Molecular basis of the neurodegenerative disorders

New England Journal of Medicine

Volumn 340, Issue 25, 1999, Pages 1970-1980

  Martin, Joseph B ^a  

^a HARVARD MEDICAL SCHOOL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ALPHA SYNUCLEIN; TAU PROTEIN;

AMYOTROPHIC LATERAL SCLEROSIS; CHROMOSOME 12; CHROMOSOME 14Q; CHROMOSOME 19Q; CHROMOSOME 21; DEGENERATIVE DISEASE; FRIEDREICH ATAXIA; HUMAN; HUMAN CELL; HUMAN TISSUE; MOLECULAR BIOLOGY; NEUROFIBRILLARY TANGLE; PARKINSON DISEASE; PATHOGENESIS; PRIORITY JOURNAL; REVIEW; SENILE PLAQUE; SPINOCEREBELLAR DEGENERATION; TRINUCLEOTIDE REPEAT;

ALZHEIMER DISEASE; AMYLOID BETA-PROTEIN; FRIEDREICH ATAXIA; GENE EXPRESSION; HUMANS; HUNTINGTON DISEASE; MUTATION; NEURODEGENERATIVE DISEASES; NEUROMUSCULAR DISEASES; PARKINSON DISEASE; SPINOCEREBELLAR DEGENERATIONS; TRINUCLEOTIDE REPEATS;

EID: 0033600301     PISSN: 00284793     EISSN: None     Source Type: Journal    
DOI: 10.1056/NEJM199906243402507     Document Type: Review

References (93)

