Molecular genetic characterisation of frontotemporal dementia on chromosome 3

Dementia and Geriatric Cognitive Disorders

Volumn 10, Issue SUPPL. 1, 1999, Pages 93-101

  Ashworth, Anthony ^a   Lloyd, Sarah ^a   Brown, Jeremy ^b   Gydesen, Susanne ^h   Sorensen, S Asger ^h   Brun, Arne ^c   Englund, Elisabet ^c   Humphreys, Christine ^a   Housman, David ^d   Badura, Mary ^d   Stanton Jr , Vincent ^d   Taylor, Kay ^h   Cameron, Jessica ^h   Munroe, David ^e   Johansson, Jenni ^f   Rossor, Martin ^g   Fisher, Elizabeth M C ^a   Collinge, John ^a,g  

^a IMPERIAL COLLEGE SCHOOL OF MEDICINE   (United Kingdom)

^b ADDENBROOKE S HOSPITAL   (United Kingdom)

^c LUND UNIVERSITY HOSPITAL   (Sweden)

^d MASSACHUSETTS INSTITUTE OF TECHNOLOGY   (United States)

^e CELERA   (United States)

^f UMEÅ UNIVERSITY HOSPITAL   (Sweden)

^g ST MARY S HOSPITAL   (United Kingdom)

^h NONE

Author keywords

Anticipation; Familial nonspecific dementia; Frontal lobe dementia; Trinucleotide repeat

Indexed keywords

ANTICIPATION; ARTICLE; CENTROMERE; CHROMOSOME 3; DENMARK; FRONTOTEMPORAL DEMENTIA; GENE LOCUS; HUMAN; MOLECULAR GENETICS; PEDIGREE; PRIORITY JOURNAL; TRINUCLEOTIDE REPEAT;

ADULT; CHILD; CHROMOSOMES, HUMAN, PAIR 3; COSMIDS; DEMENTIA; DENMARK; DISEASE PROGRESSION; DNA FINGERPRINTING; FRONTAL LOBE; HUMANS; IMMUNOHISTOCHEMISTRY; LINKAGE (GENETICS); PEDIGREE; TEMPORAL LOBE; TRINUCLEOTIDE REPEATS;

EID: 0032784090     PISSN: 14208008     EISSN: None     Source Type: Journal    
DOI: 10.1159/000051222     Document Type: Article

References (40)

