Autosomal dominant pure cerebellar ataxia: A clinical and genetic analysis of eight Japanese families

Brain

Volumn 119, Issue 4, 1996, Pages 1173-1182

  Ishikawa, K ^a   Mizusawa, H ^a   Saito, M ^c   Tanaka, H ^c   Nakajima, N ^b   Kondo, N ^b   Kanazawa, I ^d   Shoji, S ^a   Tsuji, S ^c  

^a UNIVERSITY OF TSUKUBA   (Japan)

^b NATIONAL INSTITUTE FOR ENVIRONMENTAL STUDIES   (Japan)

^c NIIGATA UNIVERSITY   (Japan)

^d UNIVERSITY OF TOKYO   (Japan)

Author keywords

Anticipation; Autosomal dominant pure cerebellar ataxia (ADCA) type III; Genetic heterogeneity; Linkage analysis

Indexed keywords

ADULT; AGED; ANTICIPATION; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CEREBELLAR ATAXIA; CLINICAL ARTICLE; CLINICAL FEATURE; DISEASE COURSE; DISEASE DURATION; DISEASE SEVERITY; FEMALE; GAIT; GENE LOCUS; GENETIC ANALYSIS; GENETIC LINKAGE; HUMAN; MALE; ONSET AGE; PHENOTYPE; PRIORITY JOURNAL; SYMPTOM;

EID: 0029782230     PISSN: 00068950     EISSN: None     Source Type: Journal    
DOI: 10.1093/brain/119.4.1173     Document Type: Article

References (39)

