Autosomal dominant cerebellar ataxia type I. Clinical and molecular study in 36 Italian families including a comparison between SCA1 and SCA2 phenotypes

Journal of the Neurological Sciences

Volumn 142, Issue 1-2, 1996, Pages 140-147

  Filla, Alessandro ^a   De Michele, Giuseppe ^a   Campanella, Giuseppe ^a   Perretti, Anna ^a   Santoro, Lucio ^a   Serlenga, Luigi ^b   Ragno, Michele ^c   Calabrese, Olga ^d   Castaldo, Imma ^d   De Joanna, Gabriella ^a   Cocozza, Sergio ^a  

^a UNIVERSITY OF NAPLES FEDERICO II   (Italy)

^b UNIVERSITY OF BARI   (Italy)

^c Dept of Clin Neurol of Ascoli P ^*  (Italy)

^d Mediterranean Institute of Neuroscience   (Italy)

Author keywords

anticipation; autosomal dominant cerebellar ataxia; MRI; SCA1; SCA2

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CEREBELLAR ATAXIA; CHILD; CONTROLLED STUDY; FAMILIAL DISEASE; FEMALE; HUMAN; MAJOR CLINICAL STUDY; MALE; PRIORITY JOURNAL;

EID: 0030272050     PISSN: 0022510X     EISSN: None     Source Type: Journal    
DOI: 10.1016/0022-510X(96)00177-3     Document Type: Article

References (33)