1. Knopman DS, Mastri AR, Frey WH, Sung JH, Rushtan T: Dementia lacking distinctive histologic features: A common non-Alzheimer degenerative dementia. Neurology 1990;40:251-256.
2. Neary D, Snowden JS, Northen B, Goulding P: Dementia of frontal lobe type. J Neurol Neurosurg Psychiatry 1988;51:353-361.
3. The Lund and Manchester Groups: Clinical and neuropathological criteria for frontotemporal dementia. J Neurol Neurosurg Psychiatry 1994;57:416-418.
4. Zoghbi HY: Principles of Child Neurology. New York, McGraw-Hill, 1996, pp 1543-1561.
5. Hardy J, Gwinn-Hardy K: Genetic classification of primary neurodegenerative disease. Science 1998;282:1075-1079.
6. 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;55:1159-1165.
7. Ashworth A, Brown J, Gydesen S, Sorensen SA, Rossor MN, Hardy J, Collinge J: Frontal lobe or 'nonspecific' dementias are genetically heterogeneous. Neurology 1995;45:1781.
8. Foster NL, Wilhelmsen K, Sima AA, Jones MZ, D'Amato CJ, Gilman S: Frontotemporal dementia and parkinsonism linked to chromosome 17: A consensus conference. Conference participants. Ann Neurol 1997;41:706-715.
9. Froelich S, Basun H, Forsell C, Lilius L, Axelman K, Andreadis A, Lannfelt L: Mapping of a disease locus for familial rapidly progressive frontotemporal dementia to chromosome 17q12-21. Am J Med Genet 1997;74:380-385.
10. Murrell JR, Koller D, Foroud T, Goedert M, Spillantini MG, Edenberg HJ, Farlow MR, Ghetti B: Familial multiple-system tauopathy with presenile dementia is localized to chromosome 17. Am J Hum Genet 1997;61:1131-1138.
11. Spillantini MG, Murrell JR, Goedert M, Farlow MR, Klug A, Ghetti B: Mutation in the tau gene in familial multiple system tauopathy with presenile dementia. Proc Natl Acad Sci USA 1998;95:7737-7741.
12. Hutton M, Lendon C, Rizzu P, Baker M, Froelich S, Houlden H, Pickering-Brown S, Chakraverty S, Isaacs A, Grover A, Hackett J, Adamson J, Lincoln S, Dickson D, Davies P, Petersen RC, Stevens M, de Graaf E, Wauters E, van Baren J, Hillebrand M, Joosse M, Kwon JM, Nowotny P, Che KL, Norton J, Morris JC, Reed LA, Trojanowski J, Basun H, Lannfelt L, Neystat M, Fahn S, Dark F, Tannenberg T, Dodd PR, Hayward N, Kwok JBJ, Schofield PR, Andreadis A, Swowden J, Craufurd D, Neary D, Owen F, Oostra BA, Hardy J, Goate A, van Swieten J, Mann D, Lynch T, Heutink P: Association of missense and 5′-splice-site mutations in tau with the inherited dementia FTDP-17. Nature 1998;393:702-705.
13. Verkerk AJ, Pieretti M, Sutcliffe JS, Fu YH, Kuhl DP, Pizzuti A, Reiner O, Richards S, Victoria MF, Zhang FP, Eussen EU, van Ommen GB, Blonden LAJ, Riggins GJ, Chastain JL, Kunst CB, Galjaard H, Caskey CT, Nelson DL, Oostra BA, Warren ST: Identification of a gene (FMR-I) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome. Cell 1991;65:905-914.
14. Brook JD, McCurrach ME, Harley HG, Buckler AJ, Church D, Aburatani H, Hunter K, Stanton VP, Thirion JP, Hudson T, Sohn R, Zemelman B, Snell RG, Rundle SA, Crow S, Davies J, Shelbourne P, Buxton J, Jones C, Juvonen V, Johnson K, Harper PS, Shaw DJ, Housman DE: Molecular basis of myotonic dystrophy: Expansion of a trinucleotide (CTG) repeat at the 3′ end of a transcript encoding a protein kinase family member. Cell 1992;68: 799-808.
15. Campuzano V, Montermini L, Lutz Y, Cova L, Hindelang C, Jiralerspong S, Trottier Y, Kish SJ, Faucheux B, Trouillas P, Authier FJ, Durr A, Mandel JL, Vescovi A, Pandolfo M, Koenig M: Frataxin is reduced in Friedreich ataxia patients and is associated with mitochondrial membranes. Hum Mol Genet 1997;6:1771-1780.
16. 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;72:971-983.
17. Ross CA: When more is less: Pathogenesis of glutamine repeat neurodegenerative diseases. Neuron 1995;15:493-496.
18. Schalling M, Hudson TJ, Buetow KH, Housman DE: Direct detection of novel expanded trinucleotide repeats in the human genome. Nat Genet 1993;4:135-139.
19. Davies SW, Turmaine M, Cozens BA, DiFiglia M, Sharp AH, Ross CA, Scherzinger E, Wanker EE, Mangiarini L, Bates GP: Formation of neuronal intranuclear inclusions underlies the neurological dysfunction in mice transgenic for the HD mutation. Cell 1997;90:537-548.
20. DiFiglia M, Sapp E, Chase KO, Davies SW, Bates GP, Vonsattel JP, Aronin N: Aggregation of huntingtin in neuronal intranuclear inclusions and dystrophic neuntes in brain. Science 1997;277:1990-1993.
21. Skinner PJ, Koshy BT, Cummings CJ, Klement IA, Helin K, Servadio A, Zoghbi HY, Orr HT: Ataxin-1 with an expanded glutamine tract alters nuclear matrix-associated structures. Nature 1997;389:971-974.
22. Brown J, Ashworth A, Gydesen S, Sorensen A, Rossor M, Hardy J, Collinge J: Familial non-specific dementia maps to chromosome 3. Hum Mol Genet 1995;4:1625-1628.
