Neurogenetic diseases: Molecular diagnosis and therapeutic approaches

Journal of Molecular Medicine

Volumn 74, Issue 2, 1996, Pages 71-84

  Muller U ^a   Graeber, M B ^b  

^a JUSTUS LIEBIG UNIVERSITY   (Germany)

^b UNIVERSITY OF MUNICH   (Germany)

Author keywords

Expanding trinucleotide repeat; Gene therapy; Linkage mapping; Mutation analysis; Risk calculation

Indexed keywords

ALZHEIMER DISEASE; DNA SEQUENCE; GENE MAPPING; GENE MUTATION; GENE THERAPY; HUMAN; HUNTINGTON CHOREA; MOLECULAR GENETICS; NEUROLOGIC DISEASE; PARKINSON DISEASE; REVIEW; RISK ASSESSMENT;

EID: 0029918466     PISSN: 09462716     EISSN: None     Source Type: Journal    
DOI: 10.1007/BF00196782     Document Type: Review

References (110)

1. Müller U, Graeber MB, Haberhausen G, Köhler A (1994) Molecular basis and diagnosis of neurogenetic disorders. J Neurol Sci 124:119-140
2. Baraitser M (1990) The genetics of neurological disorders, 2nd edn. Oxford Medical, Oxford New York Tokyo
3. 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 72:971-983
4. LaSpada AR, Wilson EM, Lubahn DB, Harding AE, Fischbeck KH (1991) Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy. Nature 352:77-79
5. Kremer B, Weber B, Hayden MR (1992) New insights into the clinical features, pathogenesis and molecular genetics of Huntington disease. Brain Pathol 2:321-335
6. Gusella JF, Wexler NS, Conneally PM, Naylor SL, Anderson MA, Tanzi RE, Watkins PC, Ottina K, Wallace MR, Sakaguchi AY, Young AB, Shoulson I, Bonilla E, Martin JB (1983) A polymorphic DNA marker genetically linked to Huntington's disease. Nature 306:234-238
7. Andrew SE, Goldberg YP, Kremer B, Telenius H, Theilmann J, Adam S, Starr E, Squitieri F, Lin B, Kalchman MA, Graham RK, Hayden MR (1993) The relationship between trinucleotide (CAG) repeat length and clinical features of Huntington's disease. Nature Genet 4:398-403
8. Duyao M, Ambrose C, Myers R, Novelletto A, Persichetti F, Frontali M, Folstein S, Ross C, Franz M, Abbott M, Gray J, Conneally P, Young A, Penney J, Hollingsworth Z, Shoulson I, Lazzarini A, Falek A, Koroshetz W, Sax D, Bird E, Vonsattel J, Bonilla E, Alvir J, Conde JB, Cha J-H, Dure L, Comez F, Ramos M, Sanchez-Ramos J, Snodgrass S, De Young M, Wexler N, Moscowitz C, Penchaszadeh G, MacFarlane H, Anderson M, Jenkins B, Srinidhi J, Barnes G (1993) Trinucleotide repeat length instability and age of onset in Huntington's disease. Nature Genet 4:387-392
9. Goldberg YP, Andrew SE, Clarke LA, Hayden MR (1993) A PCR method for accurate assessment of trinucleotide repeat expansion in Huntington diesease. Hum Mol Genet 2:635-636
10. Telenius H, Kremer HPH, Theilmann J, Andrew SE, Almqvist E, Anvret M, Greenberg C, Greenberg J, Lucotte G, Squitieri F, Starr E, Goldberg YP, Hayden MR (1993) Molecular analysis of juvenile Huntington disease: the major influence on (CAG)n repeat length is the sex of the affected parent. Hum Mol Genet 2:1535-1540
11. Riess O, Noerremoelle A, Soerensen SA, Epplen J (1993) Improved PCR conditions for the stretch of (CAG)n repeats causing Huntington's disease. Hum Mol Genet 2:637
