M Dichgans

Summary

Affiliation: University of Munich
Country: Germany

Publications

  1. ncbi Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy: phenotypic and mutational spectrum
    Martin Dichgans
    Department of Neurology, Klinikum Grosshadern, Ludwig Maximilians Universitat, Marchioninistrasse 15, D 81377, Munich, Germany
    J Neurol Sci 203:77-80. 2002
  2. ncbi Cerebral microbleeds in CADASIL: a gradient-echo magnetic resonance imaging and autopsy study
    Martin Dichgans
    Department of NeurologyKlinikum Grosshadern, Ludwig Maximilians University, Munchen, Germany
    Stroke 33:67-71. 2002
  3. 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
  4. ncbi 1H-MRS alterations in the cerebellum of patients with familial hemiplegic migraine type 1
    M Dichgans
    Department of Neurology, Klinikum Grosshadern, Ludwig Maximilians University, Munich, Germany
    Neurology 64:608-13. 2005
  5. ncbi CADASIL: a monogenic condition causing stroke and subcortical vascular dementia
    Martin Dichgans
    Department of Neurology, Klinikum Grosshadern, Ludwig Maximilians University, Munich, Germany
    Cerebrovasc Dis 13:37-41. 2002
  6. ncbi The pattern of cognitive performance in CADASIL: a monogenic condition leading to subcortical ischemic vascular dementia
    Nils Peters
    Department of Neurology, Klinikum Grosshadern, Ludwig Maximilians University, Marchioninistrasse 15, D 81377 Munich, Germany
    Am J Psychiatry 162:2078-85. 2005
  7. ncbi Monogenic causes of stroke
    Martin Dichgans
    Neurologische Klinik, Klinikum Grosshadern, Munich, Germany
    Int Psychogeriatr 15:15-22. 2003
  8. doi Time-of-flight angiography: a viable alternative to contrast-enhanced MR angiography and fat-suppressed T1w images for the diagnosis of cervical artery dissection?
    E M Coppenrath
    Institute for Clinical Radiology, Ludwig Maximilians University Hospital Munich, Pettenkoferstr 8a, 80336, Munchen, Germany
    Eur Radiol 23:2784-92. 2013
  9. 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
  10. 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

Detail Information

Publications86

  1. ncbi Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy: phenotypic and mutational spectrum
    Martin Dichgans
    Department of Neurology, Klinikum Grosshadern, Ludwig Maximilians Universitat, Marchioninistrasse 15, D 81377, Munich, Germany
    J Neurol Sci 203:77-80. 2002
    ..This article gives a brief overview on the phenotypic spectrum of the disease and discusses some of the relevant disease mechanisms that lead from Notch3 mutations to ischemic infarcts...
  2. ncbi Cerebral microbleeds in CADASIL: a gradient-echo magnetic resonance imaging and autopsy study
    Martin Dichgans
    Department of NeurologyKlinikum Grosshadern, Ludwig Maximilians University, Munchen, Germany
    Stroke 33:67-71. 2002
    ..Our purposes were (1) to determine the frequency, extent, and pattern of MBs in CADASIL; (2) to analyze the relationship between MBs and T2-hyperintense lesions; and (3) to evaluate the histopathology of brain tissue affected by MBs...
  3. 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...
  4. ncbi 1H-MRS alterations in the cerebellum of patients with familial hemiplegic migraine type 1
    M Dichgans
    Department of Neurology, Klinikum Grosshadern, Ludwig Maximilians University, Munich, Germany
    Neurology 64:608-13. 2005
    ..Genetic studies have established an association with mutations in the CACNA1A gene. However, the mechanisms underlying cerebellar involvement are largely unknown...
  5. ncbi CADASIL: a monogenic condition causing stroke and subcortical vascular dementia
    Martin Dichgans
    Department of Neurology, Klinikum Grosshadern, Ludwig Maximilians University, Munich, Germany
    Cerebrovasc Dis 13:37-41. 2002
    ..CADASIL has opened a new perspective in studying basic mechanisms of vessel wall degeneration and ischemic tissue damage related to small vessel disease...
