Genetics of prevalent neurodegenerative disorders;Genética de las enfermedades neurodegenerativas más prevalentes

Medicina Clinica

Volumn 126, Issue 17, 2006, Pages 662-670

  Lladó, Albert ^a   Gaig, Carles ^a   Molinuevo, José L ^a  

^a HOSPITAL CLÍNIC   (Spain)

Author keywords

Alzheimer's disease; Frontotemporal dementia; Genetics; Parkinson's disease

Indexed keywords

GAMMA SECRETASE; LEUCINE; PRESENILIN 1; PRESENILIN 2; TAU PROTEIN;

ALZHEIMER DISEASE; CHROMOSOME 17; CLINICAL FEATURE; DEGENERATIVE DISEASE; DISEASE COURSE; FAMILIAL AMYLOIDOSIS; FRONTOTEMPORAL DEMENTIA; GENE MUTATION; GENETIC PREDISPOSITION; HUMAN; HUNTINGTON CHOREA; PARKINSON DISEASE; PARKINSONISM; PREVALENCE; REVIEW;

EID: 33745113449     PISSN: 00257753     EISSN: None     Source Type: Journal    
DOI: 10.1157/13087844     Document Type: Review

References (104)

1. Gusella JF, Wexler NS, Conneally PM, Naylor SL, Anderson MA, Tanzi RE, et al. A polymorphic DNA marker genetically linked to Huntington's disease. Nature. 1983;306:234-8.
2. DiFiglia M, Sapp E, Chase KO. Huntingtin is a cytoplasmic protein associated with vesicles in human and rat brain neurons. Neuron. 1995; 14:1075-81.
3. Huntington's Disease Collaborative Research Group. A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntinton's disease chromosomes. Cell. 1993;72:971-83.
4. Goldberg YP, Kremer B, Andrew SE, Theilmann J, Graham RK, Squitieri F, et al. Molecular analysis of new mutations for Huntington's disease: intermediate alleles and sex of origin effects. Nat Genet. 1993;5: 174-9.
5. Chong SS, Almqvist E, Telenius H, LaTray L, Nichol K, Bourdelat-Parks B, et al. Contribution of DNA sequence and CAG size to mutation frequencies of intermediate alleles for Huntington disease: evidence from single sperm analyses. Hum Mol Genet. 1997;6:301-9.
6. Brinkman RR, Mezei MM, Thielman J, Almqvist E, Hayden MR. The likelihood of being affected with Huntington's disease by a particular age for a specific CAG size. Am J Hum Genet. 1997;60:1202-10.
7. Rosenblatt A, Brinkman RR, Liang KY, Almqvist EW, Margolis RL, Huang CY, et al. Familial influence on age of onset among siblings with Huntington disease. Med Genet. 2001;105:399-403.
8. MacDonald ME, Vonsattel JP, Shrinidhi J, Couropmitree NN, Cupples LA, Bird ED, et al. Evidence for the GluR6 gene associated with younger onset age of Huntington's disease. Neurology. 1999;53:1164-5.
9. Lawson K, Wiggins S, Green T, Adam S, Bloch M, Hayden MR. Adverse psychological events ocurring in the first year after predictive testing for Huntington's disease. J Med Genet. 1996;33:856-62.
10. Wiggins S, Whyte P, Huggins M, Theilmann J, Bloch M, Sheps SB, et al. The psychological consequences of predictive testing for Huntington's disease. N Engl J Med. 1992;327:1401-5.
11. Solís-Pérez MP, Burguera JA, Palau F, Livianos L, Vila M, Rojo L. Resultados de un programa de diagnóstico presintomático en la enfermedad de Huntington: evaluación de un periodo de 6 años. Neurología. 2001;16:348-52.
12. Glenner GG, Wong CW. Alzheimer's disease and Down's syndrome: sharing of a unique cerebrovascular amyloid fibril protein. Biochem Biophys Res Commun. 1984;122:1131-5.
13. Tanzi RE, Bertram L. Twenty years of the Alzheimer's disease amyloid hypothesis: a genetic perspective. Cell. 2005;120:545-55.