12. Goldberg YP, Kremer B, Andrew S, E, Theilmann J, Graham R, K, Squitieri F, Telenius H, Adam S, Sajoo A, Starr E, Heiberg A, Wolff G, Hayden M, R (1993) Molecular analysis of new mutations for Huntington's disease: intermediate alleles and sex of origin effects. Nature Genet 5:174-179
13. Rubinsztein DC, Leggo J, Barton DE, Ferguson-Smith MA (1993) Site of (CCG) polymorphism in the HD gene. Nature Genet 5:214-215
14. Andrew SE, Goldberg YP, Theilmann J, Zeisler J, Hayden MR (1994) A CCG repeat polymorphism adjacent to the CAG repeat in the Huntington disease gene: implications for diagnostic accuracy and predictive testing. Hum Mol Genet 3:65-67
15. Warner JP, Barron LH, Brock DJH (1993) A new polymerase chain reaction (PCR) assay for the trinucleotide repeat that is unstable and expanded on Huntington's disease chormosomes. Mol Cell Probes 7:235-239
16. Biancalana V, Serville F, Pommier J, Julien J, Hanauer A, Mandel JL (1992) Moderate instability of the trinucleotide repeat in spino bulbar muscular atrophy. Human Mol Genet 1:255-258
17. Rosenberg RN (1995) Autosomal dominant cerebellar phenotypes: the genotype has settled the issue. Neurol 45:1-5
18. Zoghbi HY, Pollack MS, Lyons LA, Ferrell RE, Daiger SP, Beaudet AL (1988) Spinocerebellar ataxia: variable age of onset and linkage to human leukocyte antigen in a large kindred. Ann Neurol 23:580-584
19. Ranum LPW, Schut LJ, Lundgren JK, Orr HT, Livingston DM (1994) Spinocerebellar ataxia type 5 in a family descend from the grandparents of President Lincoln maps to chromosome 11. Nature Genet 8:280-284
20. Gispert S, Twells R, Orozco G, Brice A, Weber J, Heredero L, Scheufler K, Riley B, Allotey R, Nothers C, Hillermann R, Lunkes A, Khati C, Stevanin G, Hernandez A, Magarino C, Klockgether T, Durr A, Chneiweiss H, Enczmann J, Farrall M, Beckmann J, Mullan M, Wernet P, Agid Y, Freund HJ, Williamson R, Auburger G, Chamberlain S (1993) Chromosomal assignment of the second locus for autosomal dominant cerebellar ataxia (SCA2) to chromosome 12q23-24.1. Nature Genet 4:295-299
21. Stevanin G, Cancel G, Durr A, Chneiweiss H, Dubourg O, Weissenbach J, Cann HM, Agid Y, Brice A (1995) The gene for spinal cerebellar ataxia 3 (SCA3) is located in a region of ∼3 cM on chromosome 14q24.3-q32.2. Am J Hum Genet 56:193-201
22. Gardner K, Alderson K, Galster B, Kaplan C, Leppert M, Ptacek L (1994) Autosomal dominant spinocerebellar ataxia: clinical description of a distinct hereditary ataxia and genetic localization to chromosome 16 (SCA4) in a Utah kindred (abstract). Neurol 44 [Suppl]:A361
23. Orr HT, Chung M, Banfi S, Kwiatkowski TJ, Servadio A, Beaudet AL, McCall AE, Duvick LA, Ranum LPW, Zoghbi HY (1993) Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1. Nature Genet 4:221-226
24. Schöls L, Vieira-Saecker AMM, Schöls S, Przuntek H, Epplen JT, Riess O (1995) Trinucleotide expansion within the MJD1 gene presents clinically as spinocerebellar ataxia and occurs most frequently in German SCA patients. Hum Mol Genet 4:1001-1005
25. Haberhausen G, Damian MS, Leweke F, Müller U (1995) Spinocerebellar ataxia, type 3 (SCA3) is genetically identical to Machado-Joseph disease (MJD). J Neurol Sci 132:71-75
