Christine Klein

Summary

Country: Germany

Publications

  1. ncbi request reprint Early-onset parkinsonism associated with PINK1 mutations: frequency, genotypes, and phenotypes
    Christine Klein
    Neurology 66:1129-30; author reply 1129-30. 2006
  2. pmc Mutations in PINK1 and Parkin impair ubiquitination of Mitofusins in human fibroblasts
    Aleksandar Rakovic
    Section of Clinical and Molecular Neurogenetics, Department of Neurology, University of Lubeck, Lubeck, Germany
    PLoS ONE 6:e16746. 2011
  3. pmc Mutant Parkin impairs mitochondrial function and morphology in human fibroblasts
    Anne Grünewald
    Section of Clinical and Molecular Neurogenetics, Department of Neurology, University of Lubeck, Lubeck, Germany
    PLoS ONE 5:e12962. 2010
  4. pmc PINK1-Interacting Proteins: Proteomic Analysis of Overexpressed PINK1
    Aleksandar Rakovic
    Section of Clinical and Molecular Neurogenetics, Department of Neurology, University of Lubeck, Maria Goeppert Straße 1, 23562 Lübeck, Germany
    Parkinsons Dis 2011:153979. 2011
  5. ncbi request reprint Genetics in dystonia
    Christine Klein
    Institute of Neurogenetics, University of Lubeck, Lubeck, Germany Electronic address
    Parkinsonism Relat Disord 20:S137-42. 2014
  6. doi request reprint Progressive dystonia
    Christine Klein
    Institute of Neurogenetics, University of Lubeck, Lubeck, Germany Electronic address
    Handb Clin Neurol 113:1889-97. 2013
  7. pmc Genetics of Parkinson's disease
    Christine Klein
    Section of Clinical and Molecular Neurogenetics at the Department of Neurology, University of Lubeck, Lubeck, Germany
    Cold Spring Harb Perspect Med 2:a008888. 2012
  8. doi request reprint A study of subtle motor signs in early Parkinson's disease
    Susanne A Schneider
    Section of Clinical and Molecular Neurogenetics at the Department of Neurology, University of Lubeck, Lubeck, Germany
    Mov Disord 27:1563-6. 2012
  9. pmc The Gly2019Ser mutation in LRRK2 is not fully penetrant in familial Parkinson's disease: the GenePD study
    Jeanne C Latourelle
    Department of Neurology, Boston University School of Medicine, Boston University, Boston, MA, USA
    BMC Med 6:32. 2008
  10. ncbi request reprint Impact of recent genetic findings in Parkinson's disease
    Christine Klein
    Departments of Neurology and Human Genetics, Lübeck University, Lubeck, Germany
    Curr Opin Neurol 20:453-64. 2007

Detail Information

Publications123 found, 100 shown here

  1. ncbi request reprint Early-onset parkinsonism associated with PINK1 mutations: frequency, genotypes, and phenotypes
    Christine Klein
    Neurology 66:1129-30; author reply 1129-30. 2006
  2. pmc Mutations in PINK1 and Parkin impair ubiquitination of Mitofusins in human fibroblasts
    Aleksandar Rakovic
    Section of Clinical and Molecular Neurogenetics, Department of Neurology, University of Lubeck, Lubeck, Germany
    PLoS ONE 6:e16746. 2011
    ..In the presence of UPS inhibitors, ubiquitinated Mitofusin is deubiquitinated by the UPS but not degraded, suggesting that the UPS is involved in Mitofusin degradation...
  3. pmc Mutant Parkin impairs mitochondrial function and morphology in human fibroblasts
    Anne Grünewald
    Section of Clinical and Molecular Neurogenetics, Department of Neurology, University of Lubeck, Lubeck, Germany
    PLoS ONE 5:e12962. 2010
    ..The mitochondrially localized E3 ubiquitin-protein ligase Parkin has been reported to be involved in respiratory chain function and mitochondrial dynamics. More recent publications also described a link between Parkin and mitophagy...
  4. pmc PINK1-Interacting Proteins: Proteomic Analysis of Overexpressed PINK1
    Aleksandar Rakovic
    Section of Clinical and Molecular Neurogenetics, Department of Neurology, University of Lubeck, Maria Goeppert Straße 1, 23562 Lübeck, Germany
    Parkinsons Dis 2011:153979. 2011
    ..Our study provides a list of putative PINK1 binding partners, confirming previously described interactions, but also introducing novel mitochondrial proteins as potential components of the PINK1/Parkin mitophagy pathway...
  5. ncbi request reprint Genetics in dystonia
    Christine Klein
    Institute of Neurogenetics, University of Lubeck, Lubeck, Germany Electronic address
    Parkinsonism Relat Disord 20:S137-42. 2014
    ..Persistent and paroxysmal forms are distinguished according to their temporal pattern. The paroxysmal forms of dystonia/dyskinesias present with a mixed pattern of hyperkinetic movement disorders (PRRT2/DYT10; MR-1/DYT8; SLC2A1/DYT18). ..
  6. doi request reprint Progressive dystonia
    Christine Klein
    Institute of Neurogenetics, University of Lubeck, Lubeck, Germany Electronic address
    Handb Clin Neurol 113:1889-97. 2013
    ..Dystonia can be part of the clinical syndrome in many heredodegenerative disorders, or may be drug-induced or psychogenic...