14. Scheuner D, Eckman C, Jensen M, Song X, Citron M, Suzuki N, et al. Secreted amyloid beta-protein similar to that in the senile plaques of Alzheimer's disease is increased in vivo by the presenilin 1 and 2 and APP mutations linked to familial Alzheimer's disease. Nat Med. 1996;2:864-70.
15. Tanzi RE, Gusella JF, Watkins PC, Bruns GA, St. George-Hyslop P, Van Keuren ML, et al. Amyloid β protein gene: cDNA, mRNA distribution, and genetic linkage near the Alzheimer locus. Science. 1987;235:880-4.
16. Haan J, Lanser JB, Zijderveld I, Van der Does IG, Roos RA. Dementia in hereditary cerebral hemorrhage with amyloidosis-Dutch type. Arch Neurol. 1990;47:965-7.
17. Goate A, Chartier-Harlin MC, Mullan M, Brown J, Crawford F, Fidabi L, et al. Segregation of a missense mutation in the amyloid precursor protein gene with familial Alzheimer's disease. Nature. 1991;349:704-6.
18. Alzheimer Disease & Frontotemporal Dementia Mutation Database. Disponible en: hhtp://www.molgen.ua.ac.be/admutacions/
19. Campion D, Dumanchin C, Hannequin D, Dubois B, Belliard S, Puel M, et al. Early-onset autosomal dominant Alzheimer disease: prevalence, genetic heterogeneity, and mutation spectrum. Am J Hum Genet. 1999;65:664-70.
20. Schellenberg GD, Bird TD, Wijsman EM, Orr HT, Anderson L, Nemens E, et al. Genetic linkage evidence for a familial Alzheimer's disease locus on chromosome 14. Science. 1992;258:668-71.
21. Sherrington R, Rogaev EI, Liang Y, Rogaeva EA, Levesque G, Ikeda M, et al. Cloning of a gene bearing missense mutations in early-onset familial Alzheimer's disease. Nature. 1995;375:754-60.
22. Rogaev EI, Sherrington R, Rogaeva EA, Levesque G, Ikeda M, Liang Y, et al. Familial Alzheimer's disease in kindreds with missense mutations in a gene on chromosome 1 related to the Alzheimer's disease type 3 gene. Nature. 1995;376:775-8.
23. Lleó A, Blesa R, Queralt R, Ezquerra M, Molinuelo JL, Peña-Casanova J, et al. Frequency of mutacions in the presenilin and amyloid precursor protein genes in early-onset Alzheimer disease in Spain. Arch Neurol. 2002;59:1759-63.
24. Gustafson L, Brun A, Englund E, Hagnell O, Nilsson K, Stensmyr M, et al. A 50-year perspective of a family with chromosome-14-linked Alzheimer's disease. Hum Genet. 1998;102:253-7.
25. Ataka S, Tomiyama T, Takuma H, Yamashita T, Shimada H, Tsutada T et al. A novel presenilin-1 mutation (Leu85Pro) in early-onset Alzheimer disease with spastic paraparesis. Arch Neurol. 2004;61:1773-6.
26. Jiménez-Escrig A, Rabano A, Guerrero C, Simón J, Barquero MS, Güell I, et al. New V272A presenilin 1 mutation with very early onset subcortical dementia and parkinsonism. Eur J Neurol. 2004;11:663-9.
27. Queralt R, Ezquerra M, Lleo A, Castellví M, Gelpi J, Ferrer I, et al. A novel mutation (V89L) in the presenilin 1 gene in a family with early onset Alzheimer's disease and marked behavioural disturbances. J Neurol Neurosurg Psychiatry. 2002;72:266-9.
28. Bird TD, Levy-Lahad E, Poorkaj P, Sharma V, Nemens E, Lahad A, et al. Wide range in age of onset for chromosome 1 - related familial Alzheimer's disease. Ann Neurol. 1996;4:932-6.
29. Molinuevo JL, Pintor L, Peri JM, Lleó A, Oliva R, Marcos T, et al. Emotional reactions to predictive testing in Alzheimer's disease and other inherited dementias. Am J Alz Dis. 2005;20:233-8.
30. Alzhemier's Disease Collaborative Group, 1993. Apolipoprotein E genotype and Alzheimer's disease. Lancet. 1993;342:737-8.
