L Schols

Summary

Country: Germany

Publications

  1. pmc Spinocerebellar ataxia type 6: genotype and phenotype in German kindreds
    L Schols
    Department of Neurology, St Josef Hospital, Ruhr University, Bochum, Germany
    J Neurol Neurosurg Psychiatry 64:67-73. 1998
  2. doi request reprint Inventory of Non-Ataxia Signs (INAS): validation of a new clinical assessment instrument
    H Jacobi
    Department of Neurology, University Hospital of Bonn, Sigmund Freud Strase 25, Bonn, Germany
    Cerebellum 12:418-28. 2013
  3. ncbi request reprint Evaluation of the gamma-synuclein gene in German Parkinson's disease patients
    R Kruger
    Department of Neurology, Ruhr University, St Josef Hospital, Bochum, Germany
    Neurosci Lett 310:191-3. 2001
  4. ncbi request reprint Genetic background of apparently idiopathic sporadic cerebellar ataxia
    L Schols
    Neurologische Klinik der Ruhr Universität, St Josef Hospital, Bochum, Germany
    Hum Genet 107:132-7. 2000
  5. doi request reprint Baroreflex sensitivity and power spectral analysis in different extrapyramidal syndromes
    C Friedrich
    Autonomic and Neuroendocrinological Laboratory, Department of Neurology, University Clinic Carl Gustav Carus, Dresden University of Technology, Fetscherstrasse 74, 01307, Dresden, Germany
    J Neural Transm 115:1527-36. 2008
  6. ncbi request reprint Modulation of disease risk according to a cathepsin D / apolipoprotein E genotype in Parkinson's disease
    T Schulte
    Department of Molecular Human Genetics, Ruhr University, Bochum, Germany
    J Neural Transm 110:749-55. 2003
  7. ncbi request reprint SCA2 trinucleotide expansion in German SCA patients
    O Riess
    Molecular Human Genetics, Ruhr University, Bochum, Germany
    Neurogenetics 1:59-64. 1997
  8. pmc The natural history of spinocerebellar ataxia type 1, 2, 3, and 6: a 2-year follow-up study
    H Jacobi
    Department of Neurology, University Hospital of Bonn, Bonn, Germany
    Neurology 77:1035-41. 2011
  9. ncbi request reprint SCA6 is caused by moderate CAG expansion in the alpha1A-voltage-dependent calcium channel gene
    O Riess
    Molecular Human Genetics, Ruhr University, Bochum, Germany
    Hum Mol Genet 6:1289-93. 1997
  10. ncbi request reprint Differential stability of the (GAA)n tract in the Friedreich ataxia (STM7) gene
    C Epplen
    Ruhr University, Bochum, Germany
    Hum Genet 99:834-6. 1997