26. Kawaguchi Y, Okamoto T, Taniwaki M, Aizawa M, Inoue M, Katayama S, Kawakami H, Nakamura S, Nishimura M, Akiguchi I, Kimura J, Narumiya S, Kakizuka A (1994) CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1. Nature Genet 8:221-228
27. Koide R, Ikeuchi T, Onodera O, Tanaka H, Igarashi S, Endo K, Takahashi H, Kondo R, Ishikawa A, Hayashi T, Saito M, Tomoda A, Miike T, Naito H, Ikuta F, Tsuji S (1994) Unstable expansion of CAG repeat in hereditary dentatorubral-pallidoluysian atrophy (DRPLA). Nature Genet 6:9-13
28. Nagafuchi S, Yanagisawa H, Sato K, Shirayama T, Ohsaki E, Bundo M, Takeda T, Tadokoro K, Kondo I, Murayama N, Tanaka Y, Kikushima H, Umino K, Kurosawa H, Furukawa T, Nihei K, Inoue T, Sano A, Komure O, Takahashi M, Yoshizawa T, Kanazawa I, Yamada M (1994) Dentatorubral and pallidoluysian atrophy expansion of an unstable CAG trinucleotide on chromosome 12p. Nature Genet 6:14-18
29. Komure O, Sano A, Nishino N, Yamauchi N, Ueno S, Kondoh K, Sano N, Takahashi M, Murayama N, Kondo I, Nagafuchi S, Yamada M, Kanazawa I (1995) DNA analysis in hereditary dentatorubralpallidoluysian atrophy: correlation between CAG repeat length and phenotypic variation and the molecular basis of anticipation. Neurology 45:143-149
30. Genis D, Matilla T, Volpini V, Rosell J, Davalos A, Ferrer I, Molins A, Estivill X (1995) Clinical, neuropathologic, and genetic studies of a large spinocerebellar ataxia type 1 (SCA1) kindred: (CAG)n expansion and early premonitory signs and symptoms. Neurology 45:24-30
31. Rosen DR, Siddique T, Patterson D, Figlewicz DA, Sapp P, Hentati A, Donaldson D, Goto J, Oregan JP, Deng HX, Rahmani Z, Krizus A, Mckennayasek D, Cayabyab A, Gaston SM, Berger R, Tanzi RE, Halperin JJ, Herzfeldt B, Vandenbergh R, Hung WY, Bird T, Deng G, Mulder DW, Smyth C, Laing NG, Soriano E, Pericakvance MA, Haines J, Rouleau GA, Gusella JS, Horvitz HR, Brown RH (1993) Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis. Nature 362:59-62
32. Deng HX, Hentati A, Tainer JA, Iqbal Z, Cayabyab A, Hung WY, Getzoff ED, Hu P, Herzfeldt B, Roos RP, Warner C, Deng G, Soriano E, Smyth C, Parge HE, Ahmed A, Roses AD, Hallewell RA, Pericakvance MA, Siddique T (1993) Amyotrophic lateral sclerosis and structural defects in Cu, Zn superoxide dismutase. Science 261:1047-1051
33. Ikeda M, Abe K, Aoki M, Ogasawara M, Kameya T, Watanabe M, Shoji M, Hirai S, Itoyama Y (1995) A novel point mutation in the Cu/Zn superoxide dismutase gene in a patient with familial amyotrophic lateral sclerosis. Hum Mol Genet 4:491-492
34. Kostrzewa M, Burck-Lehmann U, Müller U (1994) Autosoinal dominant amyotrophic lateral sclerosis: a novel mutation in the Cu/Zn superoxide dismutase-1 gene. Hum Mol Genet 3:2261-2262
35. Borchelt DR, Lee MK, Slunt HS, Guarnieri M, Xu ZS, Wong PC, Brown RH, Jr., Price DL, Sisodia SS, Cleveland DW (1994) Superoxide dismutase I with mutations linked to familial amyotrophic lateral sclerosis possesses significant activity. Proc Natl Acad Sci USA 91:8292-8296
36. Gurney ME, Pu H, Chiu AY, Dal Canto MC, Polchow CY, Alexander DD, Caliendo J, Hentati A, Kwon YW, Deng H-X, Chen W, Zhai P, Sufit RL, Siddique T (1994) Motor neuron degeneration in mice that express a human Cu,Zn superoxide dismutase mutation. Science 264:1772-1775
