A clinicogenetic analysis of six Indian spinocerebellar ataxia (SCA2) pedigrees. The significance of slow saccades in diagnosis

Brain

Volumn 121, Issue 12, 1998, Pages 2341-2355

  Wadia, Noshir ^a   Pang, Joanna ^b   Desai, Joy ^a   Mankodi, Ami ^a   Desai, Margi ^a   Chamberlain, Susan ^b  

^a JASLOK HOSPITAL AND RESEARCH CENTRE   (India)

^b IMPERIAL COLLEGE SCHOOL OF MEDICINE   (United Kingdom)

Author keywords

Ataxia; CAG trinucleotide repeat; Ophthalmoplegia; SCA2; Slow saccades

Indexed keywords

ADOLESCENT; ADULT; ALLELE; ARTICLE; CEREBELLAR ATAXIA; COMPUTER ASSISTED TOMOGRAPHY; DISEASE SEVERITY; FEMALE; GENE LOCUS; GENETIC ANALYSIS; HEREDITARY ATAXIA; HUMAN; MAJOR CLINICAL STUDY; MALE; MOLECULAR CLONING; NUCLEAR MAGNETIC RESONANCE IMAGING; ONSET AGE; PEDIGREE; PHENOTYPE; PRIORITY JOURNAL; RETROSPECTIVE STUDY; SACCADIC EYE MOVEMENT; TRINUCLEOTIDE REPEAT; VELOCITY;

EID: 0031797677     PISSN: 00068950     EISSN: None     Source Type: Journal    
DOI: 10.1093/brain/121.12.2341     Document Type: Article

References (80)