  7. pmc Genetics of Parkinson's disease
    Christine Klein
    Section of Clinical and Molecular Neurogenetics at the Department of Neurology, University of Lubeck, Lubeck, Germany
    Cold Spring Harb Perspect Med 2:a008888. 2012
    ..In brief, we will review familial forms of PD, basic genetic principles of inheritance (and their exceptions in PD), followed by current methods for the identification of PD genes and risk factors, and implications for genetic testing...
  8. doi request reprint A study of subtle motor signs in early Parkinson's disease
    Susanne A Schneider
    Section of Clinical and Molecular Neurogenetics at the Department of Neurology, University of Lubeck, Lubeck, Germany
    Mov Disord 27:1563-6. 2012
    ..The UPDRS is the most widely used rating scale for Parkinson's disease (PD). However, subtle features of early disease stages may be missed...
  9. pmc The Gly2019Ser mutation in LRRK2 is not fully penetrant in familial Parkinson's disease: the GenePD study
    Jeanne C Latourelle
    Department of Neurology, Boston University School of Medicine, Boston University, Boston, MA, USA
    BMC Med 6:32. 2008
    ..Studies of the penetrance of LRRK2 mutations have produced a wide range of estimates, possibly due to differences in study design and recruitment, including in particular differences between samples of familial PD versus sporadic PD...
  10. ncbi request reprint Impact of recent genetic findings in Parkinson's disease
    Christine Klein
    Departments of Neurology and Human Genetics, Lübeck University, Lubeck, Germany
    Curr Opin Neurol 20:453-64. 2007
    ....
  11. ncbi request reprint [The presymptomatic stage of neurodegenerative disorders]
    C Klein
    Sektion für Klinische und Molekulare Neurogenetik, Klinik fur Neurologie, Universitat zu Lubeck, Lubeck, Deutschland
    Nervenarzt 82:994-1001. 2011
    ..Furthermore, studies of presymptomatic disease stages are important because they may help to unravel compensatory mechanisms responsible for apparently normal brain function despite ongoing neurodegeneration...
  12. doi request reprint The Wilson films--Huntington's chorea
    Christine Klein
    Section of Clinical and Molecular Neurogenetics, Department of Neurology, University of Luebeck, Luebeck, Germany
    Mov Disord 26:2464-6. 2011
    ..Regarding treatment of HD, however, we are still awaiting the successful translation of research results into the development of effective cause-directed, neuropreventive and neurorestaurative therapies...
  13. ncbi request reprint PINK1, Parkin, and DJ-1 mutations in Italian patients with early-onset parkinsonism
    Christine Klein
    Department of Neurology, University of Lubeck, Lubeck, Germany
    Eur J Hum Genet 13:1086-93. 2005
    ..No mutations were found in the DJ-1 gene. The number of mutation carriers in both the Parkin and the PINK1 gene in our cohort is low but comparable, suggesting that PINK1 has to be considered in EOP...
  14. ncbi request reprint The genetics of Parkinson disease: Implications for neurological care
    Christine Klein
    Department of Neurology, Lübeck University, Lubeck, Germany
    Nat Clin Pract Neurol 2:136-46. 2006
    ..In the absence of consensus guidelines for DNA testing in PD and of any neuroprotective treatment for this nonfatal disorder, we remind ourselves of the omnipresent mandate, 'Primum nil nocere!' ('First, do no harm!')...
  15. ncbi request reprint Deciphering the role of heterozygous mutations in genes associated with parkinsonism
    Christine Klein
    Department of Neurology, University of Lubeck, Lubeck, Germany
    Lancet Neurol 6:652-62. 2007
    ..We discuss the roles of heterozygous LRRK2 mutations and heterozygous parkin and PINK1 mutations in the development of parkinsonism, and propose an integrated aetiological model for this complex disease...
  16. ncbi request reprint Progression of subtle motor signs in PINK1 mutation carriers with mild dopaminergic deficit
    C Eggers
    Department of Neurology, University of Lubeck, Ratzeburger Allee 160, 23538 Lubeck, Germany
    Neurology 74:1798-805. 2010
    ..While homozygous mutations in the PINK1 gene cause recessively inherited early-onset Parkinson disease (PD), heterozygous mutations have been suggested as a susceptibility factor...
  17. ncbi request reprint Hereditary parkinsonism: Parkinson disease look-alikes--an algorithm for clinicians to "PARK" genes and beyond
    Christine Klein
    Department of Neurology, University of Lubeck, Lubeck, Germany
    Mov Disord 24:2042-58. 2009
    ..Group III comprises mutations in the FMR1, MAPT, GRN, ATP7B, PANK2, FBXO7, CHAC, FTL1, Huntingtin, JPH3 genes, and a number of even rarer, miscellaneous conditions...
  18. ncbi request reprint Clinical and genetic features of myoclonus-dystonia in 3 cases: a video presentation
    Norman Kock
    Department of Neurology, University of Schleswig Holstein, Lubeck, Germany
    Mov Disord 19:231-4. 2004
    ..We describe 3 children with a similar clinical picture of autosomal dominant M-D and an SGCE mutation in only one of them, suggesting that M-D is genetically heterogeneous...
  19. ncbi request reprint Effect of endogenous mutant and wild-type PINK1 on Parkin in fibroblasts from Parkinson disease patients
    Aleksandar Rakovic
    Section of Clinical and Molecular Neurogenetics, Department of Neurology, University of Lubeck, 23562 Lübeck, Germany
    Hum Mol Genet 19:3124-37. 2010
    ....