37. Orita M, Iwahana H, Kanazawa H, Hayashi K, Sekiya T (1989) Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms. Proc Natl Acad Sci USA 86:2766-2770
38. Fischer SG, Lerman LS (1983) DNA fragments differing by single base-pair substitutions are separated in denaturing gradient gels: correspondence with melting theory. Proc Natl Acad Sci USA 80:1579-1583
39. Myers RM, Lumelsky N, Lerman LS, Maniatis T (1985) Detection of single base substitutions in total genomic DNA. Nature 313:495-498
40. Müller U, Warman ML, Mulliken JB, Weber JL (1993) Assignment of a gene locus involved in craniosynostosis to chromosome 5qter. Hum Mol Genet 2:119-122
41. Reardon W, Winter RM, Rutland P, Pulleyn LJ, Jones BM, Malcolm S (1994) Mutations in the fibroblast growth factor receptor 2 gene cause Crouzon syndrome. Nature Genet 8:98-103
42. Steinberger D, Mulliken JB, Müller U (1995) Predisposition for cysteine substitutions in the immunoglobulin-like chain of FGFR2 in Crouzon syndrome. Hum Genet 96:113-115
43. Wilkie AOM, Slaney SF, Oldridge M, Poole MD, Ashworth GJ, Hockley AD, Hayward RD, David DJ, Pulleyn LJ, Rutland P, Malcolm S, Winter RM, Reardon W (1995) Apert syndrome results from localized mutations of FGFR2 and is allelic with Crouzon syndrome. Nature Genet 9:165-172
44. Jabs EW, Li X, Scott AF, Meyers G, Chen W, Eccles M, Mao J, Charnas LR, Jackson CE, Jaye M (1994) Jackson-Weiss and Crouzon syndromes are allelic with mutations in the fibroblast growth factor receptor. Nature Genet 8:275-279
45. Lajeunie E, Ma HW, Bonaventure J, Munnich A, Le Merrer M, Renier D (1995) FGFR2 mutations in Pfeiffer syndrome. Nature Genet 9:108
46. Rutland P, Pulleyn LJ, Reardon W, Baraitser M, Hayward R, Jones B, Malcolm S, Winter RM, Oldridge M, Slaney SF, Poole MD, Wilkie AOM (1995) Identical mutations in the FGFR2 gene cause both Pfeiffer and Crouzon syndrome phenotypes. Nature Genet 9:173-176
47. Lu X, Perkins LA, Perrimon N (1993) The torso pathway in Drosophila: a model system to study receptor tyrosine kinase signal transduction. Development [Suppl]:47-56
48. Muenke M, Schell U, Hehr A, Robin NH, Losken HW, Schinzel A, Pulleyn LJ, Rutland P, Reardon W, Malcolm S, Winter RM (1994) A common mutation in the fibroblast growth factor receptor 1 gene in Pfeiffer syndrome. Nature Genet 8:269-274
49. Warman ML, Mulliken JB, Hayward PG, Müller U (1993) Newly recognized autosomal dominant disorder with craniosynostosis. Am J Med Genet 46:444-149
50. Jabs EW, Müller U, Li X, Ma L, Luo W, Haworth I, Klisak I, Sparkes R, Warman ML, Mulliken JB, Snead M, Maxson R (1993) A mutation in the homeodomain of the human MSX2 gene in a family affected with autosomal dominant craniosynostosis. Cell 75:443-450
51. Müller LJ, Kupke KG (1990) The genetics of primary torsion dystonia. Hum Genet 84:107-115
52. Ichinose H, Ohye T, Takahashi EI, Seki N, Hori T, Segawa M, Nomura Y, Endo K, Tunaka H, Tsuji S, Fujita K, Nagatsu T (1994) Hereditary progressive dystonia with marked diurnal fluctuation caused by mutations in the GTP cyclohydrolase I gene. Nature Genet 8:236-242
