, Germany
    Ann Neurol 58:905-8. 2005
    ..No association could be demonstrated. We have therefore no evidence for the existence of a common variant in LRRK2 that has a strong influence on Parkinson's disease risk...
  94. ncbi request reprint PET in LRRK2 mutations: comparison to sporadic Parkinson's disease and evidence for presymptomatic compensation
    John R Adams
    Pacific Parkinson s Research Centre, TRIUMF, Vancouver, BC, Canada
    Brain 128:2777-85. 2005
    ..Furthermore, we suggest that compensatory changes including downregulation of the DAT and upregulation of decarboxylase activity may delay the onset of parkinsonian symptoms...
  95. ncbi request reprint Comprehensive analysis of the LRRK2 gene in sixty families with Parkinson's disease
    Alessio Di Fonzo
    Department of Clinical Genetics, Erasmus MC Rotterdam, Rotterdam, The Netherlands
    Eur J Hum Genet 14:322-31. 2006
    ..These data have implications both for understanding the molecular mechanisms of PD, and for directing the genetic screening in clinical practice...
  96. ncbi request reprint Amplification pattern of 12q13-q15 genes (MDM2, CDK4, GLI) in urinary bladder cancer
    Ronald Simon
    Institute for Pathology and Urologic Clinics, University of Basel, Schoenbeinstrasse 40, CH 4003 Basel, Switzerland
    Oncogene 21:2476-83. 2002
    ..04) and from low to high grade (P<0.005). These data are consistent with a high level of genetic instability in invasively growing and high-grade bladder tumors...
  97. ncbi request reprint VHL mutations and their correlation with tumour cell proliferation, microvessel density, and patient prognosis in clear cell renal cell carcinoma
    Peter Schraml
    Institute of Pathology, University of Basel, Schonbeinstrasse 40, CH 4031 Basel, Switzerland
    J Pathol 196:186-93. 2002
    ....
  98. ncbi request reprint The variable phenotype of FXTAS: a common cause of "idiopathic" disorders
    Christoph Kamm
    Neurology 65:190-1. 2005
  99. pmc Meta analysis of whole-genome linkage scans with data uncertainty: an application to Parkinson's disease
    Albert Rosenberger
    Georg August University Gottingen, Medical School, Department of Genetic Epidemiology, Germany
    BMC Genet 8:44. 2007
    ..An application to Parkinson's disease is given. Because we had to use secondary data a meta analysis based on original summary values would be desirable...
  100. ncbi request reprint Multiple regions of alpha-synuclein are associated with Parkinson's disease
    Jakob C Mueller
    Institute for Human Genetics, GSF National Research Centre for Environment and Health, Neuherberg, Germany
    Ann Neurol 57:535-41. 2005
    ..These findings indicate locus heterogeneity for the pathogenesis of Parkinson's disease in different genetic or physiological environments, related to sex and age...
  101. ncbi request reprint Intrafamilial variability in fragile X-associated tremor/ataxia syndrome
    Nils Peters
    Department of Neurology, Klinikum Grosshadern, Ludwig Maximilians University Munich, Munich, Germany
    Mov Disord 21:98-102. 2006
    ..Also, their family history suggests further evidence of possible manifestation of FXTAS in women...