T Gasser

Summary

Affiliation: University of Munich
Country: Germany

Publications

  1. ncbi Genetics of Parkinson's disease
    T Gasser
    Department of Neurology, Ludwig Maximilians Universitat, Munich, Germany
    J Neurol 248:833-40. 2001
  2. ncbi A susceptibility locus for Parkinson's disease maps to chromosome 2p13
    T Gasser
    Neurologische Klinik, Klinikum Grosshadern, Ludwig Maximilians Universitat, Munchen, Germany
    Nat Genet 18:262-5. 1998
  3. ncbi Inherited Myoclonus-dystonia syndrome: narrowing the 7q21-q31 locus in German families
    F Asmus
    Neurologische Klinik, Klinikum Grosshadern, , , Germany
    Ann Neurol 49:121-4. 2001
  4. doi Polymorphisms in the receptor for GDNF (RET) are not associated with Parkinson's disease in Southern Germany
    C B Lücking
    Department of Neurology, Ludwig Maximilians University, Marchioninistr 15, 81377 Munchen, Germany
    Neurobiol Aging 31:167-8. 2010
  5. ncbi Candidate gene studies in focal dystonia
    D Sibbing
    Department of Neurology, Philipps University, Marburg, Germany
    Neurology 61:1097-101. 2003
  6. ncbi Small in-frame deletions and missense mutations in CADASIL: 3D models predict misfolding of Notch3 EGF-like repeat domains
    M Dichgans
    Department of Neurology, Klinikum Grosshadern, Ludwig Maximilians University, Munich, Germany
    Eur J Hum Genet 8:280-5. 2000
  7. ncbi Striatal dopamine transporter binding assessed by [I-123]IPT and single photon emission computed tomography in patients with early Parkinson's disease: implications for a preclinical diagnosis
    J Schwarz
    Department of Neurology, University of Ulm, Germany
    Arch Neurol 57:205-8. 2000
  8. ncbi Liposome-mediated gene transfer to fetal human ventral mesencephalic explant cultures
    M Bauer
    Department of Neurology, Klinikum Grobetahadern, University of Munich, Marchioninistrabetae 15, 81366, Munich, Germany
    Neurosci Lett 308:169-72. 2001
  9. ncbi Clinical characteristics and frequency of the hereditary restless legs syndrome in a population of 300 patients
    J Winkelmann
    Max Planck Institute of Psychiatry, Section of Neurology, Munich, Germany
    Sleep 23:597-602. 2000
  10. ncbi Reduced cerebrovascular CO(2) reactivity in CADASIL: A transcranial Doppler sonography study
    T Pfefferkorn
    Department of Neurology, Klinikum Grosshadern,
    Stroke 32:17-21. 2001

Detail Information

Publications62

  1. ncbi Genetics of Parkinson's disease
    T Gasser
    Department of Neurology, Ludwig Maximilians Universitat, Munich, Germany
    J Neurol 248:833-40. 2001
    ..Nevertheless, the elucidation of the molecular sequence of events leading to nigral degeneration in clearly inherited cases is likely to shed light also on the molecular pathogenesis of the common sporadic form of this disorder...
  2. ncbi A susceptibility locus for Parkinson's disease maps to chromosome 2p13
    T Gasser
    Neurologische Klinik, Klinikum Grosshadern, Ludwig Maximilians Universitat, Munchen, Germany
    Nat Genet 18:262-5. 1998
    ..The penetrance of the mutation appears to be low, most likely below 40%. This is compatible with a possible role of this locus not only in familial, but also in typical (sporadic) PD...
  3. ncbi Inherited Myoclonus-dystonia syndrome: narrowing the 7q21-q31 locus in German families
    F Asmus
    Neurologische Klinik, Klinikum Grosshadern, , , Germany
    Ann Neurol 49:121-4. 2001
    ..99. The observation of key recombinations in one family refined the disease locus to a 7.2 cM region flanked by the markers D7S652 and D7S2480...