  20. ncbi request reprint Recurrent LRRK2 (Park8) mutations in early-onset Parkinson's disease
    Katja Hedrich
    Department of Neurology, University of Lubeck, Lubeck, Germany
    Mov Disord 21:1506-10. 2006
    ..6055G>A) in three early-onset patients. Screening of an additional 220 early-onset PD patients for these mutations revealed another mutation carrier. In conclusion, LRRK2 mutations need to be considered also in early-onset PD...
  21. ncbi request reprint Structural imaging in the presymptomatic stage of genetically determined parkinsonism
    Kathrin Reetz
    Department of Neurology, RWTH Aachen University, Aachen, Germany
    Neurobiol Dis 39:402-8. 2010
    ..Asymptomatic PINK1 and LRRK2 MC also revealed smaller GMV in the hippocampal region, which might play a role in the observed psychiatric disorders...
  22. ncbi request reprint Heterozygous PINK1 mutations: a susceptibility factor for Parkinson disease?
    Ana Djarmati
    Department of Neurology, University of Lubeck, Lubeck, Germany
    Mov Disord 21:1526-30. 2006
    ..Two of these patients shared mutations with their affected relatives, further suggesting that heterozygous PINK1 mutations may act as a susceptibility factor for EOPD...
  23. doi request reprint Mortalin mutations are not a frequent cause of early-onset Parkinson disease
    Karen Freimann
    Institute of Neurogenetics, University of Lubeck, Ratzeburger Allee 160, 23538 Lubeck, Germany
    Neurobiol Aging 34:2694.e19-20. 2013
    ..These findings suggest that variants in mortalin (1) are not a major cause of EOPD; (2) occur in patients and controls; and (3) do not lead to functional impairment of mitochondria. ..
  24. ncbi request reprint Co-occurrence of restless legs syndrome and Parkin mutations in two families
    Susanna Adel
    Department of Neurology, University of Lubeck, Lubeck, Germany
    Mov Disord 21:258-63. 2006
    ..The clinical phenotype did not differ between RLS patients with and without a Parkin mutation. Inheritance of RLS was consistent with autosomal dominant transmission, and linkage analysis excluded all three known loci for RLS...
  25. doi request reprint MDR1 variants and risk of Parkinson disease. Association with pesticide exposure?
    Katja Zschiedrich
    Dept of Neurology, University of Lubeck, Ratzeburger Allee 160, 23538 Lubeck, Germany
    J Neurol 256:115-20. 2009
    ..74; confidence interval=[1.009; 22.306]); p=0.047), suggesting that common MDR1 variants might influence the risk to develop PD in conjunction with exposure to pesticides...
  26. ncbi request reprint 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...
  27. ncbi request reprint Clinical spectrum of homozygous and heterozygous PINK1 mutations in a large German family with Parkinson disease: role of a single hit?
    Katja Hedrich
    Department of Neurology, University of Lubeck, Germany
    Arch Neurol 63:833-8. 2006
    ..Although homozygous mutations in the PTEN-induced putative kinase 1 (PINK1) gene have been unequivocally associated with early-onset Parkinson disease (PD), the role of single heterozygous PINK1 mutations is less clear...
  28. pmc Evidence that paternal expression of the epsilon-sarcoglycan gene accounts for reduced penetrance in myoclonus-dystonia
    Birgitt Müller
    Department of Neurology, University of Lubeck, Germany
    Am J Hum Genet 71:1303-11. 2002
    ..Loss of imprinting in the patient with M-D who had biallelic expression of the SGCE gene was associated with partial loss of methylation at several CpG dinucleotides...
  29. pmc Phosphatase and tensin homolog (PTEN)-induced putative kinase 1 (PINK1)-dependent ubiquitination of endogenous Parkin attenuates mitophagy: study in human primary fibroblasts and induced pluripotent stem cell-derived neurons
    Aleksandar Rakovic
    Section of Clinical and Molecular Neurogenetics at the Department of Neurology, University of Lubeck, 23562 Lübeck, Germany
    J Biol Chem 288:2223-37. 2013
    ..Taken together, our data demonstrate that mitophagy differs between human non-neuronal and neuronal cells and between "endogenous" and "Parkin-overexpressing" cellular models...
  30. pmc Identification and functional analysis of novel THAP1 mutations
    Katja Lohmann
    Section of Clinical and Molecular Neurogenetics, Department of Neurology, University of Lubeck, Lubeck, Germany
    Eur J Hum Genet 20:171-5. 2012
    ..Speech was affected in four mutation carriers. In conclusion, THAP1 mutations are rare in unselected dystonia patients and functional analysis is necessary to distinguish between benign variants and pathogenic mutations...
  31. ncbi request reprint Mutations in THAP1 (DYT6) and generalised dystonia with prominent spasmodic dysphonia: a genetic screening study
    Ana Djarmati
    Schilling Department of Clinical and Molecular Neurogenetics, University of Lubeck, Lubeck, Germany
    Lancet Neurol 8:447-52. 2009
    ..Recently, two mutations in THAP1, the gene that encodes THAP (thanatos-associated protein) domain-containing apoptosis-associated protein 1 (THAP1), have been identified as a cause of DYT6 dystonia...
  32. ncbi request reprint Frequency of the D620N mutation in VPS35 in Parkinson disease
    Kishore R Kumar
    Section of Clinical and Molecular Neurogenetics, University of Lubeck, Lubeck, Germany
    Arch Neurol 69:1360-4. 2012
    ..To evaluate the frequency and clinical spectrum of the recently identified p.D620N mutation in the VPS35 gene in Parkinson disease (PD) in an international sample...