1. Avanzini G, Girotti F, Crenna P, Negri S. Alterations of ocular motility in cerebellar pathology. An electro-oculographic study. Arch Neurol 1979; 36: 274-80.
2. Baloh RW, Yue Q, Furman MJ, Nelson SF. Familial episodic ataxia: clinical heterogeneity in four families linked to chromosome 19p [see comments]. Ann Neurol 1997; 41: 8-16. Comment in: Ann Neurol 1997; 41: 4-6.
3. Baloh RW, Yue Q, Furman MJ, Nelson SF. Familial episodic ataxia: clinical heterogeneity in four families linked to chromosome 19p [see comments]. Ann Neurol 1997; 41: 8-16. Comment in: Ann Neurol 1997; 41: 4-6.
4. Belal S, Cancel G, Stevanin G, Hentati F, Khati C, Ben Hamida C, et al. Clinical and genetic analysis of a Tunisian family with autosomal dominant cerebellar ataxia type 1 linked to the SCA2 locus. Neurology 1994; 44: 1423-6.
5. Brown S. On hereditary ataxy, with a series of twenty-one cases. Brain 1892; 15: 250-68.
6. Burk K, Abele M, Fetter M, Dichgans J, Skalej M, Laccone F, et al. Autosomal dominant cerebellar ataxia type I: clinical features and MRI in families with SCA1, SCA2 and SCA3. Brain 1996; 119: 1497-505.
7. Burk K, Stevanin G, Didierjean O, Cancel G, Trottier Y, Skalej M, et al. Clinical and genetic analysis of three German kindreds with autosomal dominant cerebellar ataxia type I linked to the SCA2 locus. J Neurol 1997; 244: 256-61.
8. Buttner-Ennever JA, Wadia NH, Sakai H, Schwendemann G. Neuroanatomy of oculomotor structures in olivopontocerebellar atrophy (OPCA) patients with slow saccades [abstract]. J Neurol 1985; 232 Suppl: 285.
9. Buttner-Ennever JA, Mahraein P, Wadia N. Neuropathological changes in oculomotor structures related to eye movements deficits in different varieties of olivopontocerebellar atrophies [abstract]. Int Congr Neuropathol 1986; 229: 411.
10. Cambier J, Masson M, Prier S. Etude electro-oculographique d'un cas d'abolition des saccades horizontales avec viscosite du regard au cours d'une heredo-degenerescence cerebelleuse. Rev Neurol. (Paris) 1978; 134: 461-70.
11. Cancel G, Stevanin G, Durr A, Chneiweiss H, Penet C, Pothin Y, et al. SCA2 is not a major locus for ADCA type 1 in French familles. Am J Med Genet 1995; 60: 382-5.
12. Cancel G, Durr A, Didierjean O, Imbert G, Burk K, Lezin A, et al. Molecular and clinical correlations in spinocerebellar ataxia 2: a study of 32 families. Hum Mol Genet 1997; 6: 709-15.
13. Currier RD, Subramony SH. Distinguishing between the adult ataxias. In: Lechtenberg R, editor. Handbook of cerebellar diseases. New York: Marcel Dekker; 1993. p. 337-43.
14. Dubourg O, Durr A, Cancel G, Stevanin G, Chneiweiss H, Penet C, et al. Analysis of the SCA1 CAG repeat in a large number of families with dominant ataxia: clinical and molecular correlations. Ann Neurol 1995; 37: 176-80.
15. Durr A, Smadja D, Cancel G, Lezin A, Stevanin G, Mikol J, et al. Autosomal dominant cerebellar ataxia type I in Martinique (French West Indies). Clinical and neuropathological analysis of 53 patients from three unrelated SCA2 families. Brain 1995; 118: 1573-81.
16. Durr A, Stevanin G, Cancel G, Duyckaerts C, Abbas N, Didierjean O, et al. Spinocerebellar ataxia 3 and Machado-Joseph disease: clinical, molecular and neuropathological features. Ann Neurol 1996; 39: 490-9.
17. Duvoisin RC. An apology and an introduction to the olivopontocerebellar atrophies. The olivopontocerebellar atrophies. Adv Neurol 1984; 41: 5-12.
18. Filla A, De Michele G, Banfi S, Santoro L, Perretti A, Cavalcanti F, et al. Has spinocerebellar ataxia type 2 a distinct phenotype? Genetic and clinical study of an Italian family. Neurology 1995; 45: 793-6.
19. Filla A, De Michele G, Campanella G, Perretti A, Santoro L, Serlenga L, et al. Autosomal dominant cerebellar ataxia type 1. Clinical and molecular study in 36 Italian families including a comparison between SCA1 and SCA2 phenotypes. J Neurol Sci 1996; 142: 140-7.
20. Friedreich N. Ueber degenerative Atrophie der spinale Hinterstränge. Versammlung deutsche Naturforsch Arzte, 1861.