  4. doi Polymorphisms in the receptor for GDNF (RET) are not associated with Parkinson's disease in Southern Germany
    C B Lücking
    Department of Neurology, Ludwig Maximilians University, Marchioninistr 15, 81377 Munchen, Germany
    Neurobiol Aging 31:167-8. 2010
    ....
  5. ncbi Candidate gene studies in focal dystonia
    D Sibbing
    Department of Neurology, Philipps University, Marburg, Germany
    Neurology 61:1097-101. 2003
    ..Mutations in the DYT1 gene can cause focal dystonia, and an association with a polymorphism in the D5 receptor gene (DRD5) has been reported but not confirmed...
  6. ncbi Small in-frame deletions and missense mutations in CADASIL: 3D models predict misfolding of Notch3 EGF-like repeat domains
    M Dichgans
    Department of Neurology, Klinikum Grosshadern, Ludwig Maximilians University, Munich, Germany
    Eur J Hum Genet 8:280-5. 2000
    ..To study the potential effects of these mutations 3D homology models of the first six EGF domains were generated on the basis of NMR data from human fibrillin-1. These models predict domain misfolding for a subset of mutations...
  7. ncbi Striatal dopamine transporter binding assessed by [I-123]IPT and single photon emission computed tomography in patients with early Parkinson's disease: implications for a preclinical diagnosis
    J Schwarz
    Department of Neurology, University of Ulm, Germany
    Arch Neurol 57:205-8. 2000
    ..Specific binding to dopamine transporters may serve as a tool to detect early loss of nigrostriatal dopaminergic neurons in patients with Parkinson's disease...
  8. ncbi Liposome-mediated gene transfer to fetal human ventral mesencephalic explant cultures
    M Bauer
    Department of Neurology, Klinikum Grobetahadern, University of Munich, Marchioninistrabetae 15, 81366, Munich, Germany
    Neurosci Lett 308:169-72. 2001
    ..This finding might have implications for gene delivery and cell replacement strategies in Parkinson's disease...
  9. ncbi Clinical characteristics and frequency of the hereditary restless legs syndrome in a population of 300 patients
    J Winkelmann
    Max Planck Institute of Psychiatry, Section of Neurology, Munich, Germany
    Sleep 23:597-602. 2000
    ..1% vs. 2.6%, p < 0.05). Our study shows that patients with hereditary RLS may experience an earlier onset of the disease. Hereditary and non-hereditary RLS present with similiar clinical signs and symptoms...
  10. ncbi Reduced cerebrovascular CO(2) reactivity in CADASIL: A transcranial Doppler sonography study
    T Pfefferkorn
    Department of Neurology, Klinikum Grosshadern,
    Stroke 32:17-21. 2001
    ..The reduction of CO(2) reactivity in nondisabled CADASIL individuals suggests an early role of impaired cerebral vasoreactivity in the evolution of the disease...
  11. ncbi Markedly different course of Friedreich's ataxia in sib pairs with similar GAA repeat expansions in the frataxin gene
    T Klopstock
    Department of Neurology, Klinikum Grosshadern, University of Munich, Germany
    Acta Neuropathol 97:139-42. 1999
    ..In view of these results, genetic counseling and predictions on the course of FA are particularly difficult, even if an expansion mutation is found...
  12. ncbi Creatine supplementation in Parkinson disease: a placebo-controlled randomized pilot trial
    A Bender
    Department of Neurology, Klinikum Grosshadern, Klinikum Grosshadern, University of Munich, Germany
    Neurology 67:1262-4. 2006
    ..Cr improved patient mood and led to a smaller dose increase of dopaminergic therapy but had no effect on overall Unified Parkinson's Disease Rating Scale scores or dopamine transporter SPECT...
  13. ncbi Service-based survey of dystonia in munich
    E Castelon Konkiewitz
    Department of Neurology, Klinikum rechts der Isar, Technische Universitat Munchen, Germany
    Neuroepidemiology 21:202-6. 2002
    ..The most common focal primary dystonias were cervical dystonia with 5.4 (4.2-6.7) and essential blepharospasm with 3.1 (2.1-4.1) per 100,000 followed by laryngeal dystonia (spasmodic dysphonia) with 1.0 (0.4-1.5) per 100,000...