1. Selkoe DJ. Molecular pathology of Alzheimer's disease: the role of amyloid. In: Growdon JH, Rossor MN, eds. The dementias. Vol. 19 of Blue books of practical neurology. Boston: Butterworth-Heinemann, 1998:257-83.
2. Clark CM, Ewbank D, Lee VMY, Trojanowski JQ. Molecular pathology of Alzheimer's disease: neuronal cytoskeletal abnormalities. In: Growdon JH, Rossor MN, eds. The dementias. Vol. 19 of Blue books of practical neurology. Boston: Butterworth-Heinemann, 1998:285-304.
3. Edwards RH. Molecular analysis of Parkinson's disease. In: Martin JB, ed. Molecular neurology. New York: Scientific American, 1998:155-74.
4. Brown RH. Amyotrophic lateral sclerosis and the inherited motor neuron diseases. In: Martin JB, ed. Molecular neurology. New York: Scientific American, 1998:223-38.
5. Kowall NW, Ferrante RJ, Martin JB. Patterns of cell loss in Huntington's disease. Trends Neurosci 1987;10:24-9.
6. Young AB. Huntington's disease and other trinucleotide repeat disorders. In: Martin JB, ed. Molecular neurology. New York: Scientific American, 1998:35-54.
7. Robitaille Y, Lopes-Cendes I, Becher M, Rouleau G, Clark AW. The neuropathology of CAG repeat diseases: review and update of genetic and molecular features. Brain Pathol 1997;7:901-26.
8. Gusella JF, Wexler NS, Conneally PM, et al. A polymorphic DNA marker genetically linked to Huntington's disease. Nature 1983;306:234-8.
9. Gusella JF, Martin JB. Principles of neurogenetics. In: Martin JB, ed. Molecular neurology. New York: Scientific American, 1998:1-18.
10. Martin JB, ed. Molecular neurology. New York: Scientific American, 1998.
11. Burke RE. Apoptosis in degenerative diseases of the basal ganglia. Neuroscientist 1998;4:301-11.
12. Johnson RT, Gibbs CJ Jr. Creutzfeldt-Jakob disease and related transmissible spongiform encephalopathics. N Engl J Med 1998;339:1994-2004.
13. Lang AE, Lozano AM. Parkinson's disease. N Engl J Med 1998;339: 1044-53, 1130-43.
14. Price DL, Sisodia SS. Mutant genes in familial Alzheimer's disease and transgenic models. Annu Rev Neurosci 1998;21:479-505.
15. Terry RD, Katzman R, Bick KL, Sisodia SS, eds. Alzheimer disease. 2nd ed. New York: Lippincott-Raven (in press).
16. Hyman BT, Van Hoesen GW, Damasio AR. Memory-related neural systems in Alzheimer's disease: an anatomic study. Neurology 1990;40: 1721-30.
17. Neve RL, Robakis NK. Alzheimer's disease: a re-examination of the amyloid hypothesis. Trends Neurosci 1998;21:15-9.
18. Cummings JL, Vinters HV, Cole GM, Khachaturian ZS. Alzheimer's disease: etiologies, pathophysiology, cognitive reserve, and treatment opportunities. Neurology 1998;51:Suppl 1:S2-S17.
19. St George-Hyslop PH, Tanzi RE, Polinsky RJ, et al. The genetic defect causing familial Alzheimer's disease maps on chromosome 21. Science 1987;235:885-90.
20. Cruts M, Van Broeckhoven C. Molecular genetics of Alzheimer's disease. In: Growdon JH, Rossor MN, eds. The dementias. Vol. 19 of Blue books of practical neurology. Boston: Butterworth-Heinemann, 1998:155-70.
21. Marx J. New gene tied to common form of Alzheimer's. Science 1998; 281:507, 509.
22. Fraser PE, Yu G, Levesque G, et al. Molecular genetics of the presenilins in Alzheimer's disease. In: Younkin SG, Tanzi RE, Christen Y, eds. Presenilins and Alzheimer's disease. Berlin, Germany: Springer-Verlag, 1998:1-10.
23. Sherrington R, Rogaev EI, Liang Y, et al. Cloning of a gene bearing missense mutations in early-onset familial Alzheimer's disease. Nature 1995;375:754-60.
24. Haas C, Grunberg J, Capell A, et al. Proteolytic processing of Alzheimer's disease associated proteins. J Neural Transm Suppl 1998;53:159-67.
25. Goméz-Isla T, Rebeck GW, Irizarry MC, Greenberg SM, Hyman BT. Apolipoprotein E and Alzheimer's disease. In: Growdon JH, Rossor MN, eds. The dementias. Vol. 19 of Blue books of practical neurology. Boston: Butterworth-Heinemann, 1998:171-87.
26. Farrer LA, Cupples LA, Haines JL, et al. Effects of age, sex, and ethnicity on the association between apolipoprotein E genotype and Alzheimer disease: a meta-analysis. JAMA 1997;278:1349-56.
27. McConnell LM, Koenig BA, Greely HT, Raffin TA. Genetic testing and Alzheimcr disease: has the time come? Nat Med 1998;4:757-9.
28. Blacker D, Wilcox MA, Laird NM, et al. Alpha-2 macroglobulin is genetically associated with Alzheimer disease. Nat Genet 1998;19:357-60.
29. Kehoe P, Wavrant-De Vrieze F, Crook R, et al. A full genome scan for late onset Alzheimer's disease. Hum Mol Genet 1999;8:237-45.
30. Wolfe MS, Xia W, Ostaszewski BL, Diehl TS, Kimberly WT, Selkoe DJ. Two transmembrane aspartates in presenilin-1 required for presenilin endoproteolysis and γ-secretase activity. Nature 1999;398:613-7.
31. Hardy J, Gwinn-Hardy K. Genetic classification of primary neurodegenerative disease. Science 1998;282:1075-9.