21. Friedreich N. Ueber degenerative Atrophie der spinale Hinterstränge. Virchows Arch Path Anat 1863; 26: 391-419, 433-59.
22. Garcin R, Man HX. Sur la lenteur particuliere des mouvements conjugues des yeux observee frequemment dans les degenerations cerebelleuses et spino-cerebelleuses: la 'viscosite' des mouvements volontaires. Rev Neurol (Paris) 1958; 98: 672-3.
23. Gerstenbrand F, Weingarten K. A contribution to the problem of familial atrophy of the cerebellum [German]. Wein Klin Wschr 1962; 74: 702-5.
24. Geschwind DH, Perlman S, Figueroa CP, Treiman LJ, Pulst SM. The prevalence and wide clinical spectrum of the spinocerebellar ataxia type 2 trinucleotide repeat in patients with autosomal dominant cerebellar ataxia. Am J Hum Genet 1997; 60: 842-50.
25. 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.
26. 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: 1077-1085.
27. Greenfield JG. The spino-cerebellar degenerations. Oxford: Blackwell; 1954.
28. Hammans SR. The inherited ataxias and the new genetics [editorial]. [Review]. J Neurol Neurosurg Psychiatry 1996; 61: 327-32.
29. Harding AE. The hereditary ataxias and related disorders. Clinical neurology and neurosurgery monographs, Vol. 6. Edinburgh: Churchill Livingstone; 1984.
30. Horn AKE, Buttner-Ennever J, Buttner U. Saccadic premotor neurons in the brainstem: functional neuroanatomy and clinical implications. Neuro-ophthalmology 1996; 16: 229-40.
31. Hurko O. Recent advances in heritable ataxias [editorial; comment]. Ann Neurol 1997; 41: 4-6. Comment on: Ann Neurol 1997; 41: 8-16.
32. Hurko O. Recent advances in heritable ataxias [editorial; comment]. Ann Neurol 1997; 41: 4-6. Comment on: Ann Neurol 1997; 41: 8-16.
33. Ihara T, Sasaki H, Wakisaka A, Takada A, Yoshiki T, Matsuura T, et al. Genetic heterogeneity of dominantly inherited olivopontocerebellar atrophy (OPCA) in the Japanese: linkage study of two pedigrees and evidence for the disease locus on chromosome 12q (SCA2). Jpn J Hum Genet 1994; 39: 305-13.
34. Imbert G, Saudou F, Yvert G, Devys D, Trottier Y, Gamier JM, et al. Cloning of the gene for spinocerebellar ataxia 2 reveals a locus with high sensitivity to expanded CAG/glutamine repeats [see comments]. Nat Genet 1996; 14: 285-91. Comment in: Nat Genet 1996; 14: 237-8.
35. Imbert G, Saudou F, Yvert G, Devys D, Trottier Y, Gamier JM, et al. Cloning of the gene for spinocerebellar ataxia 2 reveals a locus with high sensitivity to expanded CAG/glutamine repeats [see comments]. Nat Genet 1996; 14: 285-91. Comment in: Nat Genet 1996; 14: 237-8.
36. Kanehisa Y, Suda M, Yagi K, Beppu H, Uono M. A heredo-familial spinocerebellar degeneration with slow eye movements - a study of five cases. [Japanese] Rinsho Shinkeigaku 1979: 19: 209-16.
37. Kini PM, Venugopal NS. Hereditary cerebellar ataxia - report of a family. J Ass Phys India 1967; 15: 369-71.
38. Koeppen AH, Hans MB. Supranuclear ophthalmoplegia in olivopontocerebellar degeneration. Neurology 1976; 26: 764-8.
39. Koeppen AH, Hans MB, Shepherd DI, Best PV. Adult-onset hereditary ataxia in Scotland. Arch Neurol 1977; 34: 611-8.
40. Kulkarni SA, Wadia NH. Model of an oculomotor subsystem. Int J Biomed Comput 1975; 6: 1-21.
41. Lai ML, Hung TP. A clinical study of spinocerebellar degeneration amongst Chinese in Taiwan. Bull Neurol Soc Taiwan 1979; 4: 65-7.
42. Lopes-Cendes I, Andermann E, Attig E, Cendes F, Bosch S, Wagner M, et al. Confirmation of the SCA-2 locus as an alternative locus for dominantly inherited spinocerebellar ataxias and refinement of the candidate region. Am J Hum Genet 1994; 54: 774-81.
43. Mass O, Scherer HJ. Zur Klinik und Anatomie einiger seltener Klinhirnerkrankungen. Z Gesainte Neurol Psychiat 1933; 145: 420-44.
44. Moschner C, Perlman S, Baloh RW. Comparison of oculomotor findings in the progressive ataxia syndromes. Brain 1994; 117: 15-25.
45. Murphy MJ, Goldblatt D. Slow eye movements, with absent saccades, in a patient with hereditary ataxia. Arch Neurol 1977; 34: 191-5.