  6. ncbi The pattern of cognitive performance in CADASIL: a monogenic condition leading to subcortical ischemic vascular dementia
    Nils Peters
    Department of Neurology, Klinikum Grosshadern, Ludwig Maximilians University, Marchioninistrasse 15, D 81377 Munich, Germany
    Am J Psychiatry 162:2078-85. 2005
    ..Mutation carriers almost invariably develop cognitive deficits and eventually dementia. The current study describes the profile of cognitive abnormalities in CADASIL subjects...
  7. ncbi Monogenic causes of stroke
    Martin Dichgans
    Neurologische Klinik, Klinikum Grosshadern, Munich, Germany
    Int Psychogeriatr 15:15-22. 2003
    ....
  8. doi Time-of-flight angiography: a viable alternative to contrast-enhanced MR angiography and fat-suppressed T1w images for the diagnosis of cervical artery dissection?
    E M Coppenrath
    Institute for Clinical Radiology, Ludwig Maximilians University Hospital Munich, Pettenkoferstr 8a, 80336, Munchen, Germany
    Eur Radiol 23:2784-92. 2013
    ....
  9. 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
    ....
  10. 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...
  11. pmc A randomized trial of 4-aminopyridine in EA2 and related familial episodic ataxias
    M Strupp
    Department of Neurology, Friedrich Baur Institute and IFB LMU, University of Munich, Campus Grosshadern, Marchioninistr 15, 81377 Munich, Germany
    Neurology 77:269-75. 2011
    ..The therapeutic effects of 4-aminopyridine (4AP) were investigated in a randomized, double-blind, crossover trial in 10 subjects with familial episodic ataxia with nystagmus...
  12. doi A novel mutation in CACNA1A associated with hemiplegic migraine, cerebellar dysfunction and late-onset cognitive decline
    T Freilinger
    Department of Neurology, Klinikum Groshadern, Ludwig Maximilians Universitat, Munich, Germany
    J Neurol Sci 300:160-3. 2011
    ..This suggests a possible causal link between cerebellar and cognitive disturbances in this patient; in addition to these pathophysiological aspects, we review of the role of the cerebellum in cognition...
  13. 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...
  14. ncbi Brain volume changes in CADASIL: a serial MRI study in pure subcortical ischemic vascular disease
    N Peters
    Department of Neurology, Klinikum Grosshadern, Ludwig Maximilians University, Munich, Germany
    Neurology 66:1517-22. 2006
    ..However, little is known about the role of brain atrophy and its clinical correlates in CADASIL...
  15. doi Expansion of the phenotypic spectrum of the CACNA1A T666M mutation: a family with familial hemiplegic migraine type 1, cerebellar atrophy and mental retardation
    T Freilinger
    Department of Neurology, Ludwig Maximilians Universitat Munchen, Klinikum Grosshadern, Munich, Germany
    Cephalalgia 28:403-7. 2008
  16. doi Internal carotid artery dissection and ischemic cerebral infarction in the setting of essential thrombocythemia
    T Freilinger
    Department of Neurology, Ludwig Maximilians Universitat, Klinikum Groshadern, Munich, Germany
    Clin Appl Thromb Hemost 17:E138-40. 2011
    ..In particular, we speculate that ET may increase the susceptibility of cervical vessels to spontaneous dissection, for example, by disturbing the microcirculation within the vessel wall...
  17. doi Noncontrast CT in deep cerebral venous thrombosis and sinus thrombosis: comparison of its diagnostic value for both entities
    J Linn
    Department of Neuroradiology, University Hospital Munich, Munich, Germany
    AJNR Am J Neuroradiol 30:728-35. 2009
    ..Because noncontrast cranial CT (NCCT) is still the imaging technique of choice in most emergency departments, we aimed to investigate its value in the diagnosis of SVT and DVT...
  18. pmc Prevalence of superficial siderosis in patients with cerebral amyloid angiopathy
    J Linn
    Department of Neuroradiology, University Hospital Munich, Marchioninistrasse 15, 81377 Munich, Germany
    Neurology 74:1346-50. 2010
    ..We aimed to assess the value of SS for the in vivo diagnosis of CAA, and tested whether the inclusion of SS as a criterion alters the sensitivity and specificity of the Boston criteria for CAA-related hemorrhage...
  19. ncbi Altered white and gray matter metabolism in CADASIL: a proton MR spectroscopy and 1H-MRSI study
    D P Auer
    Max Planck Institut fur Psychiatrie, AG NMR, Munich, Germany
    Neurology 56:635-42. 2001
    ..To further characterize the cerebral pathology in vivo we analyzed metabolite concentrations in normal and abnormal appearing brain tissue using single and multiple voxel proton MR spectroscopy (1H-MRS and 1H-MRSI)...