  33. ncbi request reprint Frequency of heterozygous Parkin mutations in healthy subjects: need for careful prospective follow-up examination of mutation carriers
    Norbert Brüggemann
    Schilling Department of Clinical and Molecular Neurogenetics and Department of Neurology, University of Lubeck, Ratzeburger Allee 160, Schleswig Holstein, 23538 Lubeck, Germany
    Parkinsonism Relat Disord 15:425-9. 2009
    ..A detailed clinical prospective and follow-up examination of mutation carriers is required for a better understanding of the role of heterozygous Parkin mutations...
  34. ncbi request reprint Detection of Parkin (PARK2) and DJ1 (PARK7) mutations in early-onset Parkinson disease: Parkin mutation frequency depends on ethnic origin of patients
    Ana Djarmati
    Department of Human Genetics, University of Lubeck, Lubeck, Germany
    Hum Mutat 23:525. 2004
    ..Although DJ1 mutations appear to be rare, we confirm their role in EOPD and demonstrate the importance of gene dosage studies...
  35. ncbi request reprint Recessively inherited parkinsonism: effect of ATP13A2 mutations on the clinical and neuroimaging phenotype
    Norbert Brüggemann
    Schilling Section of Clinical and Molecular Neurogenetics and Department of Neurology, University of Lubeck, Ratzeburger Allee 160, 23538 Lubeck, Germany
    Arch Neurol 67:1357-63. 2010
    ..To determine clinical features and to identify changes in brain structure and function in compound heterozygous and heterozygous ATP13A2 mutation carriers...
  36. ncbi request reprint Whispering dysphonia (DYT4 dystonia) is caused by a mutation in the TUBB4 gene
    Katja Lohmann
    Institute of Neurogenetics, University of Lubeck, Lubeck, Germany
    Ann Neurol 73:537-45. 2013
    ....
  37. ncbi request reprint Structural changes associated with progression of motor deficits in spinocerebellar ataxia 17
    Kathrin Reetz
    Department of Neurology, RWTH Aachen University, Germany
    Cerebellum 9:210-7. 2010
    ....
  38. doi request reprint Risk for antipsychotic-induced extrapyramidal symptoms: influence of family history and genetic susceptibility
    Meike Kasten
    Department of Psychiatry and Psychotherapy, University of Lubeck, Ratzeburger Allee 160, 23538, Lubeck, Germany
    Psychopharmacology (Berl) 214:729-36. 2011
    ..This study aims to further evaluate the impact of family history of primary movement disorders (FHpMD) and a candidate genetic variant on risk of antipsychotic-induced extrapyramidal symptoms (EPS)...
  39. doi request reprint Limbic and frontal cortical degeneration is associated with psychiatric symptoms in PINK1 mutation carriers
    Kathrin Reetz
    Department of Neurology, University of Luebeck, Luebeck, Germany
    Biol Psychiatry 64:241-7. 2008
    ..Mutations in the PINK1 gene can cause Parkinson's disease and are frequently associated with psychiatric symptoms that might even precede motor signs...
  40. ncbi request reprint Phenotypic spectrum of PINK1-associated parkinsonism in 15 mutation carriers from 1 family
    Anja Hiller
    Department of Neurology, University of Lubeck, Lubeck, Germany
    Mov Disord 22:145-7. 2007
    ..This finding suggests a role not only of homozygous but also of heterozygous PINK1 mutations in the development of parkinsonian signs and underlines the necessity to carefully investigate family members of affected mutation carriers...
  41. ncbi request reprint Nonmotor symptoms in genetic Parkinson disease
    Meike Kasten
    Department of Neurology, University of Lubeck, Lubeck, Germany
    Arch Neurol 67:670-6. 2010
    ..To review current knowledge on nonmotor symptoms (NMS), particularly psychiatric features, in genetic Parkinson disease (PD) and to provide original data for genetic and idiopathic PD...
  42. doi request reprint Cohort Profile: a population-based cohort to study non-motor symptoms in parkinsonism (EPIPARK)
    Meike Kasten
    Department of Psychiatry and Psychotherapy, University of Luebeck, Luebeck, Germany
    Int J Epidemiol 42:128-128k. 2013
    ..This study is ongoing and publications are in preparation, but you may contact the first author (meike.kasten@neuro.uni-luebeck.de) with suggestions for collaboration or data requests...
  43. ncbi request reprint Distribution, type, and origin of Parkin mutations: review and case studies
    Katja Hedrich
    Department of Neurology, University of Lubeck, Lubeck, Germany
    Mov Disord 19:1146-57. 2004
    ..This study provides evidence for both mutational hot spots and founder mutations as a source of recurrent mutations in Parkin, regardless of the mutation type...
  44. doi request reprint Prominent psychiatric comorbidity in the dominantly inherited movement disorder myoclonus-dystonia
    Anne Weissbach
    Section of Clinical and Molecular Neurogenetics at the Department of Neurology, University of Luebeck, Luebeck, Germany
    Parkinsonism Relat Disord 19:422-5. 2013
    ..Neurological and psychiatric disorders show clinical overlap suggesting a shared pathophysiological background. We evaluated myoclonus-dystonia, a monogenic movement disorder as a disease model for inherited psychopathology...
