• W. Paulus


Systematrophien sind hereditäre oder sporadische, progressive, degenerative Prozesse, die schwerpunktmäßig ein neuronales System betreffen (wie z.B. bei der amyotrophen Lateralsklerose das erste und zweite motorische Neuron, bei der Parkinson-Krankheit das nigrostriatale Neuron). Das retrograde oder anterograde (transneuronale) Übergreifen auf das funktionell gekoppelte folgende bzw. vorausgehende Neuron ist häufig, die Beteiligung weiterer neuronaler Systeme die Regel (Tabelle 13.1).


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  1. Albin R L, Young A B, Penney J B (1989) The functional anatomy of basal ganglia disorders. Trends Neurosci 12: 366–375PubMedCrossRefGoogle Scholar
  2. Braak H, Braak E (1992) Allocortical involvement in Huntington’s disease. Neuropathol Appl Neurobiol 18: 539–547PubMedCrossRefGoogle Scholar
  3. Brooks BR (1994) El Escorial World Federation of Neurology criteria for the diagnosis of amyotrophic lateral sclerosis. Subcommittee on Motor Neuron Diseases/Amyotrophic Lateral Sclerosis of the World Federation of Neurology Research Group on Neuromuscular Diseases and the El Escorial „Clinical limits of amyotrophic lateral sclerosis“ workshop contributors. J Neurol Sci 124 (Suppl): 96–107PubMedCrossRefGoogle Scholar
  4. Bugiani O, Murreil J R, Giaccone G etal. (1999) Frontotemporal dementia and corticobasal degeneration in a family with a P301 S mutation in tau. J Neuropathol Exp Neurol 58: 667–677PubMedCrossRefGoogle Scholar
  5. Calne D B (ed) (1993) Neurodegenerative diseases. Saunders, LondonGoogle Scholar
  6. Cardoso F, Vargas A P, Oliveira L D, Guerra A A, Amaral S V (1999) Persistent Sydenham’s chorea. Mov Disord 14: 805–807PubMedCrossRefGoogle Scholar
  7. Cervós-Navarro J, Urich H (1995) Metabolic and degenerative diseases of the central nervous system. Pathology, biochemistry, and genetics. Academic Press, San DiegoGoogle Scholar
  8. Cordato N J, Halliday G M, Harding A J, Hely M A, Morris J G (2000) Regional brain atrophy in progressive supranuclear palsy and Lewy body disease. Ann Neurol 47: 718–728PubMedCrossRefGoogle Scholar
  9. Dale G E, Probst A, Luthert P etal. (1992) Relationship between Lewy bodies and pale bodies in Parkinson’s disease. Acta Neuropathol 83: 525–529PubMedCrossRefGoogle Scholar
  10. Dickson D W (1999 a) Symposium: tau and synuclein in neuropathology. Brain Pathol 9: 657–739Google Scholar
  11. Dickson D W (1999 b) Neuropathologic differentiation of progressive supranuclear palsy and corticobasal degeneration. J Neurol 246 Suppl 2: 6–15Google Scholar
  12. Dickson D W, Wertkin A, Kress Y, Ksiezak-Reding H, Yen S H (1990) Ubiquitin immunoreactive structures in normal human brains. Distribution and developmental aspects. Lab Invest 63: 87–99PubMedGoogle Scholar
  13. Dickson D W, Liu W, Hardy J etal. (1999) Widespread alterations of alpha-synuclein in multiple system atrophy. Am J Pathol 155: 1241–1251PubMedCrossRefGoogle Scholar
  14. Fischbeck K H, Lieberman A, Bailey C K, Abel A, Merry D E (1999) Androgen receptor mutation in Kennedy’s disease. Philos Trans R Soc Lond B Biol Sci 354: 1075–1078PubMedCrossRefGoogle Scholar
  15. Forno L S, Langston J W, DeLanney L E, Irwin I (1988) An electron microscopic study of MPTP-induced inclusion bodies in an old monkey. Brain Res 448: 150–157PubMedCrossRefGoogle Scholar
  16. Geddes J F, Hughes A J, Lees A J, Daniel S E (1993) Pathological overlap in cases of parkinsonism associated with neurofibrillary tangles. A study of recent cases of postencephalitic parkinsonism and comparison with progressive supranuclear palsy and Guamanian parkinsonism-dementia complex. Brain 116: 281–302PubMedCrossRefGoogle Scholar
  17. Gendron N H, MacKenzie A E (1999) Spinal muscular atrophy: molecular pathophysiology. Curr Opin Neurol 12: 137–142PubMedCrossRefGoogle Scholar