31. Corder EH, Saunders AM, Strittmatter WJ, Schmechel DE, Gaskell PC, Small GW, et al. Gene dose of apolipoprotein E type 4 allele and the risk of Alzheimer's disease in late onset families. Science. 1993;261:921-3.
32. Blacker D, Haines JL, Rodes L, Terwedow H, Go RC, Harrel LE, et al. ApoE-4 and age at onset of Alzheimer's disease. The NIMH genetics initiative. Neurology. 1997;48:139-47.
33. Mayeux R, Saunders AM, Shea S, Mirra S, Evans D, Roses A, et al. Utility of the apolipoprotein E genotype in the diagnosis of Alzheimer's disease. N Engl J Med. 1998;338:506-11.
34. Kamboh MI. Molecular genetics of late-onset Alzheimer disease. Ann Hum Genet. 2004;68:381-404.
35. Bertram L, Hiltunen M, Parkinson M, Ingelsson M, Lange C, Ramasamy K, et al. Family-based association between Alzheimer's disease and variants in UBQLIN1. N Engl J Med. 2005;352:884-94.
36. Work Group on Frontotemporal Dementia and Pick's Disease. Clinical and pathological diagnosis of frontotemporal dementia. Arch Neurol. 2001;58:1803-9.
37. Jackson M, Lowe J. The new neuropathology of degenerative frontotemporal dementias. Acta Neuropathol. 1996;91:127-34.
38. Lynch T, Sano M, Marder KS, Bell KL, Foster NL, Defendini RF, et al. Clinical characteristics of a family with chromosome 17-linked disinhibition-dementia-parkinsonism-amyotrophy complex. Neurology. 1994; 44:1878-84.
39. Stanford PM, Brooks WS, Teber ET, Hallupp M, McLean C, Halliday GM, et al. Frequency of tau mutations in familial and sporadic frontotemporal dementia and other taupathies. J Neurol. 2004;251:1098-104.
40. Ashworth A, Lloyd S, Brown J, Gydesen S, Sorensen SA, Brun A, et al. Molecular genetic characterisation of frontotemporal dementia on chromosome 3. Dement Geriatr Cogn Disord. 1999;10 Suppl 1:93-101.
41. Kovach MJ, Waggoner B, Leal SM, Gelber D, Khardori R, Levenst MA, et al. Clinical delineation and localization to chromosome 9p13.3 of a unique dominant disorder in four families: hereditary inclusion body myopathy, Paget disease of bone, and frontotemporal dementia. Mol Genet Metab. 2001;74:458-75.
42. Schröder R, Watts GDJ, Mehta SG, Evert BO, Broich P, Flierbach K, et al. Mutant valosin-containing protein causes a novel type of frontotemporal dementia. Ann Neurol. 2005;57:457-61.
43. Dermaut B, Kumar-Singh S, Engelborghs S, Theuns J, Rademakers R, Saerens J, et al. A novel presenilin 1 mutation associated with Pick's disease but not β-amyloid plaques. Ann Neurol. 2004;55:617-26.
44. De Rijk MC, Breteler MMB, Graveland GA, Ott A, Grobbee DE, Van der Mecge FG, et al. Prevalence of Parkinson's disease in the elderly: the Rotterdam study. Neurology. 1995;45:2143-6.
45. Spillantini MG, Schmidt ML, Lee VMY, Trojanowski JQ, Jakes R, Goedert M. Alpha-synuclein in Lewy bodies. Nature. 1997;388:839-40.
46. Payami H, Larsen K, Bernard S, Nutt J. Increased risk of Parkinson's disease in parents and siblings of patients. Ann Neurol. 1994;36:659-61.
47. Bonifati V, Fabrizio E, Vanacore N, De Mari M, Meco G. Familial Parkinson's disease: a clinical genetic analysis. Can J Neurol Sci. 1995; 22:272-9.
48. Huang Y, Cheung L, Rowe D, Halliday G. Genetic contributions to Parkinson's disease. Brain Res Rev. 2004;46:44-70.
49. Lee VMY, Goedert M, Trojanoswky JQ. Neurodegenerative tauopathies. Annu Rev Neurosci. 2001;24:1121-59.
