CAG repeat expansion in autosomal dominant familial spastic paraparesis: Novel expansion in a subset of patients

Human Molecular Genetics

Volumn 7, Issue 11, 1998, Pages 1779-1786

  Benson, Kathleen F ^a   Horwitz, Marshall ^a   Wolff, John ^a   Friend, Kathy ^b   Thompson, Elizabeth ^c   White, Sue ^c   Richards, Robert I ^b,d   Raskind, Wendy H ^a   Bird, Thomas D ^e  

^a UNIVERSITY OF WASHINGTON SCHOOL OF MEDICINE   (United States)

^b North Adelaide SA   (United States)

^c WOMEN S AND CHILDREN S HOSPITAL   (Australia)

^d UNIVERSITY OF ADELAIDE   (Australia)

^e VETERANS AFFAIRS MEDICAL CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; AUTOSOMAL DOMINANT DISORDER; CHROMOSOME 14Q; CHROMOSOME 15Q; CHROMOSOME 17Q; CHROMOSOME 18Q; CHROMOSOME 2P; CONTROLLED STUDY; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; MAJOR CLINICAL STUDY; PRIORITY JOURNAL; TRINUCLEOTIDE REPEAT;

BLOTTING, WESTERN; CHROMOSOMES, HUMAN, PAIR 17; CHROMOSOMES, HUMAN, PAIR 18; DNA-BINDING PROTEINS; FEMALE; GENES, DOMINANT; HUMANS; LINKAGE (GENETICS); MALE; PEDIGREE; SPASTIC PARAPLEGIA, HEREDITARY; TATA-BOX BINDING PROTEIN; TCF TRANSCRIPTION FACTORS; TRANS-ACTIVATORS; TRANSCRIPTION FACTORS; TRINUCLEOTIDE REPEAT EXPANSION;

EID: 0031683446     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/7.11.1779     Document Type: Article

References (49)