  18. Genis D, Davalos A, Molins A, Ferrer I (1997) Wolfram syndrome: a neuropathological study. Acta Neuropathol 93: 426–429PubMedCrossRefGoogle Scholar
  19. Gibb W R G (1989) Neuropathology in movement disorders. J Neurol Neurosurg Psychiatry Suppl 54: 55–67CrossRefGoogle Scholar
  20. Gibb W R G, Lees A (1989) The significance of the Lewy body in the diagnosis of idiopathic Parkinson’s disease. Neuropathol Appl Neurobiol 15: 27–44PubMedCrossRefGoogle Scholar
  21. Gutekunst C A, Li S H, Yi H etal. (1999) Nuclear and neuropil aggregates in Huntington’s disease: relationship to neuropathology. J Neurosci 19: 2522–2534PubMedGoogle Scholar
  22. Hardie R J, Pullon H W H, Harding A E etal. (1991) Neuro-acanthocytosis. A clinical, haematological and pathological study of 19 cases. Brain 114: 13–49PubMedGoogle Scholar
  23. Hayashi Y, Kakita A, Yamada M etal. (1998) Hereditary dentatorubral-pallidoluysian atrophy: detection of widespread ubiquitinated neuronal and glial intranuclear inclusions in the brain. Acta Neuropathol 96: 547–552PubMedCrossRefGoogle Scholar
  24. Hedreen J C, Peyser C E, Folstein S E, Ross C A (1991) Neuronal loss in layers V and VI of cerebral cortex in Huntington’s disease. Neurosci Lett 133: 257–261PubMedCrossRefGoogle Scholar
  25. Higgins J J, Adler R L, Loveless J M (1999) Mutational analysis of the tau gene in progressive supranuclear palsy. Neurology 53: 1421–1424PubMedGoogle Scholar
  26. Hsu L J, Sagara Y, Arroyo A etal. (2000) α-synuclein promotes mitochondrial deficit and oxidative stress. Am J Pathol 157: 401–410Google Scholar
  27. Ince P G, Lowe J, Shaw P J (1998) Amyotrophic lateral sclerosis: current issues in classification, pathogenesis and molecular pathology. Neuropathol Appl Neurobiol 24: 104–117PubMedCrossRefGoogle Scholar
  28. Ishizawa K, Lin W L, Tiseo P, Honer W G, Davies P, Dickson D W (2000) A qualitative and quantitative study of grumose degeneration in progressive supranuclear palsy. J Neuropathol Exp Neurol 59: 513–524PubMedGoogle Scholar
  29. Jackson M, Lennox G, Lowe J (1996) Motor neurone disease-inclusion dementia. Neurodegeneration 5: 339–350PubMedCrossRefGoogle Scholar
  30. Jellinger K (1986) Pallidal, pallidonigral and pallidoluysioni- gral degenerations including association with thalamic and dentate degenerations. In: Vinken PJ, Bruyn GW, Klawans HL (eds) Handbook of Clinical Neurology, vol 5. Elsevier, Amsterdam, pp 445–463Google Scholar
  31. Jellinger K (1998) Neuropathology of movement disorders. Neurosurg Clin North Am 9: 237–262Google Scholar
  32. Jellinger K (1999) Post mortem studies in Parkinson’s disease: is it possible to detect brain areas for specific symptoms? J Neural Transm Suppl 56: 1–29PubMedGoogle Scholar
  33. Joseph, AB, Young, RR (Hrsg) (1999) Movement disorders in neurology and neuropsychiatry, 2nd edn. Blackwell, OxfordGoogle Scholar
  34. Kanazawa I (1999) Molecular pathology of dentatorubral-pallidoluysian atrophy. Philos Trans R Soc Lond B Biol Sci 354: 1069–1074PubMedCrossRefGoogle Scholar
  35. Kato S, Hirano A (1990) Ubiquitin and phosphorylated neurofilament epitopes in ballooned neurons of the extraocular muscle nuclei in a case of Werdnig-Hoffmann disease. Acta Neuropathol 80: 334–337PubMedCrossRefGoogle Scholar
  36. Kitada T, Asakawa S, Matsumine H etal. (2000) Progress in the clinical and molecular genetics of familial parkinsonism. Neurogenet 2: 207–218CrossRefGoogle Scholar
  37. Koeppen A H (1998) The hereditary ataxias. J Neuropathol Exp Neurol 57: 531–543PubMedCrossRefGoogle Scholar
  38. Komori T (1999) Tau-positive glial inclusions in progressive supranuclear palsy, corticobasal degeneration and Pick’s disease. Brain Pathol 9: 663–679PubMedCrossRefGoogle Scholar
  39. Kushner PD, Stephenson DT, Wright S (1991) Reactive astrogliosis is widespread in the subcortical white matter of amyotrophic lateral sclerosis brain. J Neuropathol Exp Neurol 50: 263–277PubMedCrossRefGoogle Scholar