1. Belal, S., Cancel, G., Stevanin, G., et al. (1994) Clinical and genetic analysis of a Tunisian family with autosomal dominant cerebellar ataxia type 1 linked to the SCA2 locus. Neurology, 44: 1423-1426.
2. Campanella, G., Filla, A., De Falco, F.A., et al. (1980) Friedreich's ataxia in the south of Italy: a clinical and biochemical survey of 23 patients. Can. J. Neurol. Sci., 7: 351-358.
3. Canter, G.J., De La Tone, R., Mier, M. (1961) A method for evaluating disability in patients with Parkinson's disease. J. Nerv. Ment. Dis., 133: 143-147.
4. Chung, M., Ranum, L.P.W., Duvick, L.A., et al. (1993) Evidence for a mechanism predisposing to intergenerational CAG repeat instability in spinocerebellar ataxia type I. Nature Genet., 5: 254-258.
5. De Michele, G., Di Salle, F., Filla, A., et al. (1995) Magnetic resonance imaging in 'typical' and 'late onset' Friedreich's disease and early onset cerebellar ataxia with retained tendon reflexes. Ital. J. Neurol. Sci., 16: 303-308.
6. Dubourg, O., Dürr, A., Cancel, G., et al. (1995) Analysis of the SCA1 CAG repeat in a large number of families with dominant ataxia: clinical and molecular correlations. Ann. Neurol., 37: 176-180.
7. Dürr, A., Chneiweiss, H., Khati, C., et al. (1993) Phenotypic variability in autosomal dominant cerebellar ataxia type I is unrelated to genetic heterogeneity. Brain, 116: 1497-1508.
8. Filla, A., De Michele, G., Banfi, S., et al. (1995) Has spinocerebellar ataxia type 2 a distinct phenotype? Genetic and clinical study of an Italian family. Neurology, 45: 793-796.
9. Gardner, K., Alderson, K., Gallster, B., et al. (1994) Autosomal dominant spinocerebellar ataxia: clinical description of a distinct hereditary ataxia and genetic localization to chromosome 16 (SCA 4) in a Utah kindred. Neurology, 44 (suppl 2): A361.
10. Gispert, S., Twells, R., Orozco Diaz, G., et al. (1993) Chromosomal assignement of the second locus for autosomal dominant cerebellar ataxia (SCA2) to chromosome 12q23-24.1. Nature Genet., 4: 295-299.
11. Giunti, P., Sweeney, M.G., Spadaro, M., et al. (1994) The trinucleotide repeat expansion on chromosome 6p (SCA1) in autosomal dominant cerebellar ataxia. Brain, 117: 645-649.
12. Gyapay, G., Morisette, J., Vignal, A., et al. (1994) The 1993-94 Genethon Human Genetic linkage map. Nature Genet., 7: 246-339.
13. Harding, A.E. (1982) The clinical features and classification of the late onset autosomal dominant cerebellar ataxias. A study of eleven families, including descendants of 'the Drew family of Walworth'. Brain, 105: 1-28.
14. Harding, A.E. (1983) Classification of the hereditary ataxias and paraplegias. Lancet, i: 1151-1155.
15. Jodice, C., Frontali, M., Persichetti, F., et al. (1993) The gene for spinal cerebellar ataxia 1 (SCA1) is flanked by two closely linked highly polymorphic microsatellite loci. Hum. Mol. Genet., 2: 1383-1387.
16. Kawaguchi, Y., Okamoto, T., Masafuni, T et al. (1994) CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1. Nature Genet., 8: 221-228.
17. Lathrop, G.M., Lalouel, J.M., Julier, C., Ott, J. (1985) Multilocus linkage analysis in humans; detection of linkage and estimation of recombination. Am. J. Hum. Genet., 37: 482-498.
18. Lopes-Cendes, I., Andermann, E., Attig, E., et al. (1994) 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., 54: 774-781.
19. Maniatis, T., Fritsch, E.F., Sambrook, J. (1982) Molecular Cloning. A Laboratory Manual. Cold Spring Harbor Laboratory, Cold Spring Harbor.
20. Ormerod, I.E.C., Harding, A.E., Miller, D.H., et al. (1994) Magnetic resonance imaging in degenerative ataxic disorders. J. Neurol. Neurosurg. Psychiatr., 57: 51-57.
21. Orozco Diaz, G., Nodarse Fleites, A., Cordovés Sagaz, R., Auburger, G. (1990) Autosomal dominant cerebellar ataxia: clinical analysis of 263 patients from a homogeneous population in Holguin, Cuba. Neurology, 40: 1369-1375.
22. Orr, H.T., Chung, M., Bunfi, S., et al. (1993) Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1. Nature Genet., 4: 221-226.
23. Ott, J. (1991) Analysis of human genetic linkage. Johns Hopkins University Press, Baltimore.
24. Pulst, SM., Nechiporuk, A., Starkman, S. (1993) Anticipation in spinocerebellar ataxia type 2. Nature Genet., 5: 8-10.
25. Ranum, L.P.W., Duvick, L.A., Rich, S.S., et al. (1991) Localization of the autosomal dominant HLA-linked spinocerebellar ataxia (SCA1) locus, in two kindreds, within an 8-cM subregion of chromosome 6p. Am. J. Hum. Genet., 49: 31-41.
26. Ranum, L.P.W., Schut, L.J., Lundgren, J.K., et al. (1994a) Spinocerebellar ataxia type 5 in a family descended from the grandparents of president Lincoln maps to chromosome 11. Nature Genet., 8: 280-284.
27. Ranum, L.P.W., Chung, M., Banfi, S., et al. (1994b) Molecular and clinical correlations in spinocerebellar ataxia type I: evidence for familial effects on the age at onset. Am. J. Hum. Genet., 55: 244-25.
28. Ranum, L.P.W., Lundgren, J.K., Schut, L.J., et al. (1995) Spinocerebellar ataxia type I and Machado-Joseph disease: incidence of CAG expansions among adult-onset ataxia patients from 311 families with dominant, recessive, or sporadic ataxia. Am. J. Hum. Genet., 57: 603-608.
29. Rosenberg, R.N. (1995) Autosomal dominant cerebellar phenotype: the genotype has settled the issue. Neurology, 45; 1-5.
30. Stevanin, G., Le Guern, E., Ravisé, N., et al. (1994) 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., 54: 11-20.
31. Takiyama, Y., Nishizawa, M., Tanaka, H., et al. (1993) The gene for Machado-Joseph disease maps to human chromosome 14q. Nature Genet., 4: 300-303.
32. Weissenbach, J., Gyapay, G., Dib, C., et al. (1992) A second generation linkage map of the human genome. Nature, 359: 794-801.
33. Zoghbi, H.Y., Pollack, M.S., Lyons, L.A., et al. (1988) Spinocerebellar ataxia: variable age of onset and linkage to human leukocyte antigen in a large kindred. Ann. Neurol., 23: 580-584.