  20. ncbi [Susac syndrome: case reports and review of the literature]
    I W Reiniger
    Augenklinik, Klinikum der Universitat Munchen
    Klin Monbl Augenheilkd 223:161-7. 2006
    ..Susac syndrome is a rare disease of unknown pathogenesis. It consists of retinal arterial occlusion, hearing loss and encephalopathy (triad)...
  21. ncbi [Genetics of migraine]
    T Freilinger
    Neurologische Klinik und Poliklinik, Klinikum Grosshadern der Ludwig Maximilians Universität München, Marchioninistrasse 23, 81377, Munchen
    Nervenarzt 77:1186, 1188-95. 2006
    ..We further discuss the roles of CACNA1A, ATP1A2, and SCN1A in the pathophysiology of cortical spreading depression, which is the likely correlate of migraine aura...
  22. doi [Vascular dementia]
    N Peters
    Neurologische Klinik und Poliklinik, Klinikum Groshadern, Ludwig Maximilians Universitat Munchen, Marchioninistrase 15, 81377, Munchen, Deutschland
    Nervenarzt 81:1245-53; quiz 1254-5. 2010
    ..Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), a genetic variant of SIVD, represents an important differential diagnosis and may serve as a model of SIVD...
  23. doi [Heart-brain interaction in intensive care medicine]
    K Jahn
    Neurologische Klinik und Poliklinik, Klinikum der Universitat Munchen
    Dtsch Med Wochenschr 135:2347-52. 2010
    ..For future studies on treatment of neurogenic-cardial disorders, the classification of the differently defined disorders based on their common pathophysiology will be essential...
  24. ncbi [Diagnosis and therapy of basilar artery occlusion]
    T Pfefferkorn
    Neurologische Klinik, Klinikum Grosshadern, Ludwigs Maximilians Universität München
    Nervenarzt 77:416-22. 2006
    ..This review focuses on current developments in the diagnosis and treatment of acute basilar artery occlusion...
  25. ncbi Familial hemiplegic migraine with cerebellar ataxia and paroxysmal psychosis
    M Spranger
    Department of Neurology, University of Heidelberg, Germany
    Eur Neurol 41:150-2. 1999
    ....
  26. ncbi Subarachnoid hemosiderosis and superficial cortical hemosiderosis in cerebral amyloid angiopathy
    J Linn
    Department of Neuroradiology, University of Munich, Munich, Germany
    AJNR Am J Neuroradiol 29:184-6. 2008
    ..Thus, we propose that these 2 findings might be valuable as noninvasive diagnostic markers for CAA...
  27. ncbi Opening of the blood-brain barrier preceding cortical edema in a severe attack of FHM type II
    J P Dreier
    Department of Neurology, Charite University Medicine, 10117 Berlin, Germany
    Neurology 64:2145-7. 2005
    ..The findings suggest that the delayed cortical edema was vasogenic in the severe migraine aura variant of this ATP1A2 mutation carrier...
  28. 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
    ....
  29. pmc High-resolution black-blood contrast-enhanced T1 weighted images for the diagnosis and follow-up of intracranial arteritis
    T Saam
    Department of Clinical Radiology, University of Munich, Grosshadern Campus, Munich, Germany
    Br J Radiol 83:e182-4. 2010
    ..Therefore, brain biopsies are often needed to confirm the diagnosis. Recent reports have shown that MRI is able to visualise contrast enhancement in subjects with known primary CNS arteritis...
  30. doi [Vasculitis and hereditary small vessel diseases]
    C Opherk
    Institut für Schlaganfall und Demenzforschung, Neurologische Klinik und Poliklinik, Ludwig Maximilians Universitat, Marchioninistrasse 15, 81377, Munchen, Deutschland
    Internist (Berl) 50:1200-9. 2009
    ..Their diagnosis which is based on family history, typical clinical features and genetic analysis often has implications for treatment and genetic counselling...