50. Healy DG, Abou-Sleiman PM, Wood NW. PINK, PANK or PARK? A clinician's guide to familial parkinsonism. Lancet Neurol. 2004;3:652-62.
51. Paisán-Ruiz C, Jain S, Evans EW, Gilks WP, Simon J, Van der Brug M, et al. Cloning of the gene containing mutations that cause PARK8-linked Parkinson's disease. Neuron. 2004;44:595-600.
52. Zimprich A, Biskup S, Leitner P, Lichtner P, Farrer M, Lincoln S, et al. Mutations in LRRK2 cause autosomal-dominant parkinsonism with pleomorphic pathology. Neuron. 2004;44:601-7.
53. Golbe LI, Di Iorio G, Bonavita V, Millar DC, Duvoisin RC. A large kindred with autosomal dominant Parkinson's disease. Ann Neurol. 1990; 27:276-82.
54. Polymeropoulos MH, Lavedan C, Leroy E, Ide SE, Dehejia A, Outra A, et al. Mutation in the alpha-synuclein gene identified in families with Parkinson's disease. Science. 1997;276:2045-7.
55. Chan P, Tanner CM, Jiang X, Langston JW. Failure to find the alpha-synuclein gene missense mutation (G209A) in 100 patients with younger onset Parkinson' disease. Neurology. 1998;50:513-4.
56. Vaughan J, Durr A, Tassin J, Bereznai B, Gasser T, Bonifati V, et al. The alpha-synuclein Ala53Thr mutation is not a common cause of familial Parkinson' disease: a study of 230 European cases. European Consortium on Genetic Susceptibility in Parkinson's disease. Ann Neurol. 1998;44:270-3.
57. Krüger R, Kuhn W, Muller T, Woitlla D, Graeber M, Kösel S, et al. Ala30Pro mutation in the gene encoding alpha-synuclein in Parkinson's disease. Nat Genet. 1998;18:106-8.
58. Zarranz JJ, Alegre J, Gómez-Esteban JC, Lezcano E, Ros R, Ampuero I, et al. The new mutation, E46K, of α-synuclein causes Parkinson and Lewy body dementia. Ann Neurol. 2004;55:164-73.
59. Singleton AB, Farrer M, Johnson J, Singleton A, Hague S, Kachergus J, et al. Alpha-synuclein locus triplication causes Parkinson's disease. Science. 2003;302:841.
60. Ibáñez P, Bonnet AM, Débarges B, Lohmann E, Tison F, Pollak P, et al. Causal relation between alpha-synuclein gene duplication and familial Parkinson's disease. Lancet. 2004;364:1169-71.
61. Chartier-Harlin MC, Kachergus J, Roumier C, Mouraux V, Douay X, Lincoln S, et al. Alpha-synuclein locus duplication as a cause of familial Parkinson's disease. Lancet. 2004;364:1167-9.
62. Gispert S, Trenkwalder C, Mota-Vieira L, Kostic V, Auburger G. Failure to find alpha-synuclein gene dosage changes in 190 patients with familial Parkinson disease. Arch Neurol. 2005;62:96-8.
63. Kitada T, Asakawa S, Hattori N, Matsumine H, Yamamura Y, MinoshimaS, et al. Mutations in the parkin gene cause autosomal recessive juvenile parkinsonism. Nature. 1998;392:605-8.
64. Lucking CB, Abbas N, Durr A, Bonifati V, Bonnet AM, De Broucker T, et al. Homozygous deletion in parkin gene in European and North African families for autosomal recesivejuvenile parkinsonism. Lancet. 1998;352:1355-6.
65. Von Coelln R, Dawson VL, Dawson TM. Parkin-associated Parkinson's disease. Cell Tissue Res. 2004;318:175-84.
66. Hedrich K, Eskelson C, Wilmot B, Marder K, Harris J, Garrels J, et al. Distribution, type, and origin of Parkin mutations: review and case studies. Mov Disord. 2004;19:1146-57.
67. Cookson MR. Parkin's substrate and the pathways leading to neuronal damage. Neuromolecular Med. 2003;3:1-13.
68. Mori H, Kondo T, Yokochi M, Matsumine H, Nakagawa-Hattori Y, Miyake T, et al. Pathological and biochemical studies of juvenile parkinsonism linked to chromosome 6q. Neurology. 1998;51:890-2.