53. Nygaard TG, Wilhelmsen KC, Risch NJ, Brown DL, Trugman JM, Gilliam TC, Fahn S, Weeks DE (1993) Linkage mapping of doparesponsive dystonia (DRD) to chromosome 14q. Nature Genet 5:386-391
54. Schwalbe W (1908) Eine eigentümliche tonische Krampfform mit hysterischen Symptomen. Thesis, Schade, Berlin
55. Risch N, de Leon D, Ozelius L, Kramer P, Almasy L, Singer B, Fahn S, Breakefield X, Bressman S (1995) Genetic analysis of idiopathic torsion dystonia in Ashkenazi Jews and their recent descent from a small founder population. Nature Genet 9:152-159
56. Zeman W, Dyken P (1967) Dystonia musculorum deformans: clinical, genetic, and pathoanatomical studies. Psychiatr Neurol Neurochir 10:77-121
57. Ozelius L, Kramer PL, Moskowitz CB, Kwiatkowski DJ, Brin MF, Bressman SB, Schuback DE, Falk CT, Risch N, de Leon D, Burke RE, Haines J, Gusella JF, Fahn S, Breakefield XO (1989) Human gene for torsion dystonia located on chromosome 9q32-q34. Neuron 2:1427-1434
58. Kramer PL, Heiman GA, Gasser T, Ozelius LJ, de Leon D, Brin MF, Burke RE, Hewett J, Hunt AL, Moskowitz C, Nygaard TG, Wilhelmsen KC, Fahn S, Breakefield XO, Risch NJ, Bressman SB (1994) The DYT1 gene on 9q34 is responsible for most cases of early limb-onset idiopathic torsion dystonia in non-Jews. Am J Hum Genet 55:468-475
59. Ozelius LJ, Kramer PL, Deleon D, Risch N, Bressman SB, Schuback DE, Brin MF, Kwiatkowski DJ, Burke RE, Gusella JF, Fahn S, Breakefield XO (1992) Strong allelic association between the torsion dystonia gene (DYT1) and loci on chromosome 9q34 in Ashkenazi Jews. Am J Hum Genet 50:619-628
60. Kupke K, Lee LV, Viterbo GH, Arancillo J, Donlon TA, Müller U (1990) X-linked recessive torsion dystonia in the Philippines. Am J Med Genet 36:237-242
61. Lee LV, Kupke KG, Caballar-Gonzaga F, Hebron-Ortiz M, Müller U (1991) The phenotype of the X-linked dystoniaparkinsonism syndrome. An assessment of 42 cases in the Philippines. Medicine 70:179-187
62. Kupke KG, Graeber MB, Müller U (1992) Dystonia-parkinsonism syndrome (XDP) locus: flanking markers in Xq12q21.1. Am J Hum Genet 50:808-815
63. Graeber MB, Kupke KG, Müller U (1992) Delineation of the dystonia-parkinsonism syndrome (XDP) locus in Xq13. Proc Natl Acad Sci USA 89:8245-8248
64. Müller U, Haberhausen G, Wagner T, Fairweather N, Chelly J, Monaco AP (1994) DXS106 and DXS559 flank the X-linked dystonia-parkinsonism syndrome locus (DYT3). Genomics 23:114117
65. Haberhausen G, Schmitt I, Köhler A, Peters U, Rider S, Chelly J, Terwilliger ID, Monaco AP, Müller U (1995) Assignment of the dystonia-parkinsonism syndrome locus, DYT3, to a small region within a 1.8 Mb YAC contig of Xq13.1. Am J Hum Genet 57:644-650
66. Evans DA, Funkenstein HH, Albert MS, Scherr PA, Cook NR, Chown MJ, Hebert LE, Hennekens CH, Taylor JO (1989) Prevalence of Alzheimer's disease in a community population of older persons. Higher than previously reported. JAMA 262:2551-2556
67. Selkoe DJ (1991) Amyloid protein and Alzheimers disease. Sci Am 265:40-47