  14. ncbi Copper genes are not implicated in the pathogenesis of focal dystonia
    O Bandmann
    Department of Neurology, Philipps University Marburg, Germany
    Neurology 59:782-3. 2002
  15. ncbi A placebo-controlled crossover trial of creatine in mitochondrial diseases
    T Klopstock
    Department of Neurology, Ludwig Maximilians Universitat Munchen, Germany
    Neurology 55:1748-51. 2000
    ..Cr was well tolerated, but there were no significant effects with regard to exercise performance, eye movements, or activities of daily life. The power of this pilot study was limited and future multicenter trials are needed...
  16. ncbi Autosomal-dominant Parkinson's disease linked to 2p13 is not caused by mutations in transforming growth factor alpha (TGF alpha) (short communication)
    M Zink
    Neurologische Klinik, Klinikum Grosshadern, , Federal Republic of Germany
    J Neural Transm 108:1029-34. 2001
    ..This result excludes mutations in the coding region of TGF alpha as a cause for hereditary PD, but does not rule out a possible role of sequence variants in regulatory regions or splice sites...
  17. ncbi A case of amyotrophic lateral sclerosis with a very slow progression over 44 years
    K Grohme
    Department of Neurology, Klinikum Erfurt, , D-99089, Erfurt, Germany
    Neuromuscul Disord 11:414-6. 2001
    ..Informing ALS patients of the existence of documented cases with long-term survival can be a means of fostering hope when delivering the diagnosis...
  18. ncbi Cervical dystonia in monozygotic twins: case report and review of the literature
    S Wunderlich
    Department of Neurology, , , Germany
    Mov Disord 16:714-8. 2001
    ..These observations underline the role of inheritance in the pathogenesis of idiopathic dystonia but also indicate that some other factors contribute to the clinical presentation of dystonia...
  19. ncbi Parkin modulates gene expression in control and ceramide-treated PC12 cells
    P G Unschuld
    Klinik fur Neurologie, Ludwig Maximilians Universitat, Marchioninistr 15, 81377, Munchen, Germany
    Mol Biol Rep 33:13-32. 2006
    ..These results suggest that, in this assay, the cytoprotective effect of parkin might result not only from its E3-ligase activity, but also from direct or indirect modulation of gene expression in a time-dependent manner...
  20. ncbi GAG deletion in the DYT1 gene in early limb-onset idiopathic torsion dystonia in Germany
    C Kamm
    Department of Neurology, Klinikum Grosshadern, Ludwig Maximilians Universitat, Munchen, Germany
    Mov Disord 14:681-3. 1999
    ..This suggests that the GAG deletion is responsible for a major portion of cases of typical early limb-onset dystonia, but not for other types of dystonia, in our population...
  21. ncbi Mutations in the gene encoding epsilon-sarcoglycan cause myoclonus-dystonia syndrome
    A Zimprich
    Department of Neurology, Klinikum Grobhadern, Ludwig Maximilians University, Munich, Germany
    Nat Genet 29:66-9. 2001
    ..Pedigree analysis shows a marked difference in penetrance depending on the parental origin of the disease allele. This is indicative of a maternal imprinting mechanism, which has been demonstrated in the mouse epsilon-sarcoglycan gene...
  22. ncbi Glial cell line-derived neurotrophic factor up-regulates GTP-cyclohydrolase I activity and tetrahydrobiopterin levels in primary dopaminergic neurones
    M Bauer
    Department of Neurology, Klinikum Grosshadern, LMU Munchen, Germany
    J Neurochem 82:1300-10. 2002
    ..We conclude that GDNF, in addition to its action in structural differentiation, also promotes differentiation regarding expression and enzymatic activity of a crucial component in the dopaminergic biosynthetic pathway...
