Thomas Gasser

Summary

Country: Germany

Publications

  1. ncbi 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
  2. ncbi 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
  3. ncbi 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
  4. ncbi 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
  5. ncbi 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
  6. ncbi 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
  7. ncbi "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
  8. ncbi Alpha2-macroglobulin, lipoprotein receptor-related protein and lipoprotein receptor-associated protein and the genetic risk for developing Alzheimer's disease
    Candan Depboylu
    Department of Neurology, Philipps University Marburg, Rudolph Bultmann Str 8, 35039 Marburg, Germany
    Neurosci Lett 400:187-90. 2006
  9. ncbi 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
  10. ncbi 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

Detail Information

Publications107 found, 100 shown here

  1. ncbi 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...
  2. ncbi 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...
  3. ncbi 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...
  4. ncbi 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...
  5. ncbi 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...
  6. ncbi 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...
  7. ncbi "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...
  8. ncbi Alpha2-macroglobulin, lipoprotein receptor-related protein and lipoprotein receptor-associated protein and the genetic risk for developing Alzheimer's disease
    Candan Depboylu
    Department of Neurology, Philipps University Marburg, Rudolph Bultmann Str 8, 35039 Marburg, Germany
    Neurosci Lett 400:187-90. 2006
    ..Although LRP as well as RAP seem to play an essential role in the metabolism of alpha2M and APOE, there is no increase in the genetic risk for AD in patients carrying the investigated polymorphisms...
  9. ncbi 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...
  10. ncbi 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
    ....
  11. ncbi 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...
  12. ncbi 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
    ....
  13. ncbi 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...
  14. ncbi Excellent response to apomorphine in Parkinsonism with optic atrophy unresponsive to oral antiparkinsonian medication
    Angela Deutschlander
    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...
  15. ncbi 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...
  16. ncbi 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...
  17. ncbi 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...
  18. ncbi 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
    ....
  19. ncbi 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...
  20. ncbi 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...
  21. ncbi 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)...
  22. ncbi Enlarged substantia nigra hyperechogenicity and risk for Parkinson disease: a 37-month 3-center study of 1847 older persons
    Daniela Berg
    Department of Neurodegeneration, Hertie Institute for Clinical Brain Research and German Center of Neurodegenerative Diseases, Hoppe Seyler Strasse 3, 72076 Tubingen, Germany
    Arch Neurol 68:932-7. 2011
    ..To evaluate whether enlarged substantia nigra hyperechogenicity (SN+) is associated with an increased risk for Parkinson disease (PD) in a healthy elderly population...
  23. ncbi 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...
  24. ncbi 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...
  25. ncbi 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...
  26. ncbi Neprilysin activity in cerebrospinal fluid is associated with dementia and amyloid-?42 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 A? pathway...
  27. ncbi 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...
  28. ncbi 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...
  29. ncbi 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...
  30. ncbi Parkinson's disease and dementia: a longitudinal study (DEMPARK)
    Monika Balzer-Geldsetzer
    Department of Neurology, Philipps University Marburg, Marburg, Germany
    Neuroepidemiology 37:168-76. 2011
    ..Parkinson's disease (PD) is a progressive neurodegenerative motor disorder. However, non-motor complications frequently alter the course of the disease. A particularly disabling non-motor symptom is dementia...
  31. ncbi 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...
  32. ncbi 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...
  33. ncbi 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...
  34. ncbi 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...
  35. ncbi 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...
  36. ncbi 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...
  37. ncbi 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...
  38. ncbi 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...
  39. ncbi 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...
  40. ncbi [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...
  41. ncbi LINGO1 is not associated with Parkinson's disease in German patients
    Stephan Klebe
    Department of Neurology, University Hospital Schleswig Holstein, Campus Kiel, Arnold Heller Strasse 3, Kiel, Germany
    Am J Med Genet B Neuropsychiatr Genet 153:1173-8. 2010
    ..SNPs in the LINGO1 gene associated with ET could not be shown to be associated with PD in our study population, despite a postulated overlap between both diseases...
  42. ncbi 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...
  43. ncbi 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."..
  44. ncbi 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...
  45. ncbi 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...
  46. ncbi 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...
  47. ncbi 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...
  48. ncbi 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...
  49. ncbi Proteasomal inhibition reduces parkin mRNA in PC12 and SH-SY5Y cells
    Andreas Koch
    Department of Neurology, Klinikum Grosshadern, Ludwig Maximilians University, Marchioninistr 15, 81377 Munich, Germany
    Parkinsonism Relat Disord 15:220-5. 2009
    ....
  50. ncbi 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...
  51. ncbi 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...
  52. ncbi 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