  40. Leigh P N, Whitwell H, Garofalo O etal. (1991) Ubiquitin-immunoreactive intraneuronal inclusions in amyotrophic lateral sclerosis. Morphology, distribution, and specificity. Brain 114: 775–788PubMedCrossRefGoogle Scholar
  41. Li A, Swift M (2000) Mutations at the ataxia-telangiectasia locus and clinical phenotypes of A-T patients. Am J Med Genet 92: 170–177PubMedCrossRefGoogle Scholar
  42. Li H, Li S H, Johnston H, Shelbourne P F, Li X J (2000) Amino-terminal fragments of mutant huntingtin show selective accumulation in striatal neurons and synaptic toxicity. Nat Genet 25: 385–389PubMedCrossRefGoogle Scholar
  43. Litvan I, Hauw J J, Bartko J J etal. (1996) Validity and reliability of the preliminary NINDS neuropathologic criteria for progressive supranuclear palsy and related disorders. J Neuropathol Exp Neurol 55: 97–105PubMedCrossRefGoogle Scholar
  44. Lodi R, Cooper J M, Bradley J L etal. (1999) Deficit of in vivo mitochondrial ATP production in patients with Friedreich ataxia. Proc Natl Acad Sci USA 96: 11492–11495PubMedCrossRefGoogle Scholar
  45. Lowe J, Mayer R J, Landon M (1993) Ubiquitin in neurodegenerative diseases. Brain Pathol 3: 55–65PubMedCrossRefGoogle Scholar
  46. Ludolph A C, Meyer T, Riepe M W (2000) The role of excitotoxicity in ALS. What is the evidence? J Neurol 247 (Suppl 1): I 7–16Google Scholar
  47. Mann D M A, Oliver R, Snowden J S (1993) The topographic distribution of brain atrophy in Huntington’s disease and progressive supranuclear palsy. Acta Neuropathol 85: 553–559PubMedGoogle Scholar
  48. Matsumoto S, Kusaka H, Murakami N etal. (1992) Basophilic inclusions in sporadic juvenile amyotrophic lateral sclerosis: an immunocytochemical and ultrastructural study. Acta Neuropathol 83: 579–583PubMedCrossRefGoogle Scholar
  49. McDermott C J, White K, Bushby K, Shaw P J (2000) Hereditary spastic paraparesis: a review of new developments. J Neurol Neurosurg Psychiatry 69: 150–160PubMedCrossRefGoogle Scholar
  50. Miyoshi Y, Yamada T, Tanimura M etal. (2001) A novel autosomal dominant spinocerebellar ataxia (SCA16) linked to chromosome 8q22.1–24.1. Neurology 57: 96–100PubMedGoogle Scholar
  51. Monaco S, Nardelli E, Moretto G, Cavallaro T, Rizzuto N (1988) Cytoskeletal pathology in ataxia-telangiectasia. Clin Neuropathol 7: 44–46PubMedGoogle Scholar
  52. Murayama S, Bouldin T W, Suzuki K (1992) Immunocytochemical and ultrastructural studies of upper motor neurons in amyotrophic lateral sclerosis. Acta Neuropathol 83: 518–524PubMedCrossRefGoogle Scholar
  53. Oppenheimer D R (1979) Brain lesions in Friedreich’s ataxia. Can J Neurol Sci 6: 173–176PubMedGoogle Scholar
  54. Oppenheimer D R (1988) Neuropathology of autonomic failure. In: Bannister R (ed) Autonomic failure, 2nd edn. Oxford University Press, pp 451–463Google Scholar
  55. Orrell R W (2000) Amyotrophic lateral sclerosis: copper/zinc superoxide dismutase (SOD1) gene mutations. Neuromuscul Disord 10: 63–68PubMedCrossRefGoogle Scholar
  56. Oyanagi K, Wada M (1999) Neuropathology of parkinsonism-dementia complex and amyotrophic lateral sclerosis of Guam: an update. J Neurol 246 (Suppl 2): 19–27CrossRefGoogle Scholar
  57. Papp M I, Lantos P L (1994) The distribution of oligodendroglial inclusions in multiple system atrophy and its relevance to clinical symptomatology. Brain 117: 235–243PubMedCrossRefGoogle Scholar
  58. Paulus W, Jellinger K (1991) The neuropathologic basis of different clinical subgroups of Parkinson’s disease. J Neuropathol Exp Neurol 50: 743–755PubMedCrossRefGoogle Scholar
  59. Pringle C E, Hudson A J, Munoz D G etal. (1992) Primary lateral sclerosis. Clinical features, neuropathology and diagnostic criteria. Brain 115: 495–520PubMedCrossRefGoogle Scholar
  60. Rabin B A, Griffin J W, Crain B J, Scavina M, Chance P F, Cornblath D R (1999) Autosomal dominant juvenile amyotrophic lateral sclerosis. Brain 122: 1539–1550PubMedCrossRefGoogle Scholar