  23. ncbi NOTCH3 mutation involving three cysteine residues in a family with typical CADASIL
    M Dichgans
    Department of Neurology, Klinikum Grosshadern, Ludwig Maximilians Universitat, Munich, Germany
    Neurology 57:1714-7. 2001
    ..These data are consistent with the hypothesis that the change toward an odd number of cysteine residues within a given EGF repeat and therefore an unpaired, reactive cysteine residue is the common and critical molecular event in CADASIL...
  24. ncbi Quantitative MRI in CADASIL: correlation with disability and cognitive performance
    M Dichgans
    Department of Neurology, Klinikum Grosshadern, Ludwig Maximilians University, Munich, Germany
    Neurology 52:1361-7. 1999
    ....
  25. ncbi A novel SOD1 mutation in an Austrian family with amyotrophic lateral sclerosis
    B Bereznai
    Department of Neurology, Klinikum Grosshadern, Munich, Germany
    Neuromuscul Disord 7:113-6. 1997
    ..The mutation lies in a region involved in dimer contact in the three-dimensional structure of the SOD1 protein. This region comprises other known sites for ALS-causing mutations...
  26. pmc Pramipexole in patients with Parkinson's disease and marked drug resistant tremor: a randomised, double blind, placebo controlled multicentre study
    O Pogarell
    Department of Neurology, Philipps University of Marburg, Marburg, Germany
    J Neurol Neurosurg Psychiatry 72:713-20. 2002
    ..To compare the tremorlytic properties of pramipexole, a non-ergoline dopamine agonist to those of placebo as add on medication in patients with Parkinson's disease...
  27. pmc Tauopathies with parkinsonism: clinical spectrum, neuropathologic basis, biological markers, and treatment options
    A C Ludolph
    Department of Neurology, University of Ulm, Ulm, Germany
    Eur J Neurol 16:297-309. 2009
    ....
  28. pmc Parkin is transcriptionally regulated by ATF4: evidence for an interconnection between mitochondrial stress and ER stress
    L Bouman
    Adolf Butenandt Institute, Neurobiochemistry, Ludwig Maximilians University, Schillerstrasse 44, Munich, Germany
    Cell Death Differ 18:769-82. 2011
    ....
  29. ncbi The gene coding for glial cell line derived neurotrophic factor (GDNF) maps to chromosome 5p12-p13.1
    D Schindelhauer
    Abteilung für pädiatrische Genetik, Kinderpoliklinik, Ludwig Maximilians Universitat, Munich, Germany
    Genomics 28:605-7. 1995
  30. ncbi Molecular genetics of Parkinson's disease
    T Gasser
    Neurologische Klinik und Poliklinik, Klinikum Grosshadern, , Germany
    Adv Neurol 86:23-32. 2001
    ..However, the elucidation of the molecular sequence of events leading to nigral degeneration in these inherited cases is likely also to shed light on the molecular pathogenesis of the common sporadic disorder...
  31. ncbi A novel TITF-1 mutation causes benign hereditary chorea with response to levodopa
    F Asmus
    Department of Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research, Tuebingen, Germany
    Neurology 64:1952-4. 2005
    ..Surprisingly, treatment with levodopa improved gait dramatically and reduced chorea in two patients. Dopaminergic drugs should be considered a useful therapeutic option in BHC...
  32. ncbi The fragile X tremor ataxia syndrome in the differential diagnosis of multiple system atrophy: data from the EMSA Study Group
    C Kamm
    Department of Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research, Hoppe Seyler Strasse 3, University of Tubingen, 72086 Tübingen, Germany
    Brain 128:1855-60. 2005
    ..On the basis of our data, the EMSA Study Group does not recommend routine FMR1 genotyping in typical MSA patients...
  33. ncbi Comparison of alpha-dihydroergocryptine and levodopa monotherapy in Parkinson's disease: assessment of changes in DAT binding with [123I]IPT SPECT
    G Popperl
    Department of Nuclear Medicine, University of Munich, Germany
    J Neural Transm 111:1041-52. 2004
    ..The results of this pilot study suggest that as compared to levodopa monotherapy DEC may have beneficial effects on decline of dopamine transporter binding similar to those recently described for pramipexole...