1. The 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.
2. La Spada, A.R., Wilson, E.M., Lubahn, D.B., Harding, A.E. and Fischbeck, K.H. (1991) Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy. Nature, 352, 77-79.
3. 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. and Tsuji, S. (1994) Unstable expansion of CAG repeat in hereditary dentatorubral-pallidoluysian atrophy (DRPLA). Nature Genet., 6, 9-13.
4. Orr, H.T., Chung, M., Banfi, S., Kwiatkowski, T.J. Jr, Servadio, A., Beaudet, A.L., McCall, A.E., Duvick, L.A., Ranum, L.P.W. and Zoghbi, H.Y. (1993) Expansion of an unstable trinucleotide (CAG) repeat in spinocerebellar ataxia type 1. Nature Genet., 4, 221-226.
5. Pulst, S.-M., Nechiporuk, A., Nechiporuk, T., Gispert, S., Chen, X.-N., Lopes-Cendes, I., Pearlman, S., Starkman, S., Orozco-Diaz, G., Lunkes, A., DeJong, P., Rouleau, G.A., Auburger, G., Korenberg, J.R., Figueroa, C. and Sahba, S. (1996) Moderate expansion of a normally biallelic trinucleotide repeat in spinocerebellar ataxia type 2. Nature Genet., 14, 269-276.
6. Sanpei, K., Takano, H., Igarashi, S., Sato, T., Oyake, M., Sasaki, H., Wakisaka, A., Tashiro, K., Ishida, Y., Ikeuchi, T., Koide, R., Saito, M., Sato, A., Tanaka, T., Hanyu, S., Takiyama, Y., Nishizawa, M., Shimizu, N., Nomura, Y., Segawa, M., Iwabuchi, K., Eguchi, I., Tanaka, H., Takahashi, H. and Tsuji, S. (1996) Identification of the spinocerebellar ataxia type 2 gene using a direct identification of repeat expansion and cloning technique, DIRECT. Nature Genet., 14, 277-284.
7. Imbert, G., Saudou, F., Yvert, G., Devys, D., Trottier, Y., Gamier, J.-M., Weber, C., Mandel, J-L., Cancel, G., Abbas, N., Dürr, A., Didierjean, O., Stevanin, G., Agid, Y. and Brice, A. (1996) Cloning of the gene for spinocerebellar ataxia 2 reveals a locus with high sensitivity of expanded CAG/glutamine repeats. Nature Genet., 11, 285-291.
8. Kawaguchi, Y., Okamota, T., Taniwaki, M., Aizawa, M., Inoue, M., Katayama, S., Kawakami, H., Nakamura, S., Nishimura, M., Akiguchi, I., Kimura, J., Narumiya, S. and Kakizuka, A. (1994) CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1. Nature Genet., 8, 221-228.
9. 1Avoltage-dependent calcium channel. Nature Genet., 15, 62-69.
10. David, G., Abbas, N., Stevanin, G., Dürr, A., Yvert, G., Cancel, G., Wever, C., Imbert, G., Saudou, F., Antoniou, E., Drabkin, H., Gemmill, R., Giunti, P., Benomar, A., Wood, N., Ruberg, M., Agid, Y., Mandel, J.-L. and Brice, A. (1997) Cloning of the SCA7 gene reveals a highly unstable CAG repeat expansion. Nature Genet., 17, 65-70.
11. Lafrenière, R.G., Rochefort, D.L., Chrétien, N., Rommens, J.M., Cochius, J.I., Kälviäinen, R., Nousiainen, U., Patry, G., Farrell, K., Söderfeldt, B., Federico, A., Hale, B.R., Cossio, O.H., Sorenson, T., Pouliot, M.A., Kmiec, T., Uldall, P. Janszky, J., Pranzatelli, M.R., Andermann, F., Andermann, E. and Rouleau, G. A. (1997) Unstable insertion in the 5′ flanking region of the cystatin B gene is the most common mutation in progressive myoclonus epilepsy type 1, EPM1. Nature Genet., 15, 298-302.
12. Virtaneva, K., D'Amato, E., Miao, J., Koskiniemi, M., Norio, R., Avanzini, G., Franceschetti, S., Michelucci, R., Tassinari, C.A., Omer, S., Pennacchio, L.A., Myers, R.M., Dieguez-Lucena, J.L., Krahe, R., de la Chapelle, A. and Lehesjoki, A.-E. (1997) Unstable minisatellite expansion causing recessively inherited myoclonus epilepsy, EPM1. Nature Genet., 15, 393-396.
13. n. Science, 252, 1711-1714.
14. Knight, S.J.L., Flannery, A.V., Hirst, M.C., Campbell, L., Christodoulou, Z., Phelps, S.R., Pointon, J., Middleton-Price, H.R., Bamicoat, A., Pembrey, M.E., Holland, J., Oostra, B.A., Bobrow, M. and Davies, K.E. (1993) Trinucleotide repeat amplification and hypermethylation of a CpG island in FRAXE mental retardation. Cell, 74, 127-134.
15. McInnis, M.G. (1996) Anticipation: an old idea in new genes. Am. J Hum. Genet., 59, 973-979.