23. Gydesen S, Hagen S, Klinken L, Abelskov J, Sorensen SA: Neuropsychiatric studies in a family with presenile dementia different from Alzheimer and Pick disease. Acta Psychiatr Scand 1987;76:276-284.
24. Brown J, Gydesen S, Sorensen SA, Brun A, Smith S, Houlden H, Twells R, Mullan M, Rossor M, Collinge J, Palmer M, Goate A, Hardy J: Genetic characterization of a familial non-specific dementia originating in Jutland, Denmark. J Neurol Sci 1993;114:138-143.
25. Hofferbert S, Schanen NC, Chehab F, Francke U: Trinucleotide repeats in the human genome: Size distributions for all possible triplets and detection of expanded disease alleles in a group of Huntington disease individuals by the repeat expansion detection method. Hum Mol Genet 1997;6:77-83.
26. Taylor K, Hornigold N, Conway D, Williams D, Ulinowski Z, Agochiya M, Fattorini P, De Jong P, Little PF, Wolfe J: Mapping the human Y chromosome by fingerprinting cosmid clones. Genome Res 1996;6:235-248.
27. Johansson J, Forsgren L, Sandgren O, Holmgren G, Holmberg M: Isolation of candidate genes for autosomal dominant cerebellar ataxia type II (abstract). Am J Hum Genet 1996;59: A223-A223.
28. Gastier JM, Brody T, Pulido JC, Businga T, Sunden S, Hu X, Maitra S, Buetow KH, Murray JC, Sheffield VC, Boguski M, Duyk GM, Hudson TJ: Development of a screening set for new (CAG/CTG)n dynamic mutations. Genomics 1996;32:75-85.
29. Imbert G, Saudou F, Yvert G, Devys D, Trottier Y, Gamier JM, Weber C, Mandel JL, Cancel G, Abbas N, Durr A, Didierjean O, Stevanin G, Agid Y, Brice A: Cloning of the gene for spinocerebellar ataxia 2 reveals a locus with high sensitivity to expanded CAG/glutamine repeats. Nat Genet 1996;14:285-291.
30. Ranen NG, Stine OC, Abbott MH, Sherr M, Codori AM, Franz ML, Chao NI, Chung AS, Pleasant N, Callahan C, Kasch LM, Ghaffari M, Chase GA, Kazazian HH, Brandt J, Folstein SE, Ross C: Anticipation and instability of IT-15 (CAG)n repeats in parent-offspring pairs with Huntington disease. Am J Hum Genet 1995;57:593-602.
31. Giunti P, Sabbadini G, Sweeney MG, Davis MB, Veneziano L, Mantuano E, Federico A, Plasmati R, Frontali M, Wood NW: The role of the SCA2 trinucleotide repeat expansion in 89 autosomal dominant cerebellar ataxia families. Frequency, clinical and genetic correlates. Brain 1998;121:459-467.
32. David G, Durr A, Stevanin G, Cancel G, Abbas N, Benomar A, Belal S, Lebre AS, Abada BM, Grid D, Holmberg M, Yahyaoui M, Hentati F, Chkili T, Agid Y, Brice A: Molecular and clinical correlations in autosomal dominant cerebellar ataxia with progressive macular dystrophy (SCA7). Hum Mol Genet 1998;7:165-170.
33. Nielsen JE, Koefoed P, Abell K, Hasholt L, Eiberg H, Fenger K, Niebuhr E, Sorensen SA: CAG repeat expansion in autosomal dominant pure spastic paraplegia linked to chromosome 2p21-p24. Hum Mol Genet 1997;6:1811-1816.
34. Lindblad K, Lunkes A, Maciel P, Stevanin G, Zander C, Klockgether T, Ratzlaff T, Brice A, Rouleau GA, Hudson T, Auburger G, Schalling M: Mutation detection in Machado-Joseph disease using repeat expansion detection. Mol Med 1996;2:77-85.
35. Jodice C, Mantuano E, Veneziano L, Trettel F, Sabbadini G, Calandriello L, Francia A, Spadaro M, Pierelli F, Salvi F, Ophoff RA, Frants RR, Frontali M: Episodic ataxia type 2 (EA2) and spinocerebellar ataxia type 6 (SCA6) due to CAG repeat expansion in the CACNA1A gene on chromosome 19p. Hum Mol Genet 1997;6:1973-1978.
36. Zhuchenko O, Bailey J, Bonnen P, Ashizawa T, Stockton DW, Amos C, Dobyns WB, Subramony SH, Zoghbi HY, Lee CC: Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alpha-1A-voltage-dependent calcium channel. Nat Genet 1997;15:62-69.
37. Sirugo G, Deinard AS, Kidd JR, Kidd KK: Survey of maximum CTG/CAG repeat lengths in humans and non-human primates: Total genome scan in populations using the repeat expansion detection method. Hum Mol Genet 1997;6:403-408.
38. Gecz J, Gedeon AK, Sutherland GR, Mulley JC: Identification of the gene FMR2, associated with FRAXE mental retardation. Nat Genet 1996;13:105-108.
39. Trottier Y, Lutz Y, Stevanin G, Imbert G, Devys D, Cancel G, Saudou F, Weber C, David G, Tora L, Agid Y, Brice A, Mandel JL: Polyglutamine expansion as a pathological epitope in Huntington's disease and four dominant cerebellar ataxias. Nature 1995;378:403-406.
40. Stevanin G, Trottier Y, Cancel G, Durr A, David G, Didierjean O, Burk K, Imbert G, Saudou F, Abada BM, Gourfinkel AI, Benomar A, Abbas N, Klockgether T, Grid D, Agid Y, Mandel JL, Brice A: Screening for proteins with polyglutamine expansions in autosomal dominant cerebellar ataxias. Hum Mol Genet 1996;5:1887-1892.