  34. ncbi Familial dopa-responsive cervical dystonia
    S A Schneider
    Sobell Department of Motor Neuroscience and Movement Disorders, Institute of Neurology, UCL, London, UK
    Neurology 66:599-601. 2006
    ..These cases may represent new forms of dopa-responsive dystonia. Levodopa is advisable in all patients with young-onset cervical dystonia...
  35. ncbi L -dopa-induced adverse effects in PD and dopamine transporter gene polymorphism
    R Kaiser
    Institute of Clinical Pharmacology, Charite, Humboldt Universitat zu Berlin, Germany
    Neurology 60:1750-5. 2003
    ..To assess whether polymorphisms in the dopamine receptor genes and in the dopamine transporter gene (DAT ) are predictors of adverse effects of L -dopa...
  36. doi [Intermittent apomorphine injections as rescue therapy for advanced Parkinson's disease. Consensus statement]
    C Trenkwalder
    Zentrum für Parkinson Syndrome und Bewegungsstörungen, Paracelsus Elena Klinik, Klinikstrasse 16, 34128, Kassel, Deutschland
    Nervenarzt 79:475-9. 2008
    ..In the present consensus statement, concepts for the use of apomorphine are presented and discussed based on existing study results, indications, and contraindications. Recommendations for a practical approach are also provided...
  37. ncbi Correlations between clinical findings and magnetization transfer imaging metrics of tissue damage in individuals with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy
    G Iannucci
    Neuroimaging Research Unit, Department of Neuroscience, Scientific Institute Ospedale San Raffaele, Milan, Italy
    Stroke 32:643-8. 2001
    ..Brain tissue outside PD abnormalities is also damaged. This study suggests that the extent and the severity of the brain tissue damage are critical factors in determining clinical status in CADASIL...
  38. ncbi A wide variety of mutations in the parkin gene are responsible for autosomal recessive parkinsonism in Europe. French Parkinson's Disease Genetics Study Group and the European Consortium on Genetic Susceptibility in Parkinson's Disease
    N Abbas
    INSERM U289, Hopital de la Salpetriere, 47 Boulevard de l Hopital, 75651 Paris Cedex 13, France
    Hum Mol Genet 8:567-74. 1999
    ....
  39. ncbi Refinement of the PARK3 locus on chromosome 2p13 and the analysis of 14 candidate genes
    A B West
    Mayo Clinic Jacksonville, 4500 San Pablo Road, Jacksonville, Florida, FL 32224, USA
    Eur J Hum Genet 9:659-66. 2001
    ..5 Mb. Analysis of 14 genes within the region did not reveal any potentially pathogenic mutations segregating with the disease, implying that none of these genes are likely candidates for PARK3...
  40. pmc Lrrk2 R1441C parkinsonism is clinically similar to sporadic Parkinson disease
    K Haugarvoll
    Department of Neurology, Mayo Clinic College of Medicine, Jacksonville, FL 32224, USA
    Neurology 70:1456-60. 2008
    ..Several dominantly inherited pathogenic substitutions have been identified in different domains of the Lrrk2 protein. Herein, we characterize the clinical and genetic features associated with Lrrk2 p.R1441C...
  41. ncbi Comprehensive association analysis of the NOS2A gene with Parkinson disease
    C Schulte
    Hertie Institute for Clinical Brain Research, Section for Neurodegenerative Diseases, University of Tubingen, Hoppe Seyler Str 3, 72076 Tubingen, Germany
    Neurology 67:2080-2. 2006
    ..A replication study of 340 German patients and 680 controls showed no significant association between 12 genotyped polymorphisms and PD. NOS2A is therefore not a major susceptibility locus in our relatively young sample population...
  42. doi Polymorphisms in the proteasomal subunit alpha4 are not associated with Parkinson's disease
    C B Lücking
    J Neurol 255:441-2. 2008
  43. ncbi Strong genetic evidence for association of TOR1A/TOR1B with idiopathic dystonia
    C Kamm
    Department of Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research, University of Tuebingen, Hoppe Seyler Str 3, 72086 Tuebingen, Germany
    Neurology 67:1857-9. 2006
    ..000008, in a larger cohort of German and Austrian patients with predominantly focal sporadic dystonia...