    ....
  53. ncbi 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
    ....
  54. ncbi ATP13A2 variants in early-onset Parkinson's disease patients and controls
    Ana Djarmati
    Department of Neurology, University of Lubeck, Lubeck, Germany
    Mov Disord 24:2104-11. 2009
    ..Although heterozygous variants are present in a considerable number of patients, they are-based on this relatively small sample-not significantly more frequent in patients compared to controls...
  55. ncbi 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...
  56. ncbi Absence of an orphan mitochondrial protein, c19orf12, causes a distinct clinical subtype of neurodegeneration with brain iron accumulation
    Monika B Hartig
    Institute of Human Genetics, Technische Universitat Munchen, Munich, Germany
    Am J Hum Genet 89:543-50. 2011
    ..The mitochondrial localization together with the immunohistopathological findings suggests a pathomechanistic overlap with common forms of neurodegenerative disorders...
  57. ncbi 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...
  58. ncbi 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...
  59. ncbi 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...
  60. ncbi 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...
  61. ncbi 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...
  62. ncbi 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
    ....
  63. ncbi Minocycline 1-year therapy in multiple-system-atrophy: effect on clinical symptoms and [(11)C] (R)-PK11195 PET (MEMSA-trial)
    Richard Dodel
    Department of Neurology, Philipps University of Marburg, 35039 Marburg, Germany
    Mov Disord 25:97-107. 2010
    ..This prospective, 48 week, randomized, double-blind, multinational study failed to show a clinical effect of minocycline on symptom severity as assessed by clinical motor function...
  64. ncbi 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...
  65. ncbi 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...
  66. ncbi 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)...
  67. ncbi 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...
  68. ncbi 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...
  69. ncbi 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...
  70. ncbi Complex segregation analysis of restless legs syndrome provides evidence for an autosomal dominant mode of inheritance in early age at onset families
    Juliane Winkelmann
    Section of Neurology, Max Planck Institute of Psychiatry, Munich, Germany
    Ann Neurol 52:297-302. 2002
    ..The segregation pattern found in our families argues for an autosomal allele acting dominantly in RLS families with an early age at onset of symptoms and suggests that RLS is a causative heterogeneous disease...
  71. ncbi Sporadic rapid-onset dystonia-parkinsonism syndrome: failure of bilateral pallidal stimulation
    Angela Deutschlander
    Department of Neurology, Klinikum Grosshadern, Ludwig Maximilians University, Munich, Germany
    Mov Disord 20:254-7. 2005
    ..The patient fulfilled all diagnostic criteria of rapid-onset dystonia-parkinsonism, except for autosomal-dominant inheritance. Bilateral deep brain stimulation of the globus pallidus failed to alleviate her symptoms...
  72. ncbi 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...
  73. ncbi Overview of the genetics of parkinsonism
    Thomas Gasser
    Department of Neurology, Klinikum Grosshadern, , , Germany
    Adv Neurol 91:143-52. 2003
  74. ncbi Lack of association of interleukin-10 promoter region polymorphisms with Alzheimer's disease
    Candan Depboylu
    Department of Neurology, Friedrich Wilhelms University, Sigmund Freud Strasse 25, 53105, Bonn, Germany
    Neurosci Lett 342:132-4. 2003
    ..We conclude that polymorphisms in the IL-10 promoter region do not increase the risk of developing AD...
  75. ncbi Creatine supplementation lowers brain glutamate levels in Huntington's disease
    Andreas Bender
    Department of Neurology, Klinikum Grosshadern, University of Munich, Marchioninistrasse 15, 81377 Munich, Germany
    J Neurol 252:36-41. 2005
    ..Since Glu-mediated excitotoxicity is presumably pivotal in HD pathogenesis, these results indicate a therapeutic potential of Cr in HD. Thus, longterm clinical trials are warranted...
  76. ncbi 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...
  77. ncbi 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...
  78. ncbi 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 Inherited myoclonus-dystonia
    Friedrich Asmus
    Department of Neurodegenerative Disorders, Hertie-Institute for Clinical Brain Research, , , Germany, USA
    Adv Neurol 94:113-9. 2004
  80. ncbi 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...
  81. ncbi 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...
  82. ncbi 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...
  83. ncbi 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...
  84. ncbi 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...
  85. ncbi 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...
  86. ncbi 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...
  87. ncbi Epsilon-sarcoglycan is not involved in sporadic Gilles de la Tourette syndrome
    Friedrich Asmus
    Neurogenetics 6:55-6. 2005
  88. ncbi Parkinson's syndrome in a young patient with Klinefelter's syndrome--a case report
    Jan-Philipp Bach
    Mov Disord 23:771-2. 2008
  89. ncbi 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...
  90. ncbi 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?..
  91. ncbi 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)...
  92. ncbi 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...
  93. ncbi 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...
  94. ncbi 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...
  95. ncbi 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
  96. ncbi 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...
  97. ncbi TRIO amplification and abundant mRNA expression is associated with invasive tumor growth and rapid tumor cell proliferation in urinary bladder cancer
    Min Zheng
    Institute of Pathology, University of Basel, Schoenbeinstrasse 40, CH 4031 Basel, Switzerland
    Am J Pathol 165:63-9. 2004
    ..It is concluded that TRIO up-regulation through amplification has a potential role in bladder cancer progression...
  98. ncbi The variable phenotype of FXTAS: a common cause of "idiopathic" disorders
    Christoph Kamm
    Neurology 65:190-1. 2005
  99. ncbi 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
    ....