  31. ncbi Treatment of episodic ataxia type 2 with the potassium channel blocker 4-aminopyridine
    M Strupp
    Department of Neurology, University of Munich, Germany
    Neurology 62:1623-5. 2004
    ..Attacks recurred after treatment was stopped; subsequent treatment alleviated the symptoms (mean follow-up time 6 months). These effects might be due to an improvement of the impaired functioning of Purkinje cells...
  32. 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...
  33. ncbi Retinal vascular abnormalities in CADASIL
    C Haritoglou
    Department of Ophthalmology, Ludwig Maximilians University, Munich, Germany
    Neurology 62:1202-5. 2004
    ..Findings included bilateral peripapillary arteriolar sheathing (30%), arteriolar narrowing (80%), and arteriovenous nicking (90%). No retinal infarcts, vascular occlusions, exudation, or hypoperfusion of affected vessels were found...
  34. ncbi Successful bilateral pallidal stimulation for Meige syndrome and spasmodic torticollis
    C Opherk
    Department of Neurology, Klinikum Grosshadern Marchioninistr 15, D 81377 Munich, Germany
    Neurology 66:E14. 2006
  35. 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...
  36. 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...
  37. pmc Effects of aspirin plus extended-release dipyridamole versus clopidogrel and telmisartan on disability and cognitive function after recurrent stroke in patients with ischaemic stroke in the Prevention Regimen for Effectively Avoiding Second Strokes (PRoFE
    Hans Christoph Diener
    Department of Neurology, University of Duisburg Essen, Essen, Germany
    Lancet Neurol 7:875-84. 2008
    ..The putative neuroprotective effects of antiplatelet compounds and the angiotensin II receptor antagonist telmisartan were investigated in the Prevention Regimen for Effectively Avoiding Second Strokes (PRoFESS) trial...
  38. pmc Genomic sequences of aldolase C (Zebrin II) direct lacZ expression exclusively in non-neuronal cells of transgenic mice
    E U Walther
    Neurologische Klinik, Marchioninstrasse 15, 81377 Munich, Germany
    Proc Natl Acad Sci U S A 95:2615-20. 1998
    ..The absence of Purkinje cell staining suggests that the cis elements required for this expression must be located outside of the sequences used in this study...
  39. ncbi Ischemic stroke and peripheral arterial thromboembolism in a patient with Crohn's disease: a case presentation
    Tobias Freilinger
    Department of Neurology, Klinikum Grosshadern, Ludwig Maximilians University, Marchioninistr 15, 81377 Munich, Germany
    J Neurol Sci 266:177-9. 2008
    ..A pathophysiological model explaining this cooccurrence as well as the significance of prothrombotic risk factors ("hypercoaguable state") in the setting of inflammatory bowel disease and stroke are discussed...
  40. ncbi Vascular integrin immunoreactivity is selectively lost on capillaries during rat focal cerebral ischemia and reperfusion
    Dorothe Burggraf
    Department of Neurology, Ludwig Maximilians University, Klinikum Grosshadern, Marchioninistr 15, 81377 Munich, Germany
    Brain Res 1189:189-97. 2008
    ..The prominent capillary vulnerability contributes significantly to the impairment of the microvascular integrity and after ischemia and reperfusion...
  41. ncbi rt-PA causes a dose-dependent increase in the extravasation of cellular and non-cellular blood elements after focal cerebral ischemia
    Dorothe Burggraf
    Department of Neurology, Ludwig Maximilians University, Klinikum Grosshadern, Marchioninistr 15, 81377 Munich, Germany
    Brain Res 1164:55-62. 2007
    ..Despite various benefits, rt-PA is responsible for a dose-dependent increase of edema and hemorrhage after cerebral ischemia. Clinicians should consider using the lowest effective dose of rt-PA in stroke patients...
  42. ncbi Admission facility is associated with outcome of basilar artery occlusion
    Robert Muller
    Department of Neurology, Klinikum Harlaching, Städtisches Klinikum München GmbH, Munich, Germany
    Stroke 38:1380-3. 2007
    ..We investigated whether initial admission to telemedically linked general hospitals with subsequent stroke-center transfer is related to poorer outcome than direct admission to stroke centers...
  43. ncbi Effects of short term atorvastatin treatment on cerebral hemodynamics in CADASIL
    Nils Peters
    Department of Neurology, Klinikum Grosshadern, Ludwig Maximilians University, Marchioninistrasse 15, D 81377 Munich, Germany
    J Neurol Sci 260:100-5. 2007
    ..CADASIL is a monogenic form of SVD caused by mutations in the Notch3 gene. Treatment options are limited and little is known about the therapeutic role of statins in CADASIL...