  44. doi Long-term EMG recordings differentiate between parkinsonian and essential tremor
    S Breit
    Center of Neurology and Hertie Institute for Clinical Brain Research, Depatment of Neurodegeneration, University of Tubingen, Hoppe Seyler Str 3, 72076 Tubingen, Germany
    J Neurol 255:103-11. 2008
    ..We conclude that long-term EMG recording allows a rater-independent classification of parkinsonian versus essential tremor...
  45. ncbi The ubiquitin pathway in Parkinson's disease
    E Leroy
    Nature 395:451-2. 1998
  46. ncbi RLS3: fine-mapping of an autosomal dominant locus in a family with intrafamilial heterogeneity
    K M Liebetanz
    Department of Clinical Neurophysiology, Georg August University, Goettingen, Germany
    Neurology 67:320-1. 2006
    ..P values were 0.0054 for marker D9S1810 for TDT and 0.0009 for the affecteds-only linkage analysis, providing a confirmation of RLS3. This study narrows the region containing the autosomal dominant RLS3 locus to 11.1 cM (16.6 Mbp)...
  47. ncbi Possible gender-dependent association of vascular endothelial growth factor (VEGF) gene and ALS
    R Fernández-Santiago
    Department of Neurodegenerative Diseases, Hertie Institute for Brain Research, Eberhard Karls University, Tuebingen, Germany
    Neurology 66:1929-31. 2006
    ..However, the promoter SNP-1154 (rs1570360) was associated with affection status in women (p = 0.036), suggesting that the VEGF effect may be dependent on the sex ratio of the sample...
  48. ncbi The Ile93Met mutation in the ubiquitin carboxy-terminal-hydrolase-L1 gene is not observed in European cases with familial Parkinson's disease
    B S Harhangi
    Department of Epidemiology and Biostatistics, Erasmus University Medical School, Rotterdam, The Netherlands
    Neurosci Lett 270:1-4. 1999
    ..We conclude that the UCH-L1 gene is not a major gene responsible for familial PD...
  49. ncbi Association of an interleukin 1 alpha polymorphism with Alzheimer's disease
    Y Du
    Departments of Pharmacology and Toxicology, Indiana University School of Medicine, Indianapolis, 46202, USA
    Neurology 55:480-3. 2000
    ..The IL-1A(-889) allele 2 polymorphism may be associated with AD pathogenesis...
  50. pmc The sepiapterin reductase gene region reveals association in the PARK3 locus: analysis of familial and sporadic Parkinson's disease in European populations
    M Sharma
    Hertie Institute for Clinical Brain Research, Department for Neurodegenerative Diseases, University of Tubingen, Hoppe Seyler Str 3, 72076 Tubingen, Germany
    J Med Genet 43:557-62. 2006
    ..Recently, a haplotype across the sepiapterin reductase (SPR) gene, which is located in the PARK3 linkage region, was shown to modulate age of onset of Parkinson's disease in sibships from North America...
  51. ncbi [A comparison of cholinesterase inhibitors and ginkgo extract in treatment of Alzheimer dementia]
    U Schreiter Gasser
    Gerontopsychiatrisches Zentrum Hegibach,
    Fortschr Med Orig 119:135-8. 2001
    ..CONCLUSION: Until the results of direct comparative studies are available, the present results indicate a superior effect of cholinesterase inhibitors over the ginkgo extract in the treatment of mild to moderate Alzheimer's disease...
  52. ncbi Neuropathology of two members of a German-American kindred (Family C) with late onset parkinsonism
    Z K Wszolek
    Mayo Clinic Jacksonville, Department of Neurology, Jacksonville, Florida 32224, USA
    Acta Neuropathol 103:344-50. 2002
    ..Thus, the clinical and pathological findings in this family with autosomal dominant parkinsonism are similar to those of sporadic Parkinson's disease...