46. Oppenheimer DR. Lateral horn cells in progressive autonomic failure. J Neurol Sci 1980; 46: 393-404.
47. Orozco Diaz G, Estrada R, Perry TL, Arana J, Fernandez R, Gonzalez-Quevedo A, et al. Dominantly inherited olivopontocerebellar atrophy from eastern Cuba: clinical, neuropathological and biochemical findings. J Neurol Sci 1989; 93: 37-50.
48. Orozco Diaz G, Nodarse Fleites A, Cordores Sagaz R, Auburger G. Autosomal dominant cerebellar ataxia: clinical analysis of 263 patients from a homogeneous population in Holguin, Cuba. Neurology 1990; 40: 1369-75.
49. Ozawa T, Naito M, Takasu T, Warabi T, Yamagami Y. Disorders of saccadic movements in cerebellar degeneration. Jpn J Ophthalmol 1974; 18: 363-80.
50. Pang J, Wadia NH, Chamberlain S, Mankodi AK, Desai JD, Desai MJ. Expansion at the SCA2 locus in Indian families segregating autosomal dominant cerebellar ataxia with slow saccades [abstract]. In: Abstracts of the first International Symposium on Inherited Ataxias; May 29-June 1, 1997; Montreal, Canada. Annual Montreal Neurology Meeting, Workshop 6: the dominantly inherited ataxias: clinical aspects and genotype-phenotype correlations. 1997.
51. Pang J, Wadia NH, Chamberlain S, Mankodi AK, Desai JD, Desai MJ. Expansion at the SCA2 locus in Indian families segregating autosomal dominant cerebellar ataxia with slow saccades [abstract]. In: Abstracts of the first International Symposium on Inherited Ataxias; May 29-June 1, 1997; Montreal, Canada. Annual Montreal Neurology Meeting, Workshop 6: the dominantly inherited ataxias: clinical aspects and genotype-phenotype correlations. 1997.
52. Plaitakis A. Cerebellar degenerations, In: Apple SH, editor. Current neurology, Vol. 7. Chicago: Chicago Year Book Medical Publishers; 1987. p. 159-92.
53. Pulst SM, Nechiporuk A, Starkman S. Anticipation in spino-cerebellar ataxia type 2 [letter]. Nat Genet 1993; 5: 8-10.
54. Pulst SM, Nechiporuk A, Nechiporuk T, Gispert S, Chen XN, Lopes-Cendes I, et al. Moderate expansion of a normally biallelic trinucleotide repeat in spinocerebellar ataxia type 2 [see comments]. Nat Genet 1996; 14: 269-76. Comment in: Nat Genet 1996; 14: 237-8.
55. Pulst SM, Nechiporuk A, Nechiporuk T, Gispert S, Chen XN, Lopes-Cendes I, et al. Moderate expansion of a normally biallelic trinucleotide repeat in spinocerebellar ataxia type 2 [see comments]. Nat Genet 1996; 14: 269-76. Comment in: Nat Genet 1996; 14: 237-8.
56. Rivaud-Pechoux S, Durr A, Gaymard B, Cancel G, Ploner CJ, Agid Y, et al. Eye movement abnormalities correlate with genotype in autosomal dominant cerebellar ataxia type 1. Ann Neurol 1998; 43: 297-302.
57. Rondot P, De Recondo J, Davous P, Vedrenne C. Menzel's hereditary ataxia with slow eye movements and myoclonus. A clinico-pathological study. J Neurol Sci 1983; 61: 65-80.
58. Sanpei K, Takano H, Igarashi S, Sato T, Oyake M, Sasaki H, et al. Identification of the spinocerebellar ataxia type 2 gene using a direct identification of repeat expansion and cloning technique, DIRECT [see comments]. Nat Genet 1996; 14: 277-84. Comment in: Nat Genet 1996; 14: 237-8.
59. Sanpei K, Takano H, Igarashi S, Sato T, Oyake M, Sasaki H, et al. Identification of the spinocerebellar ataxia type 2 gene using a direct identification of repeat expansion and cloning technique, DIRECT [see comments]. Nat Genet 1996; 14: 277-84. Comment in: Nat Genet 1996; 14: 237-8.
60. Sasaki H, Wakisaka A, Tashiro K, Hamada K, Shima K. Clinical study of gene locus heterogeneity in hereditary olivopontocerebellar atrophy (OPCA)-Report of 2 pedigrees affected with non SCA1 type OPCA. [Japanese] Rinsho Shinkeigaku 1991; 31: 1170-6
61. Sears ES, Hammerberg EK, Norenberg MD, Wilson B, Nellhaus G. Supranuclear ophthalmoplegia and dementia in olivopontocerebellar atrophy: a clinicopathologic study [abstract]. Neurology 1975; 25: 395.
62. Sharpe JA. Global paresis of saccadic eye movements in spinocerebellar degeneration [abstract]. Can J Neurol Sci 1976; 3: 155-6.