69. Schlossmacher MG, Frosch MP, Gai WP, Medina M, Sharma N, Forno L, et al. Parkin localizes to the Lewy bodies of Parkinson disease and dementia with Lewy bodies. Am J Pathol. 2002;160:1655-67.
70. Lucking CB, Durr A, Bonifati V, Vaughan J, De Michele G, Gasser T, et al. Association between early-onset Parkinson's disease and mutations in the parkin gene. French Parkinson's Disease Genetics Study Group. N Engl J Med. 2000;342:1560-7.
71. Periquet M, Latouche M, Lohmann E, Rawal N, De Michele G, Ricard S, et al. Parkin mutations are frequent in patients with isolated early-onset parkinsonism. Brain. 2003;126:1271-8.
72. Muñoz E, Pastor P, Martĩ MJ, Oviva R, Tolosa E. A new mutation in the Parkin gene in a patient with atypical autosomal recessive juvenile parkinsonism. Neurosci Lett. 2000;289:66-8.
73. Oliveira SA, Scott WK, Martin ER, Nance MA, Watts RL, Hubbe JP, et al. Parkin mutations and susceptibility alleles in late-onset Parkinson's disease. Ann Neurol. 2003;53:624-9.
74. Farrer M, Chan P, Chen R, Tan L, Lincoln S, Hernández D, et al. Lewy bodies and parkinsonism in families with parkin mutations. Ann Neurol. 2001;50:293-300.
75. Leroy E, Boyer R, Auburger G, Leube B, Ulm G, Mezey E, et al. The ubiquitin pathway in Parkinson's disease. Nature. 1998;395:451-2.
76. Harhangi BS, Farrer MJ, Lincoln S, Bonifati V, Meco G, De Michele G, et al. The Ile93Met mutation in the ubiquitin carboxy-terminal-hydrolase-L1 gene is not observed in European cases with familial Parkinson's disease. Neurosci Lett. 1999;270:1-4.
77. Maraganore DM, Farrer MJ, Hardy JA, Lincoln SJ, McDonnell SK, Rocca WA. Case-control study of the ubiquitin carboxy-terminal hydrolase L1 gene in Parkinson's disease. Neurology. 1999;53:1858-60.
78. Bonifati V, Rizzu P, Van Baren MJ, Schaap O, Breedveld GJ, Krieger E, et al. Mutations in the DJ-1 gene associated with autosomal recessive early-onset parkinsonism. Science. 2003;299:256-9.
79. Valente EM, Abou-Sleiman PM, Caputo V, Muqit MM, Harvey K, Gispert S, et al. Hereditary early onset Parkinson's disease is caused by mutations in PINK1. Science. 2004;304:1158-60.
80. Taira T, Saito Y, Niki T, Iguchi-Ariga SM, Takahashi K, Ariga H. DJ-1 has a role in antioxidative stress to prevent cell death. EMBO Rep. 2004;5:213-8.
81. Abou-Sleiman PM, Healy DG, Wood NW. Causes of Parkinson's disease: genetics of DJ-1. Cell Tissue Res. 2004;3:185-8.
82. Hedrich K, Djarmati A, Schafer N, Hering R, Wellenbrock C, Weiss PH, et al. DJ-1 (PARK7) mutations are less frequent than Parkin (PARK2) mutations in early-onset Parkinson disease. Neurology. 2004;62:389-4.
83. Tan EK, Tan C, Zhao Y, Yew K, Shen H, Chandran VR, et al. Genetic analysis of DJ-1 in a cohort Parkinson's disease patients of different ethnicity. Neurosci Lett. 2004;367:109-12.
84. Valente EM, Salvi S, Ialongo T, Marongiu R, Elia AE, Caputo V, et al. PINK1 mutations are associated with sporadic early-onset parkinsonism. Ann Neurol. 2004;56:336-41.
85. Rohe CF, Montagna P, Breedveld G, Cortelli P, Oostra BA, Bonifati V. Homozygous PINK1 C-terminus mutation causing early-onset parkinsonism. Ann Neurol. 2004;56:427-31.
86. Healy DG, Abou-Sleiman PM, Gibson JM, Ross OA, Jain S, Gandhi S, et al. PINK1 (PARK6) associated Parkinson disease in Ireland. Neurology. 2004;63:1486-8.