Collaborators

Detail Information

Publications28

  1. pmc Spinocerebellar ataxia type 6: genotype and phenotype in German kindreds
    L Schols
    Department of Neurology, St Josef Hospital, Ruhr University, Bochum, Germany
    J Neurol Neurosurg Psychiatry 64:67-73. 1998
    ..The aim was to further characterise the SCA6 phenotype..
  2. doi request reprint Inventory of Non-Ataxia Signs (INAS): validation of a new clinical assessment instrument
    H Jacobi
    Department of Neurology, University Hospital of Bonn, Sigmund Freud Strase 25, Bonn, Germany
    Cerebellum 12:418-28. 2013
    ..As such, it is useful as a supplement to the measures of ataxia, but not as a primary outcome measure in future interventional trials...
  3. ncbi request reprint Evaluation of the gamma-synuclein gene in German Parkinson's disease patients
    R Kruger
    Department of Neurology, Ruhr University, St Josef Hospital, Bochum, Germany
    Neurosci Lett 310:191-3. 2001
    ..In addition no evidence for an increased risk of combined genotypes of polymorphisms in the gamma-synuclein and the alpha-synuclein gene was found. Therefore, our results do not support a major role of the gamma-synuclein gene in PD...
  4. ncbi request reprint Genetic background of apparently idiopathic sporadic cerebellar ataxia
    L Schols
    Neurologische Klinik der Ruhr Universität, St Josef Hospital, Bochum, Germany
    Hum Genet 107:132-7. 2000
    ..The frataxin trinucleotide expansion should be investigated in all sporadic ataxia patients with onset before age 40, even when the phenotype is atypical for Friedreich's ataxia...
  5. doi request reprint Baroreflex sensitivity and power spectral analysis in different extrapyramidal syndromes
    C Friedrich
    Autonomic and Neuroendocrinological Laboratory, Department of Neurology, University Clinic Carl Gustav Carus, Dresden University of Technology, Fetscherstrasse 74, 01307, Dresden, Germany
    J Neural Transm 115:1527-36. 2008
    ..This may have fundamental impact on the cardiovascular prognosis of patients with extrapyramidal disease...
  6. ncbi request reprint Modulation of disease risk according to a cathepsin D / apolipoprotein E genotype in Parkinson's disease
    T Schulte
    Department of Molecular Human Genetics, Ruhr University, Bochum, Germany
    J Neural Transm 110:749-55. 2003
    ..24, p = 0.002). Our findings suggest interference of CTSD and APOE polymorphisms in the pathogenesis of PD, in the sense of modulating disease risk...
  7. ncbi request reprint SCA2 trinucleotide expansion in German SCA patients
    O Riess
    Molecular Human Genetics, Ruhr University, Bochum, Germany
    Neurogenetics 1:59-64. 1997
    ..With one exception, the trinucleotide expansion was not observed in 842 ataxia patients without a family history of the disease. The SCA2 mutation causes the disease in nearly 14% of autosomal dominant SCA in Germany...
  8. pmc The natural history of spinocerebellar ataxia type 1, 2, 3, and 6: a 2-year follow-up study
    H Jacobi
    Department of Neurology, University Hospital of Bonn, Bonn, Germany
    Neurology 77:1035-41. 2011
    ..We report the results of the 1- and 2-year follow-up visits...
  9. ncbi request reprint SCA6 is caused by moderate CAG expansion in the alpha1A-voltage-dependent calcium channel gene
    O Riess
    Molecular Human Genetics, Ruhr University, Bochum, Germany
    Hum Mol Genet 6:1289-93. 1997
    ..Most importantly, the trinucleotide expansion was observed in four ataxia patients without obvious family history of the disease which necessitates a search for the SCA6 (CAG)n expansion even in sporadic patients...
  10. ncbi request reprint Differential stability of the (GAA)n tract in the Friedreich ataxia (STM7) gene
    C Epplen
    Ruhr University, Bochum, Germany
    Hum Genet 99:834-6. 1997
    ..Therefore the shortest known STM7 allele conferring FA is (GAA)66. These novel facts have to be considered for differential diagnosis and definition of the FA carrier state...
  11. doi request reprint Disease severity affects quality of life of hereditary spastic paraplegia patients
    S Klimpe
    Department of Neurology, University Medical Center of the Johannes Gutenberg University Mainz, Mainz, Germany
    Eur J Neurol 19:168-71. 2012
    ..To assess its impact on Health-Related Quality of Life (HRQoL), we analyzed the correlation of HRQoL with disease severity and clinical symptoms in HSP...
  12. doi request reprint The cold hand sign in multiple system atrophy: skin perfusion revisited
    K Pietzarka
    Autonomic and Neuroendocrinological Laboratory, Department of Neurology, University of Technology Dresden, Fetscherstrasse 74, 01307 Dresden, Germany
    J Neural Transm 117:475-9. 2010
    ..By measuring skin temperature and blood flow, the presence of CHS can be diagnosed in MSA patients. Further studies are necessary to understand regulation of skin perfusion in patients with extrapyramidal disease...
  13. doi request reprint Frequency and phenotype of SPG11 and SPG15 in complicated hereditary spastic paraplegia
    R Schule
    Department of Neurology, University of Tubingen, Tubingen, Germany
    J Neurol Neurosurg Psychiatry 80:1402-4. 2009
    ..Clinically, both are characterised by complicated HSP and a rather similar phenotype consisting of early onset spastic paraplegia, cognitive deficits, thin corpus callosum (TCC), peripheral neuropathy and mild cerebellar ataxia...
  14. doi request reprint SCA Functional Index: a useful compound performance measure for spinocerebellar ataxia
    T Schmitz-Hübsch
    Department of Neurology, University Hospital of Bonn, Sigmund Freud Str 25, D 53105 Bonn, Germany
