Spinocerebellar ataxia type 8: Molecular genetic comparisons and haplotype analysis of 37 families with ataxia

American Journal of Human Genetics

Volumn 75, Issue 1, 2004, Pages 3-16

  Ikeda, Yoshio ^a   Dalton, Joline C ^a   Moseley, Melinda L ^a   Gardner, Kathy L ^b   Bird, Thomas D ^c   Ashizawa, Tetsuo ^d,e,f   Seltzer, William K ^g   Pandolfo, Massimo ^h   Milunsky, Aubrey ⁱ   Potter, Nicholas T ^j   Shoji, Mikio ^k   Vincent, John B ^l   Day, John W ^a   Ranum, Laura P W ^a  

^a UNIVERSITY OF MINNESOTA   (United States)

^b UNIVERSITY OF PITTSBURGH SCHOOL OF MEDICINE   (United States)

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

^d University of Texas Medical Branch School of Medicine   (United States)

^e BAYLOR COLLEGE OF MEDICINE   (United States)

^f MICHAEL E DEBAKEY VETERANS AFFAIRS MEDICAL CENTER   (United States)

^g ATHENA DIAGNOSTICS INC   (United States)

^h ERASME HOSPITAL   (Belgium)

ⁱ BOSTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

^j UNIVERSITY OF TENNESSEE MEDICAL CENTER   (United States)

^k OKAYAMA UNIVERSITY   (Japan)

^l CENTRE FOR ADDICTION AND MENTAL HEALTH   (Canada)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; ATAXIA; AUTOSOMAL RECESSIVE DISORDER; CANADA; CAUCASIAN; CHROMOSOME; CLINICAL FEATURE; DEGENERATIVE DISEASE; DOMINANT INHERITANCE; ENVIRONMENTAL FACTOR; FAMILY; FEMALE; GENE FREQUENCY; GENETIC ANALYSIS; HAPLOTYPE; HEREDITY; HISTOGRAM; HUMAN; INHERITANCE; JAPAN; MAJOR CLINICAL STUDY; MALE; MEXICO; MOLECULAR GENETICS; PATHOGENESIS; PENETRANCE; PLESIOMORPHY; PRIORITY JOURNAL; PSYCHOSIS; SEGREGATION ANALYSIS; SPINOCEREBELLAR ATAXIA TYPE 8; SPINOCEREBELLAR DEGENERATION; TRINUCLEOTIDE REPEAT; UNITED STATES;

PIERINAE;

EID: 3042595333     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/422014     Document Type: Article

References (41)