  44. doi Diagnostic criteria of vascular dementia in CADASIL
    Sarah Benisty
    Department of Geriatric Medicine, University Paris 7, 2 rue Ambroise Pare, 75010 Paris, France
    Stroke 39:838-44. 2008
    ..Application of these criteria in CADASIL, a genetic model of SIVD, may help to better assess their significance. The aim of this study was to compare different sets of diagnostic criteria of VaD in a population of CADASIL patients...
  45. doi Donepezil in patients with subcortical vascular cognitive impairment: a randomised double-blind trial in CADASIL
    Martin Dichgans
    Department of Neurology, Grosshadern Clinic, Ludwig Maximilian University, Munich, Germany
    Lancet Neurol 7:310-8. 2008
    ..We did a multicentre, 18-week, placebo-controlled, double-blind, randomised parallel-group trial to determine whether the cholinesterase inhibitor donepezil improves cognition in patients with CADASIL...
  46. doi Staged escalation therapy in acute basilar artery occlusion: intravenous thrombolysis and on-demand consecutive endovascular mechanical thrombectomy: preliminary experience in 16 patients
    Thomas Pfefferkorn
    Klinikum Grosshadern, Department of Neurology, University of Munich, Marchioninistrasse 15, 81377 Munich, Germany
    Stroke 39:1496-500. 2008
    ..The combination of IVT with consecutive on-demand EMT may allow for early treatment initiation with high recanalization rates but has never been systematically tested in patients with BAO...
  47. doi Genetic variation in soluble epoxide hydrolase (EPHX2) is associated with an increased risk of ischemic stroke in white Europeans
    Andreas Gschwendtner
    Stroke 39:1593-6. 2008
    ..Genetic variation in the EPHX2 gene region has been reported to influence susceptibility to ischemic stroke in blacks. We assessed the role of this gene region in white Europeans and performed analyses with regard to stroke subtypes...
  48. doi Genetic variation in members of the leukotriene biosynthesis pathway confer an increased risk of ischemic stroke: a replication study in two independent populations
    Steve Bevan
    Centre for Clinical Neuroscience, St Georges University of London, Cranmer Terrace, Tooting, London, SW17 0RE, UK
    Stroke 39:1109-14. 2008
    ..Using a case control replication methodology, all members of the leukotriene synthesis pathway and their receptors were examined for genetic variants, which may act as risk factors for all ischemic stroke and stroke subtypes...
  49. doi Variation in the PDE4D gene and ischemic stroke risk: a systematic review and meta-analysis on 5200 cases and 6600 controls
    Steve Bevan
    Centre for Clinical Neuroscience, St George s, University of London, Cranmer Terrace, Tooting, London, SW17 0RE, UK
    Stroke 39:1966-71. 2008
    ..Meta-analysis provides a method to combine this data and determine in a larger sample size whether the association with PDE4D can be replicated...
  50. doi Cortical changes in cerebral small vessel diseases: a 3D MRI study of cortical morphology in CADASIL
    Eric Jouvent
    Department of Neurology, INSERM UMR 740 and Université Paris VII, France
    Brain 131:2201-8. 2008
    ..These results suggest that the examination of cortical morphology may be of high clinical relevance in SVDB...
  51. pmc Divergent sodium channel defects in familial hemiplegic migraine
    Kristopher M Kahlig
    Departments of Medicine and Pharmacology, Vanderbilt University, Nashville, TN 37240, USA
    Proc Natl Acad Sci U S A 105:9799-804. 2008
    ..1 defects can cause FHM3. Our results also emphasize the complex relationship between migraine and epilepsy and provide further evidence that both disorders may share common molecular mechanisms...
  52. ncbi Prolonged cerebral transit time in CADASIL: a transcranial ultrasound study
    Martin Liebetrau
    Department of Neurology, Klinikum Grosshadern, Ludwig Maximilians University, Munchen, Germany
    Stroke 33:509-12. 2002
    ..In this study, we measured the arteriovenous cerebral transit time (CTT) to identify changes related to the microangiopathy in CADASIL...
