Juvenile-onset generalized neuroaxonal dystrophy (Hallervorden-Spatz disease) with diffuse neurofibrillary and Lewy body pathology

Acta Neuropathologica

Volumn 99, Issue 3, 2000, Pages 331-336

  Wakabajashi, Koichi ^a   Fukushima, Takao ^b   Koide, Reiji ^b   Horikawa, Yoh ^b   Hasegawa, Masato ^c   Watanabe, Yumiko ^b   Noda, Tsunehiko ^b   Eguchi, Ikuyo ^b   Morita, Takashi ^b   Yoshimoto, Makoto ^d   Iwatsubo, Takeshi ^c   Takahashi, Hitoshi ^a  

^a NIIGATA UNIVERSITY   (Japan)

^b Shinrakuen Hospital   (Japan)

^c UNIVERSITY OF TOKYO   (Japan)

^d Molecular Biology Laboratory   (Japan)

Author keywords

Hallervorden Spatz disease; Lewy body; Neuroaxonal dystrophy; Neurofibrillary tangle; Tau

Indexed keywords

ALPHA SYNUCLEIN; IRON; TAU PROTEIN;

ADULT; AKINETIC MUTISM; ARTICLE; AUTOPSY; BASAL GANGLION; BRAIN STEM; BRAIN WEIGHT; CASE REPORT; CLINICAL FEATURE; DEMENTIA; GLOBUS PALLIDUS; GRAY MATTER; HALLERVORDEN SPATZ DISEASE; HIPPOCAMPUS; HUMAN; HUMAN CELL; HUMAN TISSUE; IMMUNOBLOTTING; LEWY BODY; MALE; MYOCLONUS; NEOCORTEX; NEUROAXONAL DYSTROPHY; NEUROFIBRILLARY TANGLE; PRIORITY JOURNAL; QUADRIPLEGIA; SPINAL CORD; SUBSTANTIA NIGRA;

EID: 0033953962     PISSN: 00016322     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004010050049     Document Type: Article

References (41)