    Neurology 71:486-92. 2008
    ..To evaluate the usefulness of functional measures in patients with spinocerebellar ataxia (SCA)...
  15. ncbi request reprint Scale for the assessment and rating of ataxia: development of a new clinical scale
    T Schmitz-Hübsch
    Department of Neurology, University Hospital of Bonn, Sigmund Freud Str 25, D 53105 Bonn, Germany
    Neurology 66:1717-20. 2006
    ..To develop a reliable and valid clinical scale measuring the severity of ataxia...
  16. ncbi request reprint Polymorphisms in the PMP-22 gene region (17p11.2-12) are crucial for simplified diagnosis of duplications/deletions
    A Haupt
    Ruhr Universitat, Bochum, Germany
    Hum Genet 99:688-91. 1997
    ..Polymorphism within a specific restriction enzyme recognition site is crucial for both Southern blot and PCR analyses of junction fragments...
  17. doi request reprint Autosomal dominant spastic paraplegia with peripheral neuropathy maps to chr12q23-24
    R Schule
    Department of Neurology, University of Tubingen, Tubingen, Germany
    Neurology 72:1893-8. 2009
    ..In this study, we aimed to map the disease locus in a German family segregating autosomal dominant complicated HSP...
  18. ncbi request reprint Prevalence of antigliadin antibodies in ataxia patients
    M Abele
    Department of Neurology, University of Bonn, Germany
    Neurology 60:1674-5. 2003
    ..Although we found a trend toward a higher prevalence of antigliadin antibodies in patients with sporadic ataxia and dominant ataxia, our data do not support an association of ataxia with antigliadin antibodies...
  19. ncbi request reprint Neurophysiological findings in SPG4 patients differ from other types of spastic paraplegia
    T Schulte
    Department of Neurology, St Josef Hospital, Bochum, Germany
    Neurology 60:1529-32. 2003
    ..Motor evoked potentials and nerve conduction studies were almost normal in those with SPG4. In contrast, non-SPG4 families had prolonged central motor conduction times or marked peripheral neuropathy, or both...
  20. doi request reprint Responsiveness of different rating instruments in spinocerebellar ataxia patients
    T Schmitz-Hübsch
    Department of Neurology, University Hospital of Bonn, Sigmund Freud Str 25, D 53105 Bonn, Germany
    Neurology 74:678-84. 2010
    ..To determine the longitudinal metric properties of recently developed clinical assessment tools in spinocerebellar ataxia (SCA)...
  21. ncbi request reprint The aetiology of sporadic adult-onset ataxia
    M Abele
    Department of Neurology, University of Bonn, Germany
    Brain 125:961-8. 2002
    ..Compared with MSA, disease progression was significantly slower...
  22. doi request reprint Valsalva manoeuvre in patients with different Parkinsonian disorders
    C Schmidt
    Autonomic and Neuroendocrinological Laboratory, Department of Neurology, University Clinic Carl Gustav Carus, Dresden University of Technology, Fetscherstrasse 74, Dresden 01307, Germany
    J Neural Transm 116:875-80. 2009
    ..Metronomic breathing and tilt-table test seem more capable as parasympathetic resp. and sympathetic function tests to identify cardiovascular abnormalities in PS patients...
  23. ncbi request reprint Familial parkinsonism with synuclein pathology: clinical and PET studies of A30P mutation carriers
    R Kruger
    Department of Neurology, St Josef Hospital, Ruhr University, Bochum, Germany
    Neurology 56:1355-62. 2001
    ..The authors studied carriers of the A30P mutation to compare the phenotype of this mutation with idiopathic PD (IPD) and to assess nigrostriatal dopaminergic function in symptomatic and preclinical mutation carriers...
  24. ncbi request reprint Regular insulin secretory oscillations despite impaired ATP synthesis in Friedreich Ataxia patients
    C Meyer
    Department of Neurology, St Josef Hospital, Ruhr University Bochum, Germany
    Horm Metab Res 38:683-7. 2006
    ..Supported by EX VIVO evidence, these findings tentatively suggest that pulsatile insulin secretion might not be exclusively dependent on ATP feedback inhibition in humans...
  25. ncbi request reprint Vertebral body infarction indicating midthoracic spinal stroke
    C Börnke
    Department of Neurology, St Josef Hospital, Ruhr University Bochum, Germany
    Spinal Cord 40:244-7. 2002
    ..Case report...
  26. ncbi request reprint Trinucleotide expansion within the MJD1 gene presents clinically as spinocerebellar ataxia and occurs most frequently in German SCA patients
    L Schols
    Department of Neurology, St Josef Hospital, Bochum, Germany
    Hum Mol Genet 4:1001-5. 1995
    ..These results demonstrate that the MJD mutation causes the disease phenotype of most SCA patients in Germany...
  27. doi request reprint Quantitative assessment of brain stem and cerebellar atrophy in spinocerebellar ataxia types 3 and 6: impact on clinical status
    L Eichler
    Department of Diagnostic and Interventional Radiology and Nuclear Medicine, St Josef Hospital, Ruhr University Bochum, Germany
    AJNR Am J Neuroradiol 32:890-7. 2011
    ..We, therefore, aimed to investigate the occurrence and impact of regional infratentorial brain volume differences in patients with SCA3 and SCA6...
  28. doi request reprint Spinocerebellar ataxia types 1, 2, 3, and 6: disease severity and nonataxia symptoms
    T Schmitz-Hübsch
    Department of Neurology, University Hospital of Bonn, Bonn, Germany
    Neurology 71:982-9. 2008
    ..To identify factors that determine disease severity and clinical phenotype of the most common spinocerebellar ataxias (SCAs), we studied 526 patients with SCA1, SCA2, SCA3. or SCA6...