16. Robitaille, Y., Lopes-Cendes, I., Becher, M., Rouleau, G. and Clark, A.W. (1997) The neuropathology of CAG repeat diseases: review and update of genetic and molecular features. Brain Pathol., 7, 901-926.
17. McKusick, V. A. (1988) Spastic paraplegia. In Mendelian Inheritance in Man. Johns Hopkins University Press, Baltimore, MD.
18. Kenwrick, S., Ionasescu, V. Ionasescu, G., Searby, C., King, A., Dubowitz, M. and Davies, K.E. (1986) Linkage studies of X-linked recessive spastic paraplegia using DNA probes. Hum. Genet., 73, 264-266.
19. Keppen, L.D., Leppert, M.F., O'Connell, P., Nakamura, Y., Stauffer, D., Lathrop, M., Lalouel, J.-M. and White, R. (1987) Etiological heterogeneity in X-linked spastic paraplegia. Am. J. Hum. Genet., 41, 933-943.
20. Jouet, M., Rosenthal, A., Armstrong, G., MacFarlane, J., Stevenson, R., Paterson, J., Metzenberg, A., Ionasescu, V., Temple, K. and Kenwrick, S. (1994) X-linked spastic paraplegia (SPG1), MASA syndrome and X-linked hydrocephalus result from mutations in the L1 gene. Nature Genet., 7, 402-407.
21. Saugier-Veber, P., Munnich, A., Bonneau, D., Rozel, J.-M., Le Merrer, M., Gil, R. and Boespflug-Tanguy, O. (1994) X-linked spastic paraplegia and Pelizaeus-Merzbacher disease are allelic disorders at the proteolipid protein locus. Nature Genet., 6, 257-262.
22. Kobayashi, H., Huffman, E.P. and Marks, H.G. (1994) The rumpshaker mutation in spastic paraplegia. Nature Genet., 7, 351-352.
23. Hazan, J., Larny, C. Melki, J., Munnich, A., deRecondo, J. and Weissenbach, J. (1993) Autosomal dominant familial spastic paraplegia is genetically heterogeneous and one locus maps to chromosome 14q. Nature Genet., 5, 163-167.
24. Hazan, J., Fontaine, B., Bruyn, R.P.M., Lamy, C., van Deutekom, J.C.T., Rime, C.-S., Dürr, A., Melki, J., Lyon-Caen, O., Agid, Y., Munnich, A., Padberg, G.W., de Recondo, J., Frants, R.R., Brice, A. and Weissenbach, J. (1994) Linkage of a new locus for autosomal dominant familial spastic paraplegia to chromosome 2p. Hum. Mol. Genet., 3, 1569-1573.
25. Fink, J.K., Wu, C.B., Jones, S.M., Sharp, G.B., Lange, B.M., Lesicki, A., Reinglass, T., Varvil, T., Otterud, B. and Leppert, M. (1995) Autosomal dominant familial spastic paraplegia: tight linkage to chromosome 15q. Am. J. Hum. Genet., 56, 188-192.
26. Hentati, A., Pericak-Vance, M.A., Hung, W.-Y., Belal, S., Laing, N., Boustany, R.M., Hentati, F., Ben-Hamida, M. and Siddique, T. (1994) Linkage of 'pure' autosomal recessive familial spastic paraplegia to chromosome 8 markers and evidence of genetic locus heterogeneity. Hum. Mol. Genet., 3, 1263-1267.
27. Raskind, W.H., Pericak-Vance, M.A., Lennon, F., Wolff, J., Lipe, H.P. and Bird, T.D. (1997) Familial spastic paraparesis: evaluation of locus heterogeneity, anticipation and haplotype mapping of the SPG4 locus on the short arm of chromosome 2. Am. J. Med. Genet., 74, 26-36.
28. Harding, A.E. (1993) Clinical features and classification of inherited ataxias. Adv. Neurol., 61, 1-14.
29. Schalling, M., Hudson, T.J., Beutow, K.H. and Housman, D.E. (1993) Direct detection of novel expanded trinucleotide repeats in the human genome. Nature Genet., 4, 135-139.
30. Lindblad, K., Zander, C., Schalling, M. and Hudson, T. (1994) Growing triplet repeats. Nature Genet., 7, 124.
31. Hofferbert, S., Schanen, N.C., Chehab, F. and Franke, U. (1997) 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., 6, 77-83.
32. Sirugo, G., Deinard, A.S., Kidd, J.R. and Kidd, K.K. (1997) Survey of maximum CTG/CAG repeat lengths in humans and non-human primates: total genome scan in populations using the Repeat Detection method. Hum. Mol. Genet., 6, 403-408.
33. Breschel, T.S., McInnis, M.G., Margolis, R.L., Sirugo, G., Corneliussen, B., Simpson, S.G., McMahon, F.J., MacKinnon, D.F., Xu, J.F., Pleasant, N., Huo, Y., Ashworth, R.G., Grundstrom, C., Grundstrom, T. Kidd, K.K., DePaulo, J.R. and Ross, C.A. (1997) A novel, heritable, expanding CTG repeat in an intron of the SEF2-1 gene on chromosome 18q21.1. Hum. Mol. Genet., 6, 1855-1863.