  45. ncbi request reprint Depression and quality of life in monogenic compared to idiopathic, early-onset Parkinson's disease
    Meike Kasten
    Department of Psychiatry and Psychotherapy, University of Lubeck, Lubeck, Germany
    Mov Disord 27:754-9. 2012
    ..The QoL and, possibly, overall prognosis of all PD patients can be improved by appropriate attention and treatment for depression, sleep impairments, and anxiety, even if the treatment of the motor problems cannot be further optimized...
  46. pmc Compensatory premotor activity during affective face processing in subclinical carriers of a single mutant Parkin allele
    Silke Anders
    Department of Neurology, University of Lubeck, Ratzeburger Alle 160, 23538 Lubeck, Germany
    Brain 135:1128-40. 2012
    ..A breakdown of this compensatory mechanism might lead to the impairment of facial expressivity and facial emotion recognition observed in manifest Parkinson's disease...
  47. doi request reprint Responsiveness to distracting stimuli, though increased in Parkinson's disease, is decreased in asymptomatic PINK1 and Parkin mutation carriers
    Rolf Verleger
    Department of Neurology, University of Lubeck, Lubeck, Germany
    Neuropsychologia 48:467-76. 2010
    ..Disease progression might prevent symptomatic PD patients from using this compensatory mechanism, leading to increased disinhibition of their lateral motor system...
  48. ncbi request reprint Autosomal dominant myoclonus-dystonia and Tourette syndrome in a family without linkage to the SGCE gene
    Michael Orth
    Department of Neurology, University Medical Centre Hamburg Eppendorf, Hamburg, Germany
    Mov Disord 22:2090-6. 2007
    ..The SGCE and the SLITRK1 gene were sequenced and investigated by gene dosage analysis in selected family members. Linkage to the SGCE, DYT15, DYT1, DRD2, and SLITRK1 loci was also tested...
  49. ncbi request reprint Role of ethnicity on the association of MAPT H1 haplotypes and subhaplotypes in Parkinson's disease
    Susan Winkler
    Department of Neurology, University of Lubeck, Lubeck, Germany
    Eur J Hum Genet 15:1163-8. 2007
    ..These results suggest that the role of H1 haplotypes in the etiology of PD may be ethnically dependent...
  50. ncbi request reprint Premutations in the FMR1 gene as a modifying factor in Parkin-associated Parkinson's disease?
    Katja Hedrich
    Department of Human Genetics, University of Lubeck, Lubeck, Germany
    Mov Disord 20:1060-2. 2005
    ..Of note, 1 of the affected premutation carriers had a heterozygous Parkin mutation...
  51. doi request reprint Homozygous THAP1 mutations as cause of early-onset generalized dystonia
    Susanne A Schneider
    Section of Clinical and Molecular Neurogenetics at the Department of Neurology, University of Lubeck, Lubeck, Germany
    Mov Disord 26:858-61. 2011
    ..Our data suggest that homozygous THAP1 mutations cause dystonia and may be associated with a less severe dysfunction of the encoded protein compared with heterozygous disease-causing mutations...
  52. doi request reprint Clinical neuroimaging and electrophysiological assessment of three DYT6 dystonia families
    Simone Zittel
    Department of Neurology, University Medical Center Hamburg Eppendorf, Hamburg, Germany
    Mov Disord 25:2405-12. 2010
    ..SN hyperechogenicity on TCS may represent an endophenotype in these patients. Pallidal DBS in two patients was unsatisfactory...
  53. doi request reprint Possible genetic heterogeneity of spinocerebellar ataxia linked to chromosome 15
    Anne Weissbach
    Section of Clinical and Molecular Neurogenetics, Department of Neurology, University of Luübeck, Luübeck, Germany
    Mov Disord 25:1577-82. 2010
    ..In addition, we excluded alterations in two candidate genes in the linked region, namely expansion of a polyglutamine-coding CAG repeat in ARID3B and mutations in SEMA6D...
  54. pmc Co-occurrence of affective and schizophrenia spectrum disorders with PINK1 mutations
    Susanne Steinlechner
    Department of Psychiatry and Psychotherapy, University of Lubeck, Ratzeburger Allee 160, D 23538 Lubeck, Germany
    J Neurol Neurosurg Psychiatry 78:532-5. 2007
    ..To investigate a possible association of mutations in the PTEN-induced putative kinase 1 (PINK1) gene with psychiatric disorders in a large family with monogenic parkinsonism...
  55. doi request reprint Exome sequencing in a family with restless legs syndrome
    Anne Weissbach
    Section of Clinical and Molecular Neurogenetics at the Department of Neurology, University of Lubeck, Lubeck, Germany
    Mov Disord 27:1686-9. 2012
    ..Restless legs syndrome (RLS) has a high familial aggregation. To date, several loci and genetic risk factors have been identified, but no causative gene mutation has been found...
  56. doi request reprint Structural findings in the basal ganglia in genetically determined and idiopathic Parkinson's disease
    Kathrin Reetz
    Department of Neurology, University of Luebeck, Luebeck, Germany
    Mov Disord 24:99-103. 2009
    ..In symptomatic PD, BG are subject to a progressive atrophy, which gradually increases with disease severity and duration...
  57. doi request reprint Motor complications in patients form the German Competence Network on Parkinson's disease and the DRD3 Ser9Gly polymorphism
    Sebastian Paus
    Department of Neurology, University of Bonn, Bonn, Germany
    Mov Disord 24:1080-4. 2009
    ..Duration of PD was confirmed as the most important clinical risk factor, followed by age of disease onset and female sex. Additional studies incorporating grading of motor complications, and combinations of risk genotypes, are warranted...