87. Rogaeva E, Johnson J, Lang AE, Gulick C, Gwinn-Hardy K, Kawarai T, et al. Analysis of the PINK1 gene in a large cohort of cases with Parkinson disease. Arch Neurol. 2004;61:1898-904.
88. Paisán-Ruiz C, Sáenz A, López de Munain A, Martí I, Martínez Gil A, Martí Massó JF, et al. Familial Parkinson's disease: clinical and genetic analysis of four Basque families. Ann Neurol. 2005;57:365-72.
89. Wszolek ZK, Pfeiffer RF, Tsuboi Y, Uitti RJ, McComb RD, Stoessl AJ, et al. Autosomal dominant parkinsonism associated with variable synuclein and tau pathology. Neurology. 2004;62:1619-22.
90. Di Fonzo A, Rohe CF, Ferreira J, Chien HF, Vacca L, Stocchi F, et al. A frequent LRRK2 gene mutation associated with autosomal dominant Parkinson's disease. Lancet. 2005;365:412-5.
91. Nichols WC, Pankratz N, Hernández D, Paisán-Ruiz C, Jain S, Halter CA, et al. Genetic screening for a single common LRRK2 mutation in familial Parkinson's disease. Lancet. 2005;365:410-2.
92. Hicks AA, Petursson H, Jonsson T, Stefansson H, Johannsdottir HS, Sainz J, et al. A susceptibility gene for late-onset idiopathic Parkinson's disease. Ann. Neurol. 2002;52:549-55.
93. Pankratz N, Nichols WC, Uniacke SK, Halter C, Rudolph A, Shults C, et al. Significant linkage of Parkinson disease to chromosome 2q36-37. Am J Hum Genet. 2003;72:1053-7.
94. Gasser T, Muller-Myhsok B, Wszolek ZK, Oehlmann R, Calne DB, Bonifati V, et al. A susceptibility locus for Parkinson's disease maps to chromosome 2p13. Nat Genet. 1998;18:262-5.
95. Pastor P, Pastor E, Carnero C, Vela R, García T, Amer G, et al. Familial atypical progressive supranuclear palsy associated with homozigosity for the delN296 mutation in the tau gene. Ann Neurol. 2001;49:263-7.
96. Spillantini MG, Yoshida H, Rizzini C, Lantos PL, Khan N, Rossor MN, et al. A novel tau mutation (N296N) in familial dementia with swollen achromatic neurons and corticobasal inclusion bodies. Ann Neurol. 2000;48:939-43.
97. Morris HR, Osaki Y, Holton J, Lees AJ, Wood NW, Revesz T, et al. Tau exon 10+16 mutation FTDP-17 presenting clinically as sporadic young onset PSP. Neurology. 2003;61:102-4.
98. Brown J, Lantos P, Stratton M, Roques P, Rossor M. Familial progressive supranuclear palsy. J Neurol Neurosurg Psychiatry. 1993;53:473-6.
99. Rojo A, Pernaute RS, Fontan A, Ruiz PG, Honnorat J, Lynch T, et al. Clinical genetics of familial progressive supranuclear palsy. Brain. 1999;122:1233-45.
100. Conrad C, Andreadis A, Trojanowsky JQ, Dickson DW, Kang D, Chen X, et al. Genetic evidence for the involvement of τ in progressive supranuclear palsy. Ann Neurol. 1997;41:277-81.
101. Houlden H, Baker M, Morris HR, MacDonald N, Pickering-Brown S, Adamson J, et al. Corticobasal degeneration and progressive supranuclear palsy share a common tau haplotype. Neurology. 2001;56:1702-6.
102. Molinuevo JL, Valldeoriola F, Alegret M, Oliva R, Tolosa E. Earlier age of onset in patients with progressive supranuclear palsy presenting the tau protein A0/A0 genotype. J Neurol. 2000;247:206-8.
103. Pastor P, Ezquerra M, Pérez C, Chakraverty S, Norton J, Tolosa E, et al. Haplotype structure of the 17q21 region in sporadic tauopathies. Ann Neurol. 2004;56:249-58.
104. Ros R, Gómez Garre P, Hirano M, Tai YF, Ampuero I, Vidal L, et al. Genetic Linkage of autosomal dominant progressive supranuclear palsy to 1q31.1. Ann Neurol. 2005;57:634-41