  53. ncbi Novel mutation in the TOR1A (DYT1) gene in atypical early onset dystonia and polymorphisms in dystonia and early onset parkinsonism
    J C Leung
    Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston 02114, USA
    Neurogenetics 3:133-43. 2001
    ..This 18-bp deletion is the first additional mutation, beyond the GAG-deletion (Glu302/303del), to be found in the TOR1A gene, and is associated with a distinct type of early onset dystonia...
  54. ncbi The parkin gene and its phenotype. Italian PD Genetics Study Group, French PD Genetics Study Group and the European Consortium on Genetic Susceptibility in Parkinson's Disease
    V Bonifati
    Department of Neurological Sciences, La Sapienza University, Rome, Italy
    Neurol Sci 22:51-2. 2001
    ..Despite clinical features, Lewy bodies are not found at autopsy in brains of patients with parkin mutations. The parkin protein possesses ubiquitin ligase activity, which is abolished by the pathogenic mutations...
  55. ncbi PARK6 is a common cause of familial parkinsonism
    E M Valente
    C S S Mendel Institute, Viale Regina Margherita 261, I 00198 Rome, Italy
    Neurol Sci 23:S117-8. 2002
    ..The determination of the smallest region of homozygosity in one consanguineous family allowed reducing the candidate interval to 9 cM. PARK6 appears to be an important locus for ARJP in Europe...
  56. pmc Origin of the mutations in the parkin gene in Europe: exon rearrangements are independent recurrent events, whereas point mutations may result from Founder effects
    M Periquet
    INSERM U289, Hopital de la Salpetriere, 75651 Paris, Cedex 13, France
    Am J Hum Genet 68:617-26. 2001
    ..Our results support the hypothesis that exon rearrangements occurred independently, whereas some point mutations, found in families from different geographic origins, may have been transmitted by a common founder...
  57. ncbi Autosomal dominant parkinsonism associated with variable synuclein and tau pathology
    Z K Wszolek
    Department of Neurology, Mayo Clinic, Jacksonville, FL 32224, USA
    Neurology 62:1619-22. 2004
    ..Genetic studies suggested linkage to the PARK8 locus on chromosome 12...
  58. ncbi Variability of familial hemiplegic migraine with novel A1A2 Na+/K+-ATPase variants
    K Jurkat-Rott
    Department of Applied Physiology, Ulm University, Germany
    Neurology 62:1857-61. 2004
    ..D718N and P979L may predispose to seizures and mental retardation. A1A2 does not play a major role in sporadic HM; only one variant, R383H, occurred in 1 of 24 cases...
  59. pmc Genome-wide scan linkage analysis for Parkinson's disease: the European genetic study of Parkinson's disease
    M Martinez
    Unité de Recherche INSERM EMI00 06, Tour Evry 2, 523 Place des Terrasses de l Agora, Evry cedex 91068, France
    J Med Genet 41:900-7. 2004
    ..To undertake a full genome-wide screen for Parkinson's disease susceptibility loci...
  60. ncbi The role of alpha-synuclein gene multiplications in early-onset Parkinson's disease and dementia with Lewy bodies
    A Hofer
    Department of Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research, University of Tubingen, Germany
    J Neural Transm 112:1249-54. 2005
    ..A triplication of the alpha-synuclein gene was found to cause autosomal dominant Lewy body disease in two distinct families...
  61. ncbi Second primary tumor in anti-Ma1/2-positive paraneoplastic limbic encephalitis
    T Leyhe
    Department of Psychiatry and Psychotherapy, University of Tubingen, Tubingen, Germany
    J Neurooncol 78:49-51. 2006
    ..Tumor search should be exhaustive and include PET when conventional imaging fails to show a malignancy...
  62. ncbi Phenotypic variation in a large Swedish pedigree due to SNCA duplication and triplication
    J Fuchs
    Hertie Institute for Clinical Brain Research, Department of Neurodegenerative Diseases, Center for Neurology, University of Tubingen, Tubingen, Germany
    Neurology 68:916-22. 2007
    ..On the basis of clinical, molecular, and genealogic findings on a Swedish and an American family branch, we provide genetic evidence that explains the parkinsonism in this extended pedigree...