1. Benzow KA, Koob MD (2002) The KLHL1-antisense transcript (KLHL1AS) is evolutionarily conserved. Mamm Genome 13:134-141
2. Brusco A, Cagnoli C, Franco A, Dragone E, Nardacchione A, Grosso E, Mortara P, Mutani R, Migone N, Orsi L (2002) Analysis of SCA8 and SCA12 loci in 134 Italian ataxic patients negative for SCA1-3, 6 and 7 CAG expansions. J Neurol 249:923-929
3. Cellini E, Piacentini S, Nacmias B, Forleo P, Tedde A, Bagnoli S, Ciantelli M, Sorbi S (2002) A family with spinocerebellar ataxia type 8 expansion and vitamin E deficiency ataxia. Arch Neurol 59:1952-1953
4. Day J, Dalton JC, Ikeda Y, Ranum LPW (2003) MRI studies in SCA8: cerebellar atrophy in unaffected expansion carriers partially explains reduced penetrance. Am J Hum Genet Suppl 73:548
5. Day JW, Schut LJ, Moseley ML, Durand AC, Ranum LPW (2000) Spinocerebellar ataxia type 8: clinical features in a large family. Neurology 55:649-657
6. Hagerman RJ, Leehey M, Heinrichs W, Tassone F, Wilson R, Hills J, Grigsby J, Gage B, Hagerman PJ (2001) Intention tremor, parkinsonism, and generalized brain atrophy in male carriers of fragile X. Neurology 57:127-130
7. Holmes SE, Hearn EO, Ross CA, Margolis RL (2001) SCA12: an unusual mutation leads to an unusual spinocerebellar ataxia. Brain Res Bull 56:397-403
8. Holmes SE, O'Hearn EE, McInnis MG, Gorelick-Feldman DA, Kleiderlein JJ, Callahan C, Kwak NG, Ingersoll-Ashworth RG, Sherr M, Sumner AJ, Sharp AH, Ananth U, Seltzer WK, Boss MA, Vieria-Saecker AM, Epplen JT, Riess O, Ross CA, Margolis RL (1999) Expansion of a novel CAG trinucleotide repeat in the 5′ region of PPP2R2B is associated with SCA12. Nat Genet 23:391-392
9. Ikeda Y, Shizuka M, Watanabe M, Okamoto K, Shoji M (2000) Molecular and clinical analyses of spinocerebellar ataxia type 8 in Japan. Neurology 54:950-955
10. Izumi Y, Maruyama H, Oda M, Morino H, Okada T, Ito H, Sasaki I, Tanaka H, Komure O, Udaka F, Nakamura S, Kawakami H (2003) SCA8 repeat expansion: large CTA/CTG repeat alleles are more common in ataxic patients, including those with SCA6. Am J Hum Genet 72:704-709
11. Jacquemont S, Hagerman RJ, Leehey M, Grigsby J, Zhang L, Brunberg JA, Greco C, Des Portes V, Jardini T, Levine R, Berry-Kravis E, Brown WT, Schaeffer S, Kissel J, Tassone F, Hagerman PJ (2003) Fragile X premutation tremor/ataxia syndrome: molecular, clinical, and neuroimaging correlates. Am J Hum Genet 72:869-878
12. Jin P, Warren ST (2000) Understanding the molecular basis of fragile X syndrome. Hum Mol Genet 9:901-908
13. Juvonen V, Hietala M, Paivarinta M, Rantamaki M, Hakamies L, Kaakkola S, Vierimaa O, Penttinen M, Savontaus ML (2000) Clinical and genetic findings in Finnish ataxia patients with the spinocerebellar ataxia 8 repeat expansion. Ann Neurol 48:354-361
14. Kanadia RN, Johnstone KA, Mankodi A, Lungu C, Thornton CA, Esson D, Timmers AM, Hauswirth WW, Swanson MS (2003) A muscleblind knockout model for myotonic dystrophy. Science 302:1978-1980
15. Koob MD, Benzow KA, Bird TD, Day JW, Moseley ML, Ranum LPW (1998) Rapid cloning of expanded trinucleotide repeat sequences from genomic DNA. Nat Genet 18:72-75
16. Koob MD, Moseley ML, Schut LJ, Benzow KA, Bird TD, Day JW, Ranum LPW (1999) An untranslated CTG expansion causes a novel form of spinocerebellar ataxia (SCA8). Nat Genet 21:379-384
17. Lambrechts D, Storkebaum E, Morimoto M, Del-Favero J, Desmet F, Marklund SL, Wyns S, et al (2003) VEGF is a modifier of amyotrophic lateral sclerosis in mice and humans and protects motoneurons against ischemic death. Nat Genet 34:383-394
18. Liquori C, Ricker K, Moseley ML, Jacobsen JF, Kress W, Naylor S, Day JW, Ranum LPW (2001) Myotonic dystrophy type 2 caused by a CCTG expansion in intron 1 of ZNF9. Science 293:864-867
19. Mankodi A, Logigian E, Callahan L, McClain C, White R, Henderson D, Krym M, Thornton CA (2000) Myotonic dystrophy in transgenic mice expressing an expanded CUG repeat. Science 289:1769-1773