  58. doi request reprint The dystonia gene DYT1 is repressed by the transcription factor THAP1 (DYT6)
    Frank J Kaiser
    Institute of Human Genetics, University of Lubeck, Lubeck, Germany
    Ann Neurol 68:554-9. 2010
    ..Our data demonstrate that THAP1 regulates the transcription of TOR1A, suggesting transcriptional dysregulation as a cause of dystonia...
  59. pmc Substantia nigra hyperechogenicity with LRRK2 G2019S mutations
    Norbert Brüggemann
    Section of Clinical and Molecular Neurogenetics at the Department of Neurology, University of Lubeck, Lubeck, Germany
    Mov Disord 26:885-8. 2011
    ..Transcranial sonography (TCS) area of hyperechogenicity in the substantia nigra (aSN) is increased in idiopathic and genetic Parkinson's disease (PD)...
  60. ncbi request reprint Genetic association study of the P-type ATPase ATP13A2 in late-onset Parkinson's disease
    Aleksandar Rakovic
    Department of Neurology, University of Lubeck, Lubeck, Germany
    Mov Disord 24:429-33. 2009
    ..7 years) and 150 age- and ethnic-matched controls. In conclusion, we found no consistent evidence for an association between ATP13A2 and late-onset PD...
  61. ncbi request reprint ATP13A2 mutations impair mitochondrial function in fibroblasts from patients with Kufor-Rakeb syndrome
    Anne Grünewald
    Section of Clinical and Molecular Neurogenetics, Department of Neurology, University of Lubeck, Lubeck, Germany
    Neurobiol Aging 33:1843.e1-7. 2012
    ..These findings collectively suggest that ATP13A2 contributes to the maintenance of a healthy mitochondrial pool, supporting the hypothesis that impaired mitochondrial clearance represents an important pathogenic mechanism underlying KRS...
  62. doi request reprint Restless legs syndrome as a possible predictor for psychiatric disorders in parents of children with ADHD
    Susanne Steinlechner
    Department of Psychiatry and Psychotherapy, University of Luebeck, Ratzeburger Allee 160, Luebeck, Germany
    Eur Arch Psychiatry Clin Neurosci 261:285-91. 2011
    ..ADHD and anxiety disorders, in a subgroup of parents from ADHD children. Synaptic dysfunction affecting dopaminergic transmission among other transmitter systems may be a common final pathway related to the phenotypic spectrum of ADHD...
  63. pmc CAG repeats determine brain atrophy in spinocerebellar ataxia 17: a VBM study
    Kathrin Reetz
    Department of Neurology, RWTH Aachen University, Aachen, Germany
    PLoS ONE 6:e15125. 2011
    ..Abnormal repeat length has been associated with an earlier age of onset and more severe disease progression in the rare neurodegenerative disorder spinocerebellar ataxia 17 (SCA17)...
  64. ncbi request reprint Focal dystonia as a presenting sign of spinocerebellar ataxia 17
    Johann M Hagenah
    Department of Neurology, University of Lubeck, Lubeck, Germany
    Mov Disord 19:217-20. 2004
    ..In conclusion, SCA17 mutations should be considered in the differential diagnosis of focal dystonia...
  65. ncbi request reprint Biological effects of the PINK1 c.1366C>T mutation: implications in Parkinson disease pathogenesis
    Anne Grünewald
    Department of Neurology, University of Lubeck, Ratzeburger Allee 160, 23538 Lubeck, Germany
    Neurogenetics 8:103-9. 2007
    ..1366C>T mutation...
  66. doi request reprint The DRD2 TaqIA polymorphism and demand of dopaminergic medication in Parkinson's disease
    Sebastian Paus
    Department of Neurology, University of Bonn, Bonn, Germany
    Mov Disord 23:599-602. 2008
    ..We propose a practicable system of measuring dopaminergic treatment for future pharmacogenetic studies in PD...
  67. doi request reprint A novel OPA3 mutation revealed by exome sequencing: an example of reverse phenotyping
    Beenish Arif
    Institute of Neurogenetics, University of Lubeck, Lubeck, Germany
    JAMA Neurol 70:783-7. 2013
    ..We sought to unravel the genetic cause in a consanguineous Pakistani family with a complex neurological phenotype...
  68. doi request reprint Genetics of Parkinson disease and other movement disorders
    Kishore R Kumar
    Section of Clinical and Molecular Neurogenetics, Department of Neurology, University of Lubeck, Lubeck, Germany
    Curr Opin Neurol 25:466-74. 2012
    ..We will review the recent advances in the genetics of Parkinson disease and other movement disorders such as dystonia, essential tremor and restless legs syndrome (RLS)...
  69. ncbi request reprint Beneficial prenatal levodopa therapy in autosomal recessive guanosine triphosphate cyclohydrolase 1 deficiency
    Norbert Brüggemann
    Section of Clinical and Molecular Neurogenetics, Department of Neurology, University of Lubeck, Germany
    Arch Neurol 69:1071-5. 2012
    ..To report the first prenatal dopaminergic replacement therapy in autosomal recessive (AR) guanosine triphosphate cyclohydrolase 1 (GTPCH) deficiency without hyperphenylalaninemia...