  61. Rajput A H, Uitti R J, Sudhakar S, Rozdilsky B (1989) Parkinsonism and neurofibrillary tangle pathology in pigmented nuclei. Ann Neurol 25: 602–606PubMedCrossRefGoogle Scholar
  62. Robberecht W (2000) Oxidative stress in amyotrophic lateral sclerosis. J Neurol 247 (Suppl 1): 1–6CrossRefGoogle Scholar
  63. Sandmann-Keil D, Braak H, Okochi M, Haass C, Braak E (1999) Alpha-synuclein immunoreactive Lewy bodies and Lewy neurites in Parkinson’s disease are detectable by an advanced silver-staining technique. Acta Neuropathol 98: 461–464PubMedCrossRefGoogle Scholar
  64. Shankar S K, Gourie-Devi M, Shankar L, Yasha T C, Santosh V, Das S (2000) Pathology of Madras type of motor neuron disease (MMND). A histological and immunohistochem- ical study. Acta Neuropathol 99: 428–434PubMedCrossRefGoogle Scholar
  65. Shimada A, Lange D J, Hays A P (1999) Amyotrophic lateral sclerosis in an adult following acute paralytic poliomyelitis in early childhood. Acta Neuropathol 97: 317–321PubMedCrossRefGoogle Scholar
  66. Shishikura K, Hara M, Sasaki Y, Misugi K (1983) A neuropathologic study of Werdnig-Hoffmann disease with special reference to the thalamus and posterior roots. Acta Neuropathol 60: 99–106PubMedCrossRefGoogle Scholar
  67. Stanford P M, Halliday G M, Brooks W S etal. (2000) Progressive supranuclear palsy pathology caused by a novel silent mutation in exon 10 of the tau gene: expansion of the disease phenotype caused by tau gene mutations. Brain 123: 880–893PubMedCrossRefGoogle Scholar
  68. Stevanin G, Durr A, Brice A (2000) Clinical and molecular advances in autosomal dominant cerebellar ataxias: from genotype to phenotype and physiopathology. Eur J Hum Genet 8: 4–18PubMedCrossRefGoogle Scholar
  69. Suzuki Y, Murakami N, Goto Y etal. (1997) Apoptotic nuclear degeneration in Marinesco-Sjogren syndrome. Acta Neuropathol 94: 410–415PubMedCrossRefGoogle Scholar
  70. The Huntington’s Disease Collaborative Research Group (1993) A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington’s disease chromosomes. Cell 72: 971–983Google Scholar
  71. Tokuda T, Ikeda S, Yanagisawa N, Ihara Y, Glenner G G (1991) Re-examination of ex-boxers’ brains using immunohistochemistry with antibodies to amyloid β-protein and tau protein. Acta Neuropathol 82: 280–285PubMedCrossRefGoogle Scholar
  72. van Duijn C M, Dekker M C J, Bonifati V etal. (2001) PARK7, a novel locus for autosomal recessive early-onset Parkinsonism, on chromosome lp36. Am J Hum Genet 69: 629–634PubMedCrossRefGoogle Scholar
  73. Vazza G, Zortea M, Boaretto F, Micaglio G F, Sartori V, Mostacciuolo M L (2000) A new locus for autosomal-recessive spastic paraplegia associated with mental retardation and distal motor neuropathy, SPG 14, maps to chromosome 3q27-q28. Am J Hum Genet 67: 504–509PubMedCrossRefGoogle Scholar
  74. Vonsattel J P, DiFiglia M (1998) Huntington disease. J Neuropathol Exp Neurol 57: 369–384PubMedCrossRefGoogle Scholar
  75. Vonsattel J P, Myers R H, Stevens T J etal. (1985) Neuropathological classification of Huntington’s disease. J Neuropathol Exp Neurol 44: 559–577PubMedCrossRefGoogle Scholar
  76. Wada M, Uchihara T, Nakamura A, Oyanagi K (1999) Bunina bodies in amyotrophic lateral sclerosis on Guam: a histochemical, immunohistochemical and ultrastructural investigation. Acta Neuropathol 98: 150–156PubMedCrossRefGoogle Scholar
  77. Wenning G K, Ben-Shlomo Y, Magalhaes M, Daniel S E, Quinn N P (1995) Clinicopathological study of 35 cases of multiple system atrophy. J Neurol Neurosurg Psychiatry 58: 160–166PubMedCrossRefGoogle Scholar
  78. White K D, Ince P G, Lusher M etal. (2000) Clinical and pathologic findings in hereditary spastic paraparesis with spastin mutation. Neurology 55: 89–94PubMedGoogle Scholar

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© Springer-Verlag Berlin Heidelberg 2002

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