1. Aoki M, Abe K, Kameya T, Watanabe M, Itoyama Y. Maternal anticipation of DRPLA. Hum Mol Genet 1994; 3: 1197-8.
2. Chung M-Y, Ranum LPW, Duvick LA, Servadio A, Zoghbi HY, Orr HT. Evidence for a mechanism predisposing to intergenerational CAG repeat instability in spinocerebellar ataxia type 1. Nat Genet 1993; 5: 254-8.
3. Dürr A, Chneiweiss H, Khati C, Stevanin G, Cancel G, Feingold J, et al. Phenotypic variability in autosomal dominant cerebellar ataxia type I is unrelated to genetic heterogeneity. Brain 1993; 116: 1497-508.
4. Eadie MJ. Cerebello-olivary atrophy. In: Vinken PJ, Bruyn GW, Klawans HL, De Jong JMBV, editors. Handbook of clinical neurology, Vol. 60. Amsterdam: Elsevier, 1991: 569-73.
5. Enevoldson TP, Sanders MD, Harding AE. Autosomal dominant cerebellar ataxia with pigmentary macular dystrophy. A clinical and genetic study of eight families. Brain 1994; 117: 445-60.
6. Frontali M, Spadaro M, Giunti P, Bianco F, Jodice C, Persichetti F, et al. Autosomal dominant pure cerebellar ataxia. Neurological and genetic study. Brain 1992; 115: 1647-54.
7. Gardner K, Alderson K, Galster B, Kaplan C, Leppert M, Ptacek L. Autosomal dominant spinocerebellar ataxia: clinical description of a distinct hereditary ataxia and genetic localization to chromosome 16 (SCA4) in a Utah kindred [abstract]. Neurology 1994; 44 Suppl 2: A361.
8. Gispert S, Twells R, Orozco G, Brice A, Weber J, Heredero L, et al. Chromosomal assignment of the second locus for autosomal dominant cerebellar ataxia (SCA2) to chromosome 12q23-24.1. Nat Genet 1993; 4: 295-9.
9. Giunti P, Sweeney MG, Spadaro M, Jodice C, Novelletto A, Malaspina P, et al. The trinucleotide repeat expansion on chromosome 6p (SCA1) in autosomal dominant cerebellar ataxias. Brain 1994; 117: 645-9.
10. Giunti P, Sweeney MG, Harding AE. Detection of the Machado-Joseph disease/spinocerebellar ataxia three trinucleotide repeat expansion in families with autosomal dominant motor disorders, including the Drew family of Walworth. Brain 1995; 118: 1077-85.
11. Gyapay G, Morissette J, Vignal A, Dib C, Fizames C, Millasseau P, et al. The 1993-94 Généthon human genetic linkage map [see comments]. Nat Genet 1994; 7 (2 Spec No): 246-339. Comment in: Nat Genet 1994; 7 (2 Spec No): 219.
12. Hall B, Noad KB, Latham O. Familial cortical cerebellar atrophy. Brain 1941; 64: 178-94.
13. Hall B, Noad KB, Latham O. Familial cortical cerebellar atrophy: a contribution to the study of heredo-familial cerebellar disease in Australia. Med J Aust 1945; 1: 101-8.
14. Harding AE. The clinical features and classification of the late onset autosomal dominant cerebellar ataxias. A study of 11 families, including descendants of 'the Drew family of Walworth'. Brain 1982; 105: 1-28.
15. Hirayama K, Takayanagi T, Nakamura R, Yanagisawa N, Hattori T, Kita K, et al. Spinocerebellar degenerations in Japan: a nationwide epidemiological and clinical study. Acta Neurol Scand 1994; Suppl 153: 1-22.
16. Hoffman PM, Stuart WH, Earle KM, Brody JA. Hereditary lateonset cerebellar degeneration. Neurology 1971; 21: 771-7.
17. Jodice C, Malaspina P, Persichetti F, Novelletto A, Spadaro M, Giunti P, et al. Effect of trinucleotide repeat length and parental sex on phenotypic variation in spinocerebellar ataxia I. Am J Hum Genet 1994; 54: 959-65.
18. Kawaguchi Y, Okamoto T, Taniwaki M, Aizawa M, Inoue M, Katayama S, et al. CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1 [see comments]. Nat Genet 1994; 8: 221-8. Comment in: Nat Genet 1994; 8: 213-15.
19. Klockgether T, Schroth G, Diener H-C, Dichgans J. Idiopathic cerebellar ataxia of late onset: natural history and MRI morphology. J Neurol Neurosurg Psychiatry 1990; 53: 297-305.
20. La Spada AR, Paulson HL, Fischbeck KH. Trinucleotide repeat expansion in neurological disease. [Review]. Ann Neurol 1994; 36: 814-22.
21. Lathrop GM, Lalouel JM, Julier C, Ott J. Strategies for multilocus linkage analysis in humans. Proc Natl Acad Sci USA 1984; 81: 3443-6.
22. Menomar A, Le Guern E, Dürr A, Ouhabi H, Stevanin G, Yahyaoui M, et al. Autosomal-dominant cerebellar ataxia with retinal degeneration (ADCA type II) is genetically different from ADCA type I. Ann Neurol 1994; 35: 439-44.
23. Menomar A, Krols L, Stevanin G, Cancel G, LeGuern E, David G, et al. The gene for autosomal dominant cerebellar ataxia with pigmentary macular dystrophy maps to chromosome 3p12-p21.1. Nat Genet 1995; 10: 84-8.
24. Moschner C, Perlman S, Baloh RW. Comparison of oculomotor findings in the progressive ataxia syndromes. Brain 1994; 117: 15-25.
25. Orr HT, Chung M-Y, Banfi S, Kwiatkowski TJ Jr, Servadio A, Beaudet AL, et al. Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type I. Nat Genet 1993; 4: 221-6.
26. Ott J. Analysis of human genetic linkage. Rev. ed. Baltimore: Johns Hopkins University Press, 1991.
27. Plaitakis A, Katoh S, Huang YP. Clinical and radiologic features of cerebellar degeneration. In: Plaitakis A, editors. Cerebellar degenerations: clinical neurobiology. Boston: Kluwer Academic, 1992: 305-65.
28. Polo JM, Calleja J, Combarros O, Berciano J. Hereditary ataxias and paraplegias in Cantabria, Spain. Brain 1991; 114: 855-66.
29. Ranum LPW, Schut LJ, Lundgren JK, Orr HT, Livingston DM. Spinocerebellar ataxia type 5 in a family descended from the grandparents of President Lincoln maps to chromosome 11. Nat Genet 1994; 8: 280-4.
30. Richter RB. Late cortical cerebellar atrophy. A form of hereditary cerebellar ataxia. Am J Hum Genet 1950; 2: 1-29.
31. Sambrook J, Fritsch EF, Maniatis T. Molecular cloning: a laboratory manual. 2nd ed. New York: Cold Spring Harbor Laboratory Press, 1989.
32. Stevanin G, Le Guern E, Ravisé N, Chneiweiss H, Dürr A, Cancel G, et al. A third locus for autosomal dominant cerebellar ataxia type I maps to chromosome 14q24.3-qter: evidence for the existence of a fourth locus. Am J Hum Genet 1994; 54: 11-20.
33. Takiyama Y, Nishizawa M, Tanaka H, Kawashima S, Sakamoto H, Karube Y, et al. The gene for Machado-Joseph disease maps to human chromosome 14q. Nat Genet 1993; 4: 300-4.
34. Takiyama Y, Oyanagi S, Kawashima S, Sakamoto H, Saito K, Yoshida M, et al. A clinical and pathologic study of a large Japanese family with Machado-Joseph disease tightly linked to the DNA markers on chromosome 14q. Neurology 1994; 44: 1302-8.
35. Takiyama Y, Igarashi S, Rogaeva EA, Endo K, Rogaev EI, Tanaka H, et al. Evidence for inter-generational instability in the CAG repeat in the MJDI gene and for conserved haplotypes at flanking markers amongst Japanese and Caucasian subjects with Machado-Joseph disease. Hum Mol Genet 1995; 4: 1137-46.
36. Weber FP, Greenfield JG. Cerebello-olivary degeneration: an example of heredo-familial incidence. Brain 1942; 65: 220-31.
37. Yakura H, Wakisaka A, Fujimoto S, Itakura K. Hereditary ataxia and HL-A [letter]. N Engl J Med 1974; 291: 154-5.
38. Zee DS, Yee RD, Cogan DG, Robinson DA, Engel WK. Ocular motor abnormalities in hereditary cerebellar ataxia. Brain 1976; 99: 207-34.
39. Zoghbi HY, Jodice C, Sandkuijl LA, Kwiatkowski TJ Jr, McCall AE, Huntoon SA, et al. The gene for autosomal dominant spinocerebellar ataxia (SCA1) maps telomeric to the HLA complex and is closely linked to the D6S89 locus in three large kindreds. Am J Hum Genet 1991; 49: 23-30.