  70. doi request reprint Translational research in neurology and neuroscience 2011: movement disorders
    Christine Klein
    Section of Clinical and Molecular Neurogenetics, Department of Neurology, University of Lubeck, Lubeck, Germany
    Arch Neurol 68:709-16. 2011
    ..Aetiology and pathogenesis, biomarker directions, and causal treatment opportunities are discussed for each disease, followed by a brief discussion drawing attention to important translational initiatives...
  71. ncbi request reprint Rapid and reliable detection of exon rearrangements in various movement disorders genes by multiplex ligation-dependent probe amplification
    Ana Djarmati
    Department of Neurology, University of Lubeck, Lubeck, Germany
    Mov Disord 22:1708-14. 2007
    ....
  72. ncbi request reprint Role of parkin mutations in 111 community-based patients with early-onset parkinsonism
    Martin Kann
    Department of Neurology, Medical University of Lubeck, Lubeck, Germany
    Ann Neurol 51:621-5. 2002
    ..In summary, parkin mutations accounted for a low but significant percentage of early-onset parkinsonism patients in a community-derived sample...
  73. doi request reprint 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...
  74. doi request reprint Phenotypic spectrum of musician's dystonia: a task-specific disorder?
    Alexander Schmidt
    Section of Clinical and Molecular Neurogenetics, University of Luebeck, Lubeck, Germany
    Mov Disord 26:546-9. 2011
    ..Musician's dystonia (MD) is traditionally considered a sporadic and task-specific movement disorder...
  75. ncbi request reprint Impaired sense of smell and color discrimination in monogenic and idiopathic Parkinson's disease
    Lena Kertelge
    Department of Psychiatry and Psychotherapy, University of Luebeck, Luebeck, Germany
    Mov Disord 25:2665-9. 2010
    ..Second, olfaction differed between carriers with one and two mutations in Parkin/PINK1-associated PD. Third, olfaction and color discrimination impairment do not necessarily evolve in parallel...
  76. doi request reprint Arm tremor in cervical dystonia--is it a manifestation of dystonia or essential tremor?
    Sarah Schiebler
    Department of Neurology, University Medical Center Hamburg Eppendorf, Hamburg, Germany
    Mov Disord 26:1789-92. 2011
    ..From this point of view, we outline this tremor debate and add some new clinical data...
  77. ncbi request reprint Brain parenchyma sonography detects preclinical parkinsonism
    Uwe Walter
    Department of Neurology, University of Rostock, Rostock, Germany
    Mov Disord 19:1445-9. 2004
    ..In 2 asymptomatic PMC, PET and BPS were normal. However, in another 2 asymptomatic PET-normal PMC, SN hyperechogenicity could be detected. Data suggest SN hyperechogenicity as an early marker to detect preclinical parkinsonism...
  78. ncbi request reprint Life-long increase of substantia nigra hyperechogenicity in transcranial sonography
    Johann Hagenah
    Department of Neurology, University of Lubeck, Ratzeburger Allee 160, 23538 Lubeck, Germany
    Neuroimage 51:28-32. 2010
    ..The increase of SN hyperechogenicity over time suggests that the biological process underlying this ultrasound finding may be more dynamic and possibly progressive than previously thought...
  79. doi request reprint What is the role of genetic testing in movement disorders practice?
    Susanne A Schneider
    Section of Clinical and Molecular Neurogenetics at the Department of Neurology, University of Lubeck, Ratzeburger Allee 160, 23538, Lubeck, Germany
    Curr Neurol Neurosci Rep 11:351-61. 2011
    ..We review these and other critical points and recent developments regarding genetic testing in the field of movement disorders...
  80. ncbi request reprint Epsilon-sarcoglycan mutations found in combination with other dystonia gene mutations
    Christine Klein
    Department of Neurology, Medical University of Lubeck, Lubeck, Germany
    Ann Neurol 52:675-9. 2002
    ..In both of the latter families, we also found a mutation of SGCE. The molecular mechanisms through which the detected mutations may contribute to myoclonus-dystonia remain to be determined...
  81. ncbi request reprint Botulinum toxin B as an effective and safe treatment for neuroleptic-induced sialorrhea
    Susanne Steinlechner
    Department of Psychiatry and Psychotherapy, University of Luebeck, Ratzeburger Allee 160, 23538 Luebeck, Germany
    Psychopharmacology (Berl) 207:593-7. 2010
    ..Sialorrhea also occurs in neurological disorders such as Parkinson's disease (PD). For neurological diseases, several studies have demonstrated botulinum toxin type B to be a safe and effective treatment...
  82. doi request reprint Basal ganglia hyperechogenicity does not distinguish between patients with primary dystonia and healthy individuals
    Johann Hagenah
    Section of Clinical and Molecular Neurogenetics, University of Lubeck, Ratzeburger Allee 160, 23538 Lubeck, Germany
    J Neurol 258:590-5. 2011
    ..It remains to be explored whether this is due to a true absence of signal alterations in the basal ganglia of dystonia patients or to limitations of the current technology used...
  83. ncbi request reprint Distinct basal ganglia hyperechogenicity in idiopathic basal ganglia calcification
    Norbert Brüggemann
    Schilling Section of Clinical and Molecular Neurogenetics, University of Lubeck, Lubeck, Germany
    Mov Disord 25:2661-4. 2010
    ..In addition to atypical parkinsonian syndromes such as progressive supranuclear palsy and multiple system atrophy, IBGC is thus another differential diagnosis of parkinsonism with basal ganglia hyperechogenicity...