1. Alberca R, Rafel E, Chinchon I, Vadillo J, Navarro A (1987) Late onset Parkinsonian syndrome in Hallervorden-Spatz disease. J Neurol Neurosurg Psychiatry 50: 1665-1668
2. Antoine JC, Tommasi M, Chalumeau A, Jouvet-Telinge A, Bourrat C (1985) Maladie de Hallervorden-Spatz avec Corps de Lewy. Rev Neurol (Paris) 12:806-809
3. Arawaka S, Saito Y, Murayama S, Mori H (1998) Lewy body in neurodegeneration with brain iron accumulation type 1 is immunoreuctive for α-synuclein. Neurology 51:887-889
4. Baba M, Nakajo S, Tu P-H, Tomita T, Nakaya K, Lee VM-Y, Trojanowski JQ, Iwatsubo T (1998) Aggregation of α-synuclein in Lewy bodies of sporadic Parkinson's disease and dementia with Lewy bodies. Am J Pathol 152:879-884
5. Bodhireddy S, Dickson DW, Mattiace L, Weidenheim KM (1994) A case of Down's syndrome with diffuse Lewy body disease and Alzheimer's disease. Neurology 44:159-161
6. Bornstein B, Sandbank U, Fried Y (1966) Hallervorden Spatz disease associated with Lewy type inclusions. Confin Neurol 27:397-405
7. Chichibu M, Oyake Y, Murone I (1966) An autopsy case of Hallervorden-Spatz syndrome with Lewy's inclusion body. Shinkei Kenkyu No Shimpo 10:700-707
8. Conway KA, Harper JD, Lansbury PT (1998) Accelerated in vitro fibril formation by a mutant α-synuclein linked to early-onset Parkinson disease. Nat Med 4: 1318-1320
9. Defendini R, Markesbery WR, Mastri AR, Duffy PE (1973) Hallervorden-Spatz disease and infantile neuroaxonal dystrophy. Ultrastructural observations, anatomical pathology and nosology. J Neurol Sci 20:7-23
10. Dooling EC, Schoene WC, Richardson EP (1974) Hallervorden-Spatz syndrome. Arch Neurol 30:70-83
11. Eidelberg D, Sotrel A, Joachim C, Selkoe D, Forman A, Pendlebury WW, Perl DP (1987) Adult onset Hallervorden-Spatz disease with neurofibrillary pathology. A discrete clinicopathological entity. Brain 110:993-1013
12. Fuse S, Inoue K, Iwata M, Mannen T, Toyokura Y (1987) An autopsy case of Hallervorden-Spatz disease with protracted course of about 30 years. Clin Neurol (Tokyo) 27:155-167
13. Gaytan-Garcia S, Kaufmann JCE, Young GB (1990) Adult on-set Hallervorden-Spatz syndrome or Seitelberger's disease with late onset: variants of the same entity? A clinico-pathological study. Clin Neuropathol 9: 136-142
14. Gibb WRG, Lees AJ (1988) The relevance of the Lewy body to the pathogenesis of idiopathic Parkinson's disease. J Neurol Neurosurg Psychiatry 51:745-752
15. Gilman S, Barrett RE (1973) Hallervorden-Spatz disease and infantile neuroaxonal dystrophy. Clinical characteristics and nosological considerations. J Neurol Sci 19:189-205
16. Goedert M (1998) Neurofibrillary pathology of Alzheimer's disease and other tauopathies. Prog Brain Res 117:287-306
17. Goedert M, Spillantini MG, Cairns NJ, Crowther RA (1992) Tau proteins of Alzheimer paired helical filaments: abnormal phosphorylation of all six brain isoforms. Neuron 8: 159-168
18. Halliday W (1995) The nosology of Hallervorden-Spatz disease. J Neurol Sci 134 [Suppl]: 84-91
19. Hartmann HA, White SK, Levine RL (1983) Neuroaxonal dystrophy with neuromelanin deposition, neurofibrillary tangles, and neuronal loss. Light- and electron-microscopic changes in a 45-year-old woman with progressive psychomotor deterioration. Acta Neuropathol (Berl) 61:169-172
20. Hashimoto M, Hsu LJ, Sisk A, Xia Y, Takeda A, Sundsmo M, Masliah E (1998) Human recombinant NACP/α-synuclein is aggregated and fibrillated in vitro: relevance for Lewy body disease. Brain Res 799:301-306
21. Hayashi S, Akasaki Y, Morimura Y, Takauchi S, Sato M, Miyoshi K (1992) An autopsy case of late infantile and juvenile neuroaxonal dystrophy with diffuse Lewy bodies and neurofibrillary tangles. Clin Neuropathol 11:1-5
22. Irizarry MC, Growdon W, Gomez-Isla T, Newell K, George JM, Clayton DF, Hyman BT (1998) Nigral and cortical Lewy bodies and dystrophic nigral neurites in Parkinson's disease and cortical Lewy body disease contain α-synuclein immunoreactivily. J Neuropathol Exp Neurol 57:334-337