34. Nakamoto, M., Takebayashi, H., Kawaguchi, Y., Narumiya, Y., Taniwaki, M., Nakamura, Y., Ishikawa, Y., Akiguchi, I., Kimura, J. and Kakizuka, A. (1997) A CAG/CTG expansion in the normal population. Nature Genet., 17, 385-386.
35. Lindblad, K., Nylander, P.O., DeBruyn, A., Souery, D., Zander, C., Engstrom, C.. Holmgren, G., Hudson, T., Chotai, J., Mendlewicz, J., Van Broeckhoven, C. Schalling, M. and Adolfsson, R. (1995) Detection of expanded CAG repeats in Bipolar Affective Disorder using the repeat expansion detection (RED) method. Neurobiol. Disease, 2, 55-62.
36. O'Donovan, M.C., Guy, C., Craddock, N., Murphy, K.C., Cardno, A.G., Jones, L.A., Owen, M.J. and McGuffin, P. (1995) Expanded CAG repeats in schizophrenia and bipolar disorder. Nature Genet., 10, 380-381.
37. Morris, A.G., Gaitonde, E., McKenna, P.J., Mollon, J.D. and Hunt, D.M. (1995) CAG repeat expansions and schizophrenia: association with disease in females and with early age-at-onset. Hum. Mol. Genet., 4, 1957-1961.
38. Berrettini, W.H., Ferraro, T.N., Goldin, L.R., Weeks, D.E., Detera-Wadleigh, S., Nurnberger, J.I. Jr and Gershon, E.S. (1994) Chromosome 18 DNA markers and manic-depressive illness: evidence for a susceptibility gene. Proc. Natl Acad. Sci. USA, 91, 5918-5921.
39. Freimer, N.B., Reus, V.I., Escamilla, M.A., McInnes, L.A., Spesny, M., Leon, P., Service, S.K., Smith, L.B., Silva, S., Rojas, E., Gallegos, A., Meza, L., Weissenback, J., Barondes, S.H. and Sandkuijl, L.A. (1996) Genetic mapping using haplotype, association and linkage methods suggests a locus for severe bipolar disorder (BPI) at 18q22-q23. Nature Genet., 12, 436-441.
40. Bürger, J., Metzke, H., Paternotte, C., Schilling, F., Hazan, J. and Reis, A. (1996) Autosomal dominant spastic paraplegia with anticipation maps to a 4-cm interval on chromosome 2p21-p24 in a large German family. Hum. Genet., 98, 371-375.
41. Gispert, S., Santos, N., Damen, R., Voit, T., Schulz, J., Klockgether, T., Orozco, G., Kreuz, F., Weissenbach, J. and Auburger, G. (1995) Autosomal dominant familial spastic paraplegia: reduction of the FSP1 candidate region on chromosome 14q to 7 cM and locus heterogeneity. Am. J Hum. Genet., 56, 183-187.
42. Nielsen, J.E., Koefoed, P., Abell, K., Hasholt, L., Eiberg, H., Fenger, K., Niebuhr, E. and Sorensen, S.A. (1997). CAG repeat expansion in autosomal dominant pure spastic paraplegia linked to chromosome 2p21-p24. Hum. Mol. Genet., 6, 1811-1816.
43. Kobayashi, H., Garcia, CA., Alfonso, G., Marks, H.G. and Hoffman, E.P. (1996) Molecular genetics of familial spastic paraplegia: a multitude of responsible genes. J. Neurosci., 137, 131-138.
44. Trottier, Y., Lutz, Y., Stevanin, G., Imbert, G., Devys, D., Cancel, G., Saudou, F., Weber, C., David, G., Tora, L., Agid, Y., Bnce, A. and Mandel, J.-L. (1995) Polyglutamine expansion as a pathological epitope in Huntington's disease and four dominant cerebellar ataxias. Nature, 378, 403-406.
45. Koob, M.D., Benzow, K.A., Bird, T.D., Day, J.W., Moseley, M.L. and Ranum, L.P.W. (1998) Rapid cloning of expanded trinucleotide repeat sequences from genomic DNA. Nature Genet., 18, 72-75.
46. Lindblad, K., Lunkes, A., Maciel, P., Stevanin, G., Zander, C., Klockgether, T., Ratzlaff, T., Brice, A., Rouleau, G.A., Hudson, T., Auburger, G. and Schalling, M. (1996) Mutation detection in Machado-Joseph disease using repeat expansion detection. Mol. Med., 2, 77-85.
47. Lathrop, G.M., Lalouel, J.M., Julier, C. and Ott, J. (1984) Strategies for multilocus linkage analysis in humans. Proc. Natl Acad. Sci. USA, 81, 3443-3446.
48. Horwitz, M., Benson, K.F., Li, F-Q., Wolff, J., Leppert, M.F., Hobson, L., Mangelsdorf, M., Yu, S., Hewett, D., Richards, R.I. and Raskind, W.H. (1997) Genetic heterogeneity in familial acute myelogenous leukemia: evidence for a second locus at chromosome 16q21-23.2. Am. J. Hum. Genet., 61, 873-881.
49. Sambrook, J., Fritsch, T. and Maniatis, T. (1989) Molecular Cloning: A Laboratory Manual. Cold Spring Harbor Laboratory Press, Cold Spring Harbor, NY