68. St. George-Hyslop PHS, Tanzi RE, Polinsky RJ, Haines JL, Nee L, Watkins PC, Myers RH, Feldman RG, Pollen D, Drachman D, Growdon J, Bruni A, Foncin JF, Salmon D, Frommelt P, Amaducci L, Sorri S, Piacentini S, Stewart GD, Hobbs WJ, Conneally PM, Gusella JF (1987) The genetic defect causing familial Alzheimer's disease maps on chromosome 21. Science 235:885-890
69. Chartier-Harlin MC, Crawford F, Houlden H, Warren A, Hughes D, Fidani L, Goate A, Rossor M, Roques P, Hardy J, Mullan M (1991) Early-onset Alzeimer's disease caused by mutations at codon 717 of the beta-amyloid precursor protein gene. Nature 353:844-846
70. Rosenberg RN (1993) A causal role for amyloid in Alzheimer's disease: the end of the beginning. Neurology 43:851-856
71. Tanzi RE, Vaula G, Romano DM, Mortilla M, Huang TL, Tupler RG, Wasco W, Hyman BT, Haines JL, Jenkins BJ, Kalaitsidaki M, Warren AC, McInnis MC, Antonarakis SE, Karlinsky H, Percy ME, Connor L, Growdon J, Crapper-Mclachlan DR, Gusella JF, St George-Hyslop PH (1992) Assessment of amyloid beta-protein precursor gene mutations in a large set of familial and sporadic Alzheimer disease cases. Am J Hum Genet 51:273-282
72. Liddell MB, Bayer AJ, Owen MJ (1995) No evidence that common allelic variation in the amyloid precursor protein (APP) gene confers susceptibility to Alzheimer's disease. Hum Mol Genet 4:853-858
73. Schellenberg GD, Bird TD, Wijsman EM, Orr HT, Anderson L, Nemens E, White JA, Bonnycastle L, Weber JL, Alonso ME, Potter H, Heston LL, Martin GM (1992) Genetic linkage evidence for a familial Alzheimer's disease locus on chromosome 14. Science 258:668-671
74. Alzheimer's disease collaborative group (1995) The structure of the presenilin 1 (S182) gene and identification of six novel mutations in early onset AD families. Nature Genet 11:219-222
75. Sherrington R, Rogaev EI, Liang Y, Rogaeva EA, Levesque G, Ikeda M, Chi H, Lin C, Li G, Holman K, Tsuda T, Mar L, Foncin JF, Bruni AC, Montesi MP, Sorbi S, Rainero I, Pinessi L, Nee L, Chumakov I, Pollen D, Brookes A, Sanseau P, Polinsky RJ, Wasco W, Da Silva HAR, Haines JL, Pericak-Vance MA, Tanzi RE, Roses AD, Fraser PE, Rommens JM, StGeorge-Hyslop PH (1995) Cloning of a gene bearing missense mutations in early-onset familial Alzheimer's disease. Nature 375:754-760
76. Levy-Lahad E, Wijsman EM, Nemens E, Anderson L, Goddard KAB, Weber JL, Bird TD, Schellenberg GD (1995) A familial Alzheimer's disease locus on chromosome I. Science 269:970-972
77. Levy-Lahad E, Wasco W, Poorkaj P, Romano DM, Oshima J, Pettingell WH, Yu C, Jondro PD, Schmidt SD, Wang K, Crowley AC, Fu Y-H, Guenette SY, Galas D, Nemens E, Wijsman EM, Bird TD, Schellenberg GD, Tanzi RE (1995) Candidate gene for the chromosome 1 familial Alzheimer's disease locus. Science 269:973-977
78. Pericak-Vance MA, Bebout JL, Gaskell PC, Yamaoka LH, Hung WY, Alberts MJ, Walker AP, Bartlett RJ, Haynes CA, Welsh KA, Earl NL, Heyman A, Clark CM, Roses AD (1991) Linkage studies in familial Alzheimer disease: evidence for chromosome 19 linkage. Am J Hum Genet 48:1034-1050
79. Corder EH, Saunders AM, Strittmatter WJ, Schmechel DE, Gaskell PC, Small GW, Roses AD, Haines JL, Pericak-Vance MA (1993) Gene dose of apolipoprotein-E type-4 allele and the risk of Alzheimer's disease in late onset families. Science 261:921923