23. Iwai A, Masliah E, Yoshimoto M, Ge N, Flanagan L, Rohan de Silva HA, Kittel A, Saitoh T (1995) The precursor protein of non-Aβ component of Alzheimer's disease amyloid is a presynaptic protein of the central nervous system. Neuron 14:467-475
24. Jellinger K (1973) Neuroaxonal dystrophy: its natural history and related disorders. Prog Neuropathol 2:129-180
25. Kitamoto T, Amano N, Terao Y, Nakazato Y, Isshiki T, Mizutani T, Tateishi J (1993) A new inherited prion disease (PrP-P105L mutation) showing spastic paraparesis. Ann Neurol 34: 808-813
26. Krüger R, Kuhn W, Müller T, Woitalla D, Graeber M, Kösel S, Przuntek H, Epplen JT, Schöls L, Riess O (1998) Ala30Pro mutation in the gene encoding α-synuclein in Parkinson's disease. Nat Genet 18: 106-108
27. Lippa CF, Fujiwara H, Mann DMA, Giasson B, Baba M, Schmidt ML, Nee LE, O'Connell B, Pollen DA, George-Hyslop P, Ghelti B, Nochlin D, Bird TD, Cairns NJ, Lee VM-Y, Iwalsubo T, Trojanowski JQ (1998) Lewy bodies contain altered α-synuclein in brains of many familial Alzheimer's disease patients with mutations in presenilin and amyloid precursor protein genes. Am J Pathol 153:1365-1370
28. Park BE, Netsky MG, Betsill WL (1975) Pathogenesis of pigment and spheroid formation in Hallervorden-Spatz syndrome and related disorders. Peroxidation as a common mechanism. Neurology 25:1172-1178
29. Polymeropoulos MH, Lavedan C, Leroy E, Ide SE, Dehejia A, Dutra A, Pike B, Root H, Rubenstein J, Boyer R, Stenroos ES, Chandrasekharappa S, Athanassiadou A, Papapetropoulos T, Johnson WG, Lazzarini AM, Duvoisin RC, Di Iorio G, Golbe LI, Nussbaum RL (1997) Mutation in the α-synuclein gene identified in families with Parkinson's disease. Science 276: 2045-2047
30. Rozdilsky B, Bolton CF, Takeda M (1971) Neuroaxonal dystrophy. A case of delayed onset and protracted course. Acta Neuropathol (Berl) 17:331-340
31. Seitelberger F (1986) Neuroaxonal dystrophy: its relation to aging and neurological diseases. Handb Clin Neurol 5 (49):391-415
32. Spillantini MG, Schmidt ML, Lee VM-Y, Trojanowski JQ, Jakes R, Goedert M (1997) α-Synuclein in Lewy bodies. Nature 388:839-840
33. Sugiyama H, Hainfellner JA, Schmid-Siegel B, Budka H (1993) Neuroaxonal dystrophy combined with diffuse Lewy body disease in a young adult. Clin Neuropathol 12:147-152
34. Takeda A, Mallory M, Sundsmo M, Honer W, Hansen L, Masliah E (1998) Abnormal accumulation of NACP/α-synuclein in neurodegenerative disorders. Am J Pathol 152:367-372
35. Taylor TD, Litt M, Kramer P, Pandolfo M, Angelini L, Nardocci N, Davis S, Pineda M, Hattori H, Flett PJ, Cilio MR, Bertini E, Hayflick SJ (1996) Homozygosity mapping of Hallervorden-Spatz syndrome to chromosome 20p12.3-p13. Nat Genet 14:479-481
36. Tomonaga M (1983) Neuropathology of the locus ceruleus: a semi-quantitative study. J Neurol 230:231-240
37. Tu P-H, Galvin JE, Baba M, Giasson B, Tomita T, Leight S, Nakajo S, Iwatsubo T, Trojanowski JQ, Lee VM-Y (1998) Glial cytoplasmic inclusions in white matter oligodendrocytes of multiple system atrophy brains contain insoluble α-synuclein. Ann Neurol 44:415-422
38. Vuia O (1977) Neuroaxonal dystrophy, a juvenile-adult form. Clin Neurol Neurosurg 79:307-315
39. Wakabayasbi K, Hayashi S, Kakita A, Yamada M, Toyoshima Y, Yoshimoto M, Takahashi H (1998) Accumulation of α-synuclein/NACP is a cytopathological feature common to Lewy body disease and multiple system atrophy. Acta Neuropathol 96:445-452
40. Williamson K, Sima AAF, Curry B, Ludwin SK (1982) Neuroaxonal dystrophy in young adults: a clinicopathological study of two unrelated cases. Ann Neurol 11:335-343
41. Wisniewski K, Jervis GA, Moretz RC, Wisniewski HM (1979) Alzheimer neurofibrillary tangles in diseases other than senile and presenile dementia. Ann Neurol 5:288-294