  53. ncbi Update on the genetics of stroke and cerebrovascular disease 2006
    Martin Dichgans
    Neurologische Klinik, Klinikum Grosshadern, Ludwig Maximilians Universitat, Marchioninistrasse 15, Munchen, Germany D 81377
    Stroke 38:216-8. 2007
  54. ncbi Mutation in the neuronal voltage-gated sodium channel SCN1A in familial hemiplegic migraine
    Martin Dichgans
    Department of Neurology, Klinikum Grosshadern, Ludwig Maximilians Universitat, 81377 Munchen, Germany
    Lancet 366:371-7. 2005
    ..So far, mutations in two genes regulating ion translocation-CACNA1A and ATP1A2-have been identified in pedigrees with this disease...
  55. ncbi CADASIL presenting with a movement disorder: a clinical study of a Chilean kindred
    Marcelo Miranda
    Department of Neurology, Nuclear Medicine and Dermatology, Clinica Las Condes and Universidad de Chile, Santiago, Chile
    Mov Disord 21:1008-12. 2006
    ..Our report emphasizes that CADASIL must be considered in the study of patients with secondary dystonia...
  56. ncbi CADASIL-associated Notch3 mutations have differential effects both on ligand binding and ligand-induced Notch3 receptor signaling through RBP-Jk
    Nils Peters
    Department of Neurology, Klinikum Grosshadern, Ludwig Maximilians University, Munich, Germany
    Exp Cell Res 299:454-64. 2004
    ..Moreover, the data suggest that ligand-induced receptor shedding may not be required for N3ECD deposition in CADASIL...
  57. ncbi Diffusion magnetic resonance histograms as a surrogate marker and predictor of disease progression in CADASIL: a two-year follow-up study
    Markus Holtmannspotter
    Abteilung fur Neuroradiologie, Klinikum Grosshadern, Ludwig Maximilians Universitat, Munich, Germany
    Stroke 36:2559-65. 2005
    ..In this study, we assessed the role of quantitative MRI (T2-lesion volume and diffusion tensor imaging [DTI]-derived metrics) in monitoring and predicting disease progression...
  58. 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...
  59. ncbi Long-term prognosis and causes of death in CADASIL: a retrospective study in 411 patients
    Christian Opherk
    Department of Neurology, Klinikum Grosshadern, Ludwig Maximilians University, Munich, Germany
    Brain 127:2533-9. 2004
    ..Our findings suggest possible genotype-phenotype correlations with regard to disease progression. The data presented may serve as source material for counselling CADASIL patients and for designing future interventional trials...
  60. ncbi Genetic association studies in stroke: methodological issues and proposed standard criteria
    Martin Dichgans
    Department of Neurology, Klinikum Grosshadern, Munich, Germany
    Stroke 36:2027-31. 2005
    ..A large number of candidate gene association studies have attempted to identify genes implicated in stroke, but there have been few replicable and robust associations reported...
  61. ncbi ALOX5AP gene and the PDE4D gene in a central European population of stroke patients
    Elin Lõhmussaar
    Institutes of Human Genetics, GSF National Research Institute for Environment and Health, Neuherberg, Germany
    Stroke 36:731-6. 2005
    ..The aim of the present study was to explore the role of these genes in a central European population of stroke patients...
  62. ncbi Subarachnoid hemorrhage and diplopia as initial presentation of polycythemia vera
    Christian Opherk
    Department of Neurology, Ludwig Maximilians University, Munich, Germany
    Cerebrovasc Dis 19:279-80. 2005
  63. ncbi Genetics of ischaemic stroke
    Martin Dichgans
    Department of Neurology, Neurologische Klinik, Klinikum Grosshadern, Ludwig Maximilians University, D 81377 Munchen, Germany
    Lancet Neurol 6:149-61. 2007
    ..This approach will contribute to the identification of additional genes, novel pathways, and eventually novel therapeutic approaches to ischaemic stroke...
  64. ncbi Pravastatin reduces microvascular basal lamina damage following focal cerebral ischemia and reperfusion
    Andreas Trinkl
    Department of Neurology, Experimental Stroke Research, Ludwig Maximillians University, Munich, Klinikum Grosshadern, Marchioninistr 15, D 81377 Munich, Germany
    Eur J Neurosci 24:520-6. 2006
    ..553 +/- 47%, P < 0.01). Pravastatin pretreatment resulted in a reduction of microvascular basal lamina damage and hemoglobin extravasation following transient ischemia. Pravastatin seems to protect the cerebral microvascular system...