63. Sigwald JA, Lapresle J, Raverdy P, Recondo J. Atrophie cerebelleuse familiale avec association de lesions nigeriennes et spinales. Rev Neurol (Paris) 1963; 109: 571-3.
64. Sigwald JA, Lapresle J, Raverdy P, Recondo J. Atrophie cerebelleuse familiale avec association de lesions nigeriennes et spinales. Presse Med 1964; 72: 557-62.
65. Singh BM, Ivamoto H, Strobos RJ. Slow eye movements in spinocerebellar degeneration. Am J Ophthalmol 1973; 76: 237-40.
66. Sinha KK, Birendra Singh KSH. A clinical study of primary spinocerebellar ataxias in eastern India. Neurology (India) 1989; 37: 619-27.
67. Sinha KK, Bhatia KP, Sweeney M, Davis MB, Banerjee A, Jha DK, et al. The frequency and phenotype-genotype correlation in 18 families with autosomal dominant cerebellar ataxia type 1 (ADCA-1) from eastern India [abstract]. Neurology 1998; 50 Suppl 4: A170.
68. Starkman S, Kaul S, Fried J, Behrens M. Unusual abnormal eye movements in a family with hereditary spinocerebellar degeneration [abstract]. Neurology 1972; 22: 402.
69. Wadia NH. Heredo-familial spinocerebellar degeneration with slow eye movements-another variety of olivopontocerebellar degeneration. Neurol India 1977; 25: 147-60.
70. Wadia NH. A variety of olivopontocerebellar atrophy distinguished by slow eye movements and peripheral neuropathy. Adv Neurol 1984; 41: 149-77.
71. Wadia NH. Autosomal dominant cerebellar ataxia with slow Saccades and peripheral neuropathy - a variety of olivopontocerebellar degeneration (Wadia type). In: Vinken PJ, Bruyn GW, Klawans HL, editors. Handbook of clinical neurology, Vol. 60. Amsterdam: Elsevier Science; 1991. p. 491-504.
72. Wadia NH. A common variety of hereditary ataxia in India. In: Lechtenberg R, editor. Handbook of cerebellar diseases. New York: Marcel Dekker; 1993a. p. 373-88.
73. Wadia NH. Hereditary cerebellar ataxia with slow eye movements (Indian variety) - genetic linkage study [abstract]. In: Abstracts of the International Workshop on Molecular Genetics of Friedreichs and Dominant Ataxias; June 20-22, 1993; Capri, Naples, Italy. Jean gilder congressi SNR; 1993b: p. 59.
74. Wadia NH, Swami RK. A new form of heredo-familial spinocerebellar degeneration with slow eye movements (nine families). Brain 1971; 94: 359-74.
75. Wadia NH, Irani PF, Mehta LN, Purohit AV. Evidence of peripheral neuropathy in a variety of heredofamilial olivopontocerebellar degeneration frequently seen in India. In: Sobue I, editor. Proceedings of the International Symposium on Spinocerebellar degenerations. Tokyo: University of Tokyo Press; 1980. p. 239-50.
76. Wadia NH, Chamberlain S, Desai JD, Mankodi AK, Desai MJ, Twells R. Hereditary cerebellar ataxia with slow saccades-(SCA2)-more prevalent in India [abstract]. In: Abstracts of the first International Symposium on Inherited Ataxias; May 29-June 1, 1997; Montreal, Canada, Annual Montreal Neurology Meeting. Workshop 6: the dominantly inherited ataxias: clinical aspects and genotype-phenotype correlations. 1997.
77. Wadia NH, Chamberlain S, Desai JD, Mankodi AK, Desai MJ, Twells R. Hereditary cerebellar ataxia with slow saccades-(SCA2)-more prevalent in India [abstract]. In: Abstracts of the first International Symposium on Inherited Ataxias; May 29-June 1, 1997; Montreal, Canada, Annual Montreal Neurology Meeting. Workshop 6: the dominantly inherited ataxias: clinical aspects and genotype-phenotype correlations. 1997.
78. Wadia RS, Amin RB, Divate UP, Divate PG, Sainani GS, Sardesai HV. Autosomal dominant spinocerebellar ataxia with slow eye movements - a common hereditary ataxia in western India. J Assoc Physicians India 1976; 24: 367-71.
79. Zee DS, Optican LM, Cook JD, Robinson DA, Engel WK. Slow saccades in spinocerebellar degeneration. Arch Neurol 1976a; 33: 243-51.
80. Zee DS, Yee RD, Cogan DG, Robinson DA, Engel WK. Ocular motor abnormalities in hereditary cerebellar ataxia. Brain 1976b; 99: 207-34.