80. Chartier-Harlin MC, Parfitt M, Legrain S, Perez-Tur J, Bousseau T, Evans A, Berr C, Vidal O, Roques P, Gourlet V, Fruchart JC, Delacourt A, Rossor M, Amouyel P (1994) Apolipoprotein E, 4 allele as a major risk factor for sporadic early and late-onset forms of Alzheimer's disease: analysis of the 19q13.2 chromosomal region. Hum Mol Genet 3:569-574
81. Kurz A, Lautenschlager N, Haupt M, Zimmer R, Altland K, von Thuelen B, Lauter H, Müller U (1994) Das Apolipoprotein-E- 4Allel ist ein Risikofaktor für die Alzheimer-Krankheit mit frühem und spätem Beginn. Nervenarzt 65:774-779
82. Müller U, Kurz A, Lauter H, Altland K (1995) Aktuelle Gesichtspunkte zur Genetik neurodegenerativer dementieller Erkrankungen. Tagungsband, Euromed Verlag (in press)
83. Kurz A, Altland A, Lautenschlager N, Haupt M, Zimmer R, Gerundt I, Lauter H, Müller U (1996) Apolipoprotein E type 4 allele: influence on the age of onset of Alzheimer's disease and use in clinical diagnosis and counselling. J Neurol (in press)
84. McKhann G, Drachman, D, Folstein M, Katzman R, Price D, Stadlan EM (1984) Clinical diagnosis of Alzheimer's disease: Report of the NINCDS-ADRDA Work Group under the auspices of the Department of Health and Human Services Task Force on Alzheimer's disease. Neurology 34:939-944
85. Breitner JCS (1991) Clinical genetics and genetic counseling in Alzheimer disease. Ann Int Med 115:601-606
86. Harper PS (1993) Practical genetic counselling, 4th edn. Butterworth Heinemann, Oxford
87. Golbe LI, Lazzarini AM, Schwarz KO, Mark MH, Dickson DW, Duvoisin RC (1993) Autosomal dominant parkinsonism with benign course and typical Lewy-body pathology. Neurology 43:2222-2227
88. Gasser T, Wszolek ZK, Trofatter J, Ozelius L, Uitti RJ, Lee CS, Gusella J, Pfeiffer RF, Calne DB, Breakefield XO (1994) Genetic linkage studies in autosomal-dominant parkinsonism: evaluation of seven candidate genes. Ann Neurol 36:387-396
89. Schapira AHV, Cooper JM, Dexter D, Jenner P, Clark JB, Marsden CD (1989) Mitochondrial complex I deficiency in Parkinson's disease. Lancet 1:1269
90. Mizuno Y, Ohta S, Tanaka M, Takamiya S, Suzuki K, Sato T, Oya H, Ozawa T, Kagawa Y (1989) Deficiencies in complex I subunits of the respiratory chain in Parkinson's disease. Biochem Biophys Res Commun 163:1450-1455
91. Janetzky B, Hauck S, Youdim MBH, Riederer P, Jellinger K, Pantucek F, Zöchling R, Boissl KW, Reichmann H (1994) Unaltered aconitase activity, but decreased complex I activity in substantia nigra pars compacta of patients with Parkinson's disease. Neurosci Lett 169:126-128
92. Mann VM, Cooper JM, Schapira AHV (1992) Quantitation of a mitochondrial DNA deletion in Parkinson's disease. FEBS Lett 299:218-222
93. Shoffner JM, Brown MD, Torroni A, Lott MT, Cabell MF, Mirra SS, Beal MF, Yang CC, Gearing M, Salvo R, Watts RL, Juncos JL, Hansen LA, Crain BJ, Fayad M, Reckord CL, Wallace DC (1993) Mitochondrial DNA variants observed in Alzheimer disease and Parkinson disease patients. Genomics 17:171-184
94. Lücking CB, Kösel S, Mehraein P, Graeber MB (1995) Absence of the mitochondrial A7237T mutation in Parkinson's disease. Biochem Biophys Res Commun 211:700-704