  65. ncbi Histopathological abnormalities in ocular blood vessels of CADASIL patients
    Christos Haritoglou
    Department of Ophthalmology, Ludwig Maximilians University, Munich, Germany
    Am J Ophthalmol 138:302-5. 2004
    ..To assess histopathological findings in patients with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL)...
  66. ncbi A new cause of hereditary small vessel disease: angiopathy of retina and brain
    Martin Dichgans
    Neurology 60:8-9. 2003
  67. ncbi Cortical hypometabolism and crossed cerebellar diaschisis suggest subcortically induced disconnection in CADASIL: an 18F-FDG PET study
    Klaus Tatsch
    Department of Nuclear Medicine, Klinikum Grosshadern, Ludwig Maximilians University Munich, Munich, Germany
    J Nucl Med 44:862-9. 2003
    ..The purpose of this study was to evaluate with (18)F-FDG PET whether regional cerebral metabolic rate of glucose (rCMRglc) is altered in CADASIL patients and, if so, whether there is evidence of subcortically induced disconnection...
  68. ncbi Role of subvoxel free fluid on diffusion parameters in brain tissue with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy and its correlation with physical disability: histogram analysis of standard and fluid-atte
    Martin Dichgans
    Department of Neurology, Klinikum Grosshadern, Ludwig Maximilians Universitat, AG NMR, D 80804 Munich, Germany
    AJNR Am J Neuroradiol 24:1083-9. 2003
    ....
  69. ncbi Thrombolysis of basilar artery occlusion--intra-arterial or intravenous: is there really no difference?
    Gernot Schulte-Altedorneburg
    Stroke 38:9; author reply 10-11. 2007
  70. ncbi A two-year clinical follow-up study in 80 CADASIL subjects: progression patterns and implications for clinical trials
    Nils Peters
    Department of Neurology, Klinikum Grosshadern, Ludwig Maximilians University, Munich, Germany
    Stroke 35:1603-8. 2004
    ..The aim of this study was to explore the patterns of clinical progression in CADASIL, to check for prognostic variables, and to provide sample size estimates for future therapeutic trials...
  71. ncbi National Institute of Neurological Disorders and Stroke-Canadian Stroke Network vascular cognitive impairment harmonization standards
    Vladimir Hachinski
    London Health Sciences Centre, University Campus, London, Ontario, Canada
    Stroke 37:2220-41. 2006
    ....
  72. ncbi Blood pressure and haemoglobin A1c are associated with microhaemorrhage in CADASIL: a two-centre cohort study
    Anand Viswanathan
    Department of Neurology, CHU Lariboisière, Assistance Publique des Hopitaux de Paris, Paris, France
    Brain 129:2375-83. 2006
    ..These lesions have a potential clinical impact in CADASIL. These findings further suggest that modulation of blood pressure and glucose levels might influence the course of the disease...
  73. ncbi Spectrum of mutations in biopsy-proven CADASIL: implications for diagnostic strategies
    Nils Peters
    Department of Neurology, Neurogenetics Laboratory, Klinikum Grosshadern, Ludwig Maximilians University, Munich, Germany
    Arch Neurol 62:1091-4. 2005
    ..Mutations are typically located within epidermal growth factor-like repeat domains in the extracellular part of the Notch3 receptor. Identification of the mutation is critical for genetic counseling and testing of relatives at risk...
  74. ncbi Blurring of the vessels of the interhemispheric fissure in multislice CT angiography: a sign of meningeal carcinomatosis
    Birgit B Ertl-Wagner
    Klinikum Grosshadern, Institute of Clinical Radiology, University of Munich, Marchioninistr 15, 81377 Munich, Germany
    Eur Radiol 14:673-8. 2004
    ..This sign may serve as an indicator of meningeal carcinomatosis and should raise the suspicion of this disease entity...
  75. ncbi Matrix metalloproteinase induction by EMMPRIN in experimental focal cerebral ischemia
    Dorothe Burggraf
    Department of Neurology, Ludwig Maximilians University, Klinikum Grosshadern, Marchioninistr 15, 81377 Munich, Germany
    Eur J Neurosci 22:273-7. 2005
    ..These results raise the possibility that the increased expression of EMMPRIN, the increase in MMPs and the damage of the basal lamina following cerebral ischemia are connected and part of a network of related changes...