  84. 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
    ....
  85. ncbi request reprint Implications of genetics on the diagnosis and care of patients with Parkinson disease
    Christine Klein
    Department of Neurology and Human Genetics, University of Lubeck, Lubeck, Germany
    Arch Neurol 63:328-34. 2006
    ....
  86. doi request reprint Myopathy causing camptocormia in idiopathic Parkinson's disease: a multidisciplinary approach
    Simone Spuler
    Department of Neurology, Neurosurgery and Neuroradiology, Charite University Medicine Berlin, Berlin, Germany
    Mov Disord 25:552-9. 2010
    ..Interestingly, heterozygous variants in the Parkin gene were found in 2 of 9 investigated patients. We conclude that CC and HD in PD are predominantly myopathic. Aberrant protein aggregation may link PD and CC...
  87. ncbi request reprint The striatal dopaminergic deficit is dependent on the number of mutant alleles in a family with mutations in the parkin gene: evidence for enzymatic parkin function in humans
    Rüdiger Hilker
    Department of Neurology, Medical University of Cologne, Cologne, Germany
    Neurosci Lett 323:50-4. 2002
    ..Thus, parkinsonism in parkin gene carriers may be related to abnormal nigral protein accumulation in the presence of a suprathreshold enzyme dysfunction...
  88. ncbi request reprint Parkinson disease, 10 years after its genetic revolution: multiple clues to a complex disorder
    Christine Klein
    Department of Neurology, University of Lubeck, Ratzeburger Allee 160, 23538 Lubeck, Germany
    Neurology 69:2093-104. 2007
    ....
  89. ncbi request reprint Family history of primary movement disorders as a predictor for neuroleptic-induced extrapyramidal symptoms
    Rebekka Lencer
    Department of Psychiatry and Psychotherapy, University of Lubeck, Germany
    Br J Psychiatry 185:465-71. 2004
    ..A genetic susceptibility to extrapyramidal symptoms caused by treatment with neuroleptic medication has been suggested...
  90. doi request reprint Genetics of primary torsion dystonia
    Norbert Brüggemann
    Schilling Section of Clinical and Molecular Neurogenetics, Department of Neurology, University of Lubeck, Ratzeburger Allee 160, 23538, Lubeck, Germany
    Curr Neurol Neurosci Rep 10:199-206. 2010
    ....
  91. ncbi request reprint Homozygous and heterozygous PINK1 mutations: considerations for diagnosis and care of Parkinson's disease patients
    Cindy Zadikoff
    Movement Disorders Centre, Toronto Western Hospital, Toronto, Ontario, Canada
    Mov Disord 21:875-9. 2006
    ..We describe two unrelated cases with PINK1 mutations (homozygous nonsense and heterozygous missense) that highlight issues regarding the role of heterozygous mutations and the utility of genetic screening in patient care...
  92. ncbi request reprint The phenotypic spectrum of rapid-onset dystonia-parkinsonism (RDP) and mutations in the ATP1A3 gene
    Allison Brashear
    Department of Neurology, Wake Forest University, Winston Salem, NC 27157, USA
    Brain 130:828-35. 2007
    ..A positive family history is not required. Genetic testing for the ATP1A3 gene is recommended when abrupt onset, rostrocaudal gradient and prominent bulbar findings are present...
  93. ncbi request reprint LRRK2 G2019S as a cause of Parkinson's disease in Ashkenazi Jews
    Laurie J Ozelius
    N Engl J Med 354:424-5. 2006
  94. ncbi request reprint Lewy body Parkinson's disease in a large pedigree with 77 Parkin mutation carriers
    Peter P Pramstaller
    Department of Neurology, Central Hospital, Bolzano Bozen, Italy
    Ann Neurol 58:411-22. 2005
    ....
  95. 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...
  96. ncbi request reprint Novel homozygous p.E64D mutation in DJ1 in early onset Parkinson disease (PARK7)
    Robert Hering
    Department of Medical Genetics, University of Tubingen, Tubingen, Germany
    Hum Mutat 24:321-9. 2004
    ....
  97. ncbi request reprint Parkin gene alterations in hepatocellular carcinoma
    Fang Wang
    Division of Experimental Pathology, Department of Laboratory Medicine and Pathology, Mayo Clinic College of Medicine, Rochester, Minnesota, USA
    Genes Chromosomes Cancer 40:85-96. 2004
    ..Therefore, we suggest that Parkin may be involved in tumor suppression and that the loss of Parkin contributes to the development of hepatocarcinoma...
  98. ncbi request reprint The R98Q variation in DJ-1 represents a rare polymorphism
    Katja Hedrich
    Ann Neurol 55:145; author reply 145-6. 2004
  99. ncbi request reprint NR4A2 mutations are rare among European patients with familial Parkinson's disease
    Claudia Wellenbrock
    Ann Neurol 54:415. 2003
  100. ncbi request reprint Frequency of parkin mutations in late-onset Parkinson's disease
    Christine Klein
    Ann Neurol 54:415-6; author reply 416-7. 2003
  101. ncbi request reprint [18F]-Dopa positron emission tomography imaging in early-stage, non-parkin juvenile parkinsonism
    Pramod K Pal
    Neurodegenerative Disorders Centre, Vancouver Hospital and Health Sciences Centre, University of British Columbia, Vancouver, British Columbia, Canada
    Mov Disord 17:789-94. 2002
    ..Extensive DNA analysis in this patient did not show mutations in the parkin gene...