32. Goedert M, Spillantini MG, Davies SW. Filamentous nerve cell inclusions in neurodegenerative diseases. Curr Opin Neurobiol 1998;8:619-32.
33. Clinical and neuropathological criteria for frontotemporal dementia. J Neurol Neurosurg Psychiatry 1994;57:416-8.
34. Wilhelmsen KC, Lynch T, Pavlou E, Higgins M, Nygaard TG. Localization of disinhibition-dementia-parkinsonism-amyotrophy complex to 17q21-22. Am J Hum Genet 1994;55:1159-65.
35. Lynch T, Sano M, Marder KS, et al. Clinical characteristics of a family with chromosome 17-linked disinhibition-dementia-parkinsonism-amyotrophy complex. Neurology 1994;44:1878-84.
36. Poorkaj P, Bird TD, Wijsman E, et al. Tau is a candidate gene for chromosome 17 frontotemporal dementia. Ann Neurol 1998;43:815-25. [Erratum, Ann Neurol 1998;44:428.]
37. Hutton M, Lendon CL, Rizzu P, et al. Association of missense and 5'-splice-site mutations in tau with the inherited dementia FTDP-17. Nature 1998;393:702-5.
38. Hardy J, Duff K, Hardy KG, et al. Genetic dissection of Alzheimer's disease and related dementias: amyloid and its relationship to tau. Nat Neurosci 1998;1:355-8.
39. The Huntington's Disease Collaborative Research Group. A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes. Cell 1993;72:971-83.
40. Gusella JF, Persichetti F, MacDonald ME. The genetic defect causing Huntington's disease: repeated in other contexts? Mol Med 1997;3:238-46.
41. Martin JB. Pathogenesis of neurodegenerative disorders: the role of dynamic mutations. Neuroreport 1996;8:i-vii.
42. MacDonald ME, Barnes G, Srinidhi J, et al. Gametic but not somatic instability of CAG repeat length in Huntington's disease. J Med Genet 1993;30:982-6.
43. Myers RH, MacDonald ME, Koroshetz WJ, et al. De novo expansion of a (CAG)n repeat in sporadic Huntington's disease. Nat Genet 1993;5: 168-73.
44. Durr A, Dode C, Hahn V, et al. Diagnosis of "sporadic" Huntington's disease. J Neurol Sci 1995;129:51-5.
45. Alves-Rodrigues A, Gregori L, Figueiredo-Pereira ME. Ubiquitin, cellular inclusions and their role in neurodegeneration. Trends Neurosci 1998; 21:516-20.
46. Saudou F, Finkbeiner S, Devys D, Greenberg ME. Huntingtin acts in the nucleus to induce apoptosis but death does not correlate with the formation of intranuclear inclusions. Cell 1998;95:55-66.
47. Schols L, Amoiridis G, Buttner T, Przuntek H, Epplen J, Riess O. Autosomal dominant cerebellar ataxia: phenotypic differences in genetically defined subtypes. Ann Neurol 1997;42:924-32.
48. Banfi S, Servadio A, Chung MY, et al. Identification and characterization of the gene causing type 1 spinocerebellar ataxia. Nat Genet 1994;7: 513-20.
49. Sanpei K, Takano H, Igarashi S, et al. Identification of the spinocerebellar ataxia type 2 gene using a direct identification of repeat expansion and cloning technique, DIRECT. Nat Genet 1996;14:277-84.
50. Ikeda H, Yamaguchi M, Sugai S, Aze Y, Narumiya S, Kakizuka A. Expanded polyglutamine in the Machado-Joseph disease protein induces cell death in vitro and in vivo. Nat Genet 1996;13:196-202.
51. 1a-voltage-dependent calcium channel. Nat Genet 1997;15:62-9.
52. David G, Durr A, Stevanin G, et al. Molecular and clinical correlations in autosomal dominant cerebellar ataxia with progressive macular dystrophy (SCA7). Hum Mol Genet 1998;7:165-70.
53. Del-Favero J, Krols L, Michalik A, et al. Molecular genetic analysis of autosomal dominant cerebellar ataxia with retinal degeneration (ADCA type II) caused by CAG triplet repeat expansion. Hum Mol Genet 1998; 7:177-86.
54. Gomez CM, Thompson RM, Gammack JT, et al. Spinocerebellar ataxia type 6: gaze-evoked and vertical nystagmus, Purkinje cell degeneration, and variable age of onset. Ann Neurol 1997;42:933-50.
55. 1A voltage-dependent calcium channel gene and clinical variations in Japanese population. Ann Neurol 1997;42:879-84.
56. Cummings CJ, Mancini MA, Antalffy B, DeFranco DB, Orr HT, Zoghbi HY. Chaperone suppression of aggregation and altered subcellular proteasome localization imply protein misfolding in SCA1. Nat Genet 1998;19:148-54.
57. Paulson HL, Perez MK, Trottier Y, et al. Intranuclear inclusions of expanded polyglutamine protein in spinoccrebellar ataxia type 3. Neuron 1997;19:333-44.
58. Hard FU. Molecular chaperones in cellular protein folding. Nature 1996;381:571-9.
59. Hendricks JP, Hartl FU. Molecular chaperone functions of heat shock proteins. Annu Rev Biochem 1993;62:349-84.
60. Koob MD, Moseley ML, Schut LJ, et al. An untranslated CTG expansion causes a novel form of spinocerebellar ataxia. Nat Genet 1999;21:379-84.
61. Dürr A, Cossee M, Agid Y, et al. Clinical and genetic abnormalities in patients with Friedreich's ataxia. N Engl J Med 1996;335:1169-75.
62. Campuzano V, Montermini L, Molto MD, et al. Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion. Science 1996;271:1423-7.