95. Armstrong M, Daly AK, Cholerton S, Bateman DN, Idle JR (1992) Mutant debrisoquine hydroxylation genes in Parkinson's disease. Lancet 339:1017-1018
96. Smith CAD, Gough AC, Leigh PN, Summers BA, Harding AE, Maranganore DM, Sturman SG, Schapira AHV, Williams AC, Spurr NK, Wolf CR (1992) Debrisoquine hydroxylase gene polymorphism and susceptibility to Parkinson's disease. Lancet 339:1375-1377
97. Tsuneoka Y, Matsuo Y, Iwahashi K, Takeuchi H, Ichikawa Y (1993) A novel cytochrome P-450IID6 mutant gene associated with Parkinson's disease. J Biochem 114:263-266
98. During MJ, Naegele JR, O'Malley KL, Geller AI (1994) Long-term behavioral recovery in Parkinsonian rats by an HSV vector expressing tyrosine hydroxylase. Science 266:1399-1403
99. Friedmann T (1994) Gene therapy for neurological disorders. Trends Genet 10:210-214
100. Wolff JA, Malone RW, Williams P, Chong W, Acsadi G, Jani A, Feigner PL (1990) Direct gene transfer into mouse muscle in vivo. Science 247:1465-1468
101. Hengge UR, Chan EF, Foster RA, Walker PS, Vogel JC (1995) Cytokine gene expression in epidermis with biological effects following injection of naked DNA. Nature Genet 10:161-166
102. Fischer W, Wictorin K, Bjorklund A, Williams LR, Varon S, Gage FH (1987) Amelioration of cholinergic neuron atrophy and spatial memory impairment in aged rats by nerve growth factor. Nature 329:65-68
103. Sendtner M, Holtmann B, Kolbeck R, Thönen H, Barde YA (1992) Brain-derived neurotrophic factor prevents the death of motoneurons in newborn rats after nerve section. Nature 360:757-758
104. Ernfors P, Ebendal T, Olson L, Mouton P, Stromberg I, Persson H (1989) A cell line producing recombinant nerve growth factor evokes growth responses in intrinsic and grafted central cholinergic neurons. Proc Natl Acad Sci USA 86:4756-4760
105. Suhr ST, Gage FH (1993) Gene therapy for neurologic disease. Arch Neurol 50:1252-1268
106. LaFerla FM, Tinkle BT, Bieberich CJ, Haudenschild CC, Jay G (1995) The Alzheimer's A β-peptide induces neurodegeneration and apoptotic cell death in transgenic mice. Nature Genet 9:2130
107. Games D, Adams D, Alessandrini R, Barbour R, Berthelette P, Blackwell C, Carr T, Clemens J, Donaldson T, Gillespie F, Guido T, Hagopian S, Johnson-Wood K, Khan K, Lee M, Leibowitz P, Lieberburg I, Little S, Masliah E, Mcconlogue L, Montoya-Zavala M, Mucke L, Paganini L, Penniman E, Power M, Schenk D, Seubert P, Snyder B, Soriano F, Tan H, Vitale J, Wadsworth S, Wolozin B, Zhao J (1995) Alzheimer-type neuropathology in transgenic mice overexpressing V717F-amyloid precursor protein. Nature 373:523-527
108. Wolff JA, Fisher LJ, Xu L, Jinnah HA, Langlais PJ, Iuvone PM, O'Malley KL, Rosenberg MB, Shimohama S, Friedmann T, Gage FH (1989) Grafting fibroblasts genetically modified to produce L-dopa in a rat model of Parkinson disease. Proc Natl Acad Sci USA 86:9011-9014
109. Jiao S, Gurevich V, Wolff JA (1993) Long-term correction of rat model of Parkinson's disease by gene therapy. Nature 362:450-453
110. McKusick VA (1995) Online mendelian inheritance in man. Johns Hopkins University Press, Baltimore