  76. ncbi Doxycycline inhibits MMPs via modulation of plasminogen activators in focal cerebral ischemia
    Dorothe Burggraf
    Department of Neurology, Ludwig Maximilians University, Klinikum Grosshadern, Marchioninistr 15, 81377 Munich, Germany
    Neurobiol Dis 25:506-13. 2007
    ..Hemoglobin extravasation was also significantly reduced. Our results suggest that doxycycline may have a potential use as an anti-ischemic compound since it provides microvascular protection by inhibiting the plasminogen system...
  77. ncbi The novel p.L1649Q mutation in the SCN1A epilepsy gene is associated with familial hemiplegic migraine: genetic and functional studies. Mutation in brief #957. Online
    Kaate R J Vanmolkot
    Department of Human Genetics, Leiden University Medical Centre, Leiden, The Netherlands
    Hum Mutat 28:522. 2007
    ..Our findings establish the role of neuronal Na(v)1.1 sodium channels in FHM and reinforce the involvement of ion channel dysfunction in the pathogenesis of this episodic brain disorder...
  78. ncbi Brain atrophy is related to lacunar lesions and tissue microstructural changes in CADASIL
    Eric Jouvent
    Department of Neurology, CHU Lariboisière, Assistance Publique des Hopitaux de Paris, and Université Paris VII, Paris, France
    Stroke 38:1786-90. 2007
    ..The contribution of subcortical cerebral lesions in this process remains undetermined. The aim of this study was to investigate the relationships between cerebral volume and different types of subcortical MRI lesions in CADASIL...
  79. ncbi Heritability of MRI lesion volume in CADASIL: evidence for genetic modifiers
    Christian Opherk
    Neurologische Klinik, Klinikum Grosshadern, Ludwig Maximilians University, Marchioninistrasse 15, D 81377 Munchen, Germany
    Stroke 37:2684-9. 2006
    ..However, little is known about the factors that underlie this variability. We sought to quantify the contribution of modifying genetic effects to individual differences in the volume of cerebral ischemic lesions...
  80. ncbi C-terminal truncations in human 3'-5' DNA exonuclease TREX1 cause autosomal dominant retinal vasculopathy with cerebral leukodystrophy
    Anna Richards
    Department of Medicine, Division of Rheumatology, Washington University School of Medicine, St Louis, Missouri 63110, USA
    Nat Genet 39:1068-70. 2007
    ..These data have implications for the maintenance of vascular integrity in the degenerative cerebral microangiopathies leading to stroke and dementias...
  81. ncbi Matrix metalloproteinase (MMP) induction and inhibition at different doses of recombinant tissue plasminogen activator following experimental stroke
    Dorothe Burggraf
    Department of Neurology, Ludwig Maximilians University, Klinikum Grosshadern, Munich, Germany
    Thromb Haemost 98:963-9. 2007
    ..This strongly supports use of the lowest effective dosage of rt-PA available...
  82. ncbi Familial carpal tunnel syndrome: further evidence for a genetic contribution
    Matthias Elstner
    Clin Genet 69:179-82. 2006
  83. ncbi Rare missense variants in ATP1A2 in families with clustering of common forms of migraine
    Unda Todt
    Institut fur Humangenetik, Universitatsklinikum Bonn, Bonn, Germany
    Hum Mutat 26:315-21. 2005
    ....
  84. ncbi A new approach to reduce the number of animals used in experimental focal cerebral ischemia models
    Dorothe Burggraf
    Department of Neurology, Ludwig Maximilians University, Klinikum Grosshadern, Marchioninistr 15, 81377 Munich, Germany
    Neurosci Lett 386:88-93. 2005
    ..Thus, this method increases the validity of data comparisons and reduces significantly the number of animals needed in various experimental settings...
  85. doi Influence of SORL1 gene variants: association with CSF amyloid-beta products in probable Alzheimer's disease
    Heike Kolsch
    Department of Psychiatry, University of Bonn, Bonn, Germany
    Neurosci Lett 440:68-71. 2008
    ..15). We found a SORL1 haplotype which was associated with CSF levels of amyloid-beta cleavage products, measured as altered levels of Abeta42. Thus our data suggest that SORL1 gene variants might influence AD pathology...
  86. 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...