20. Matsuura T, Yamagata T, Burgess DL, Rasmussen A, Grewal RP, Watase K, Khajavi M, McCall AE, Davis CF, Zu L, Achari M, Pulst SM, Alonso E, Noebels JL, Nelson DL, Zoghbi HY, Ashizawa T (2000) Large expansion of the ATTCT pentanucleotide repeat in spinocerebellar ataxia type 10. Nat Genet 26:191-194
21. Moseley ML, Schut LJ, Bird TD, Day JW, Ranum LPW (2000a) Reply. Nat Genet 24:215
22. Moseley ML, Schut LJ, Bird TD, Koob MD, Day JW, Ranum LPW (2000b) SCA8 CTG repeat: en masse contractions in sperm and intergenerational sequence changes may play a role in reduced penetrance. Hum Mol Genet 9:2125-2130
23. Mosemiller AK, Dalton JC, Day JW, Ranum LPW (2003) Molecular genetics of spinocerebellar ataxia type 8 (SCA8). Cytogenet Genome Res 100:175-183
24. Nemes JP, Benzow KA, Moseley ML, Ranum LPW, Koob MD (2000) The SCA8 transcript is an antisense RNA to a brain-specific transcript encoding a novel actin-binding protein (KLHL1). Hum Mol Genet 9:1543-1551 (correction/addition 9:2777)
25. Orr HT (2001) Beyond the Qs in the polyglutamine diseases. Genes Dev 15:925-932
26. Ott J (1991) Analysis of human genetic linkage. The Johns Hopkins University Press, Baltimore
27. Philips AV, Timchenko LT, Cooper TA (1998) Disruption of splicing regulated by a CUG-binding protein in myotonic dystrophy. Science 280:737-741
28. Ranum LPW, Day JW (2002) Dominantly inherited non-coding microsatellite expansion disorders. Curr Opin Genet Dev 12:266-271
29. Schols L, Bauer I, Zuhlke C, Schulte T, Kolmel C, Burk K, Topka H, Bauer P, Przuntek H, Riess O (2003) Do CTG expansions at the SCA8 locus cause ataxia? Ann Neurol 54:110-115
30. Silveira I, Alonso I, Guimaraes L, Mendonca P, Santos C, Maciel P, Fidalgo De Matos JM, Costa M, Barbot C, Tuna A, Barros J, Jardim L, Coutinho P, Sequeiros J (2000) High germinal instability of the (CTG)n at the SCA8 locus of both expanded and normal alleles. Am J Hum Genet 66:830-840
31. Sobrido MJ, Cholfin JA, Perlman S, Pulst SM, Geschwind DH (2001) SCA8 repeat expansions in ataxia: a controversial association. Neurology 57:1310-1312
32. Stevanin G, Herman A, Durr A, Jodice C, Frontali M, Agid Y, Brice A (2000) Are (CTG)n expansions at the SCA8 locus rare polymorphisms? Nat Genet 24:213 (author reply 24:215)
33. Tapscott SJ (2000) Deconstructing myotonic dystrophy. Science 289:1701-1702
34. Tapscott SJ, Thornton CA (2001) Reconstructing myotonic dystrophy. Science 293:816-817
35. Topisirovic I, Dragasevic N, Savic D, Ristic A, Keckarevic M, Keckarevic D, Culjkovic B, Petrovic I, Romac S, Kostic VS (2002) Genetic and clinical analysis of spinocerebellar ataxia type 8 repeat expansion in Yugoslavia. Clin Genet 62:321-324
36. Vincent JB, Neves-Pereira ML, Paterson AD, Yamamoto E, Parikh SV, Macciardi F, Gurling HM, Potkin SG, Pato CN, Macedo A, Kovacs M, Davies M, Lieberman JA, Meltzer HY, Petronis A, Kennedy JL (2000a) An unstable trinucleotide-repeat region on chromosome 13 implicated in spinocerebellar ataxia: a common expansion locus. Am J Hum Genet 66:819-829
37. Vincent JB, Yuan QP, Schalling M, Adolfsson R, Azevedo MH, Macedo A, Bauer A, DallaTorre C, Medeiros HM, Pato MT, Pato CN, Bowen T, Guy CA, Owen MJ, O'Donovan MC, Paterson AD, Petronis A, Kennedy JL (2000b) Long repeat tracts at SCA8 in major psychosis. Am J Med Genet 96:873-876
38. Warren ST (1996) The expanding world of trinucleotide repeats. Science 271:1374-1375
39. Weeks D, Sobel E, O'Connell J, Lange K (1995) Computer programs for multilocus haplotyping of general pedigrees. Am J Hum Genet 56:1506-1507
40. Worth PF, Houlden H, Giunti P, Davis MB, Wood NW (2000) Large, expanded repeats in SCA8 are not confined to patients with cerebellar ataxia. Nat Genet 24:214-215
41. Zoghbi HY, Orr HT (2000) Glutamine repeats and neurodegeneration. Annu Rev Neurosci 23:217-247