63. Chamberlain S, Shaw J, Rowland A, et al. Mapping of mutation causing Friedreich's ataxia to human chromosome 9. Nature 1988;334:248-50.
64. Gray JV, Johnson KJ. Waiting for frataxin. Nat Genet 1997;16:323-5.
65. Campuzano V, Montermini L, Lutz Y, et al. Frataxin is reduced in Friedreich ataxia patients and is associated with mitochondrial membranes. Hum Mol Genet 1997;6:1771-80.
66. Koutnikova H, Campuzano V, Foury F, Dolle P, Cazzalini O, Koenig M. Studies of human, mouse and yeast homologues indicate a mitochondrial function for frataxin. Nat Genet 1997;16:345-51.
67. Wilson RB, Roof DM. Respiratory deficiency due to loss of mitochondrial DNA in yeast lacking the frataxin homologue. Nat Genet 1997;16: 352-7.
68. Gibson TJ, Koonin EV, Musco G, Pastore A, Bork P. Friedreich's ataxia protein: phylogenetic evidence for mitochondrial dysfunction. Trends Neurosci 1996;19:465-8.
69. Babcock M, de Silva D, Oaks R, et al. Regulation of mitochondrial iron accumulation by Yfh1p, a putative homolog of frataxin. Science 1997; 276:1709-12.
70. Polymeropoulos MH, Higgins JJ, Golbe LI, et al. Mapping of a gene for Parkinson's disease to chromosome 4q21-q23. Science 1996;274:1197-9.
71. Polymeropoulos MH, Lavedan C, Leroy E, et al. Mutation in the alpha-synuclein gene identified in families with Parkinson's disease. Science 1997;276:2045-7.
72. Leroy E, Boyer R, Auburger G, et al. The ubiquitin pathway in Parkinson's disease. Nature 1998;395:451-2.
73. Clayton DF, George JM. The synucleins: a family of proteins involved in synaptic function, plasticity, neurodegeneration and disease. Trends Neurosci 1998;21:249-54.
74. Heintz N, Zoghbi H. α-Synuclein - a link between Parkinson and Alzheimer diseases? Nat Genet 1997;16:325-7.
75. Kitada T, Asakawa S, Hattori N, et al. Mutations in the parkin gene cause autosomal recessive juvenile parkinsonism. Nature 1998;392:605-8.
76. Mulder DW, Kurland LT, Offord KP, Beard CM. Familial adult motor neuron disease: amyotrophic lateral sclerosis. Neurology 1986;36:511-7.
77. Leigh PN, Anderton BH, Dodson A, et al. Ubiquitin deposits in anterior horn cells in motor neurone disease. Neurosci Lett 1988;93:197-203.
78. Mezey E, Dehejia A, Harta G, Papp MI, Polymeropoulos MH, Brownstein MJ. Alpha synuclein in neurodegenerative disorders: murderer or accomplice? Nat Med 1998;4:755-7.
79. Rosen DR, Siddique T, Patterson D, et al. Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis. Nature 1993;362:59-62. [Erratum, Nature 1993;364:362.]
80. Reaume AG, Elliot JL, Hoffman EK, et al. Motor neurons in Cu/Zn superoxide dismutase-deficient mice develop normally but exhibit enhanced cell death after axonal injury. Nat Genet 1996;13:43-7.
81. Gurney ME, Pu H, Chiu AY, et al. Motor neuron degeneration in mice that express a human Cu, Zn superoxide dismutase mutation. Science 1994;264:1772-5. [Erratum, Science 1995;269:149.]
82. Kostic V, Jackson-Lewis V, de Bilbao F, Dubois-Dauphin M, Przedborski S. Bcl-2: prolonging life in a transgenic mouse model of familial amyotrophic lateral sclerosis. Science 1997;277:559-62.
83. Friedlander RM, Brown RH, Gagliardini V, Wang J, Yuan J. Inhibition of ICE slows ALS in mice. Nature 1997;388:31. [Erratum, Nature 1998; 392:560.]
84. Lefebvre S, Bürglen L, Reboullet S, et al. Identification and characterization of a spinal muscular atrophy-determining gene. Cell 1995;80:155-65.
85. Liu Q, Dreyfuss G. A novel nuclear structure containing the survival of motor neurons protein. EMBO J 1996;15:3555-65.
86. Lefebvre S, Bürglen L, Frezal J, Munnich A, Melki J. The role of the SMN gene in proximal spinal muscular atrophy. Hum Mol Genet 1998;7: 1531-6.
87. Brahe C, Clermont O, Zappata S, Tiziano F, Melki J, Neri G. Frameshift mutation in the survival motor neuron gene in a severe case of SMA type I. Hum Mol Genet 1996;5:1971-6.
88. Hahnen E, Schonling J, Rudnick-Schoneborn S, Raschke H, Zerres K, Wirth B. Missense mutations in exon 6 of the survival motor neuron gene in patients with spinal muscular atrophy (SMA). Hum Mol Genet 1997;6:821-5.
89. LaSpada AR, Wilson EM, Lubahn DB, Harding AE, Fishbeck KH. Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy. Nature 1991;352:77-9.
90. Benson KF, Horwitz M, Wolff J, et al. CAG repeat expansion in autosomal dominant familial spastic paraparesis: novel expansion in a subset of patients. Hum Mol Genet 1998;7:1779-86.
91. Nielsen JE, Koefoed P, Abell K, et al. CAG repeat expansion in autosomal dominant pure spastic paraplegia linked to chromosome 2p21-p24. Hum Mol Genet 1997;6:1811-6.
92. Heinzlef O, Paternotte C, Mahicux F, et al. Mapping of a complicated familial spastic paraplegia to locus SPG4 on chromosome 2p. J Med Genet 1998;35:89-93.
93. Casari G, De Fusco M, Ciarmatori S, et al. Spastic paraplegia and OXPHOS impairment caused by mutations in paraplegin, a nuclear-encoded mitochondrial metalloprotease. Cell 1998;93:973-83.