Dominantly inherited cerebello-olivary atrophy is not due to a mutation at the spinocerebellar ataxia-I, Machado-Joseph disease, or dentato-rubro-pallido-luysian atrophy locus

Movement Disorders

Volumn 11, Issue 2, 1996, Pages 174-180

  Subramony, S H ^a   Fratkin, J D ^a   Manyam, B V ^b   Currier, R D ^a  

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

^b SOUTHERN ILLINOIS UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

Ataxia; Cerebello olivary atrophy; Mutation

Indexed keywords

ADULT; ARTICLE; ATAXIA; BRAIN ATROPHY; CEREBELLUM ATROPHY; DENTATORUBROPALLIDOLUYSIAN ATROPHY; DNA DETERMINATION; DOMINANT INHERITANCE; FAMILY STUDY; FEMALE; GENE MUTATION; GENETIC HETEROGENEITY; HUMAN; HUMAN CELL; HUMAN TISSUE; LEUKOCYTE; MACHADO JOSEPH DISEASE; MALE; NEUROPATHOLOGY; OLIVARY NUCLEUS; ONSET AGE; PHENOTYPE; PRIORITY JOURNAL;

ADULT; AGED; AGED, 80 AND OVER; BRAIN; DIAGNOSIS, DIFFERENTIAL; DNA MUTATIONAL ANALYSIS; FEMALE; FOLLOW-UP STUDIES; GENES, DOMINANT; HUMANS; MACHADO-JOSEPH DISEASE; MAGNETIC RESONANCE IMAGING; MALE; MIDDLE AGED; OLIVOPONTOCEREBELLAR ATROPHIES; PHENOTYPE; SPINAL CORD; SPINOCEREBELLAR DEGENERATIONS;

EID: 0029882009     PISSN: 08853185     EISSN: None     Source Type: Journal    
DOI: 10.1002/mds.870110210     Document Type: Article

References (27)

1. Eadie MJ. Cerebello-olivary atrophy (Holmes type). In: Vinken PJ, Bruyn GW, eds. Systems disorders and atrophies, Part I. Handbook of clinical neurology. Vol 21, Chapter 19. Amsterdam: North Holland Publishing, 1975:403-414.
2. Holmes G. A form of familial degeneration of the cerebellum. Brain 1907;30:466-489.
3. Coutinho P, Andrade C. Autosomal dominant system degeneration in Portuguese families of the Azores Islands. Neurology 1978;28:703-709.
4. Stevanin G, Guern E, Ravise N, et al. A third locus for autosomal dominant cerebellar ataxia type I maps to chromosome 14q24.3-qter: evidence for the existence of a 4th locus. Am J Hum Genet 1994;54:11-20.
5. Schut JW. Hereditary ataxia, clinical study through six generations. Arch Neurol Psychiatry 1950;63:535-568.
6. Boller F, Segarra JM. Spinopontine degeneration. Eur Neurol 1969;2:356-373.
7. Pogacar S, Ambler M, Konklin WJ, O'Neil WA, Lee HY. Dominant spinopontine atrophy, report of two additional members of family W. Arch Neurol 1978;35:156-162.
8. Orr H, Chung M, Banfi S, et al. Expansion of an unstable tri-nucleotide CAG repeat in spinocerebellar ataxia, type I. Nat Genet 1993;4:221-226.
9. Kawaguchi Y, Okamoto T, Masafumi T, et al. CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1. Nat Genet 1994;8:221-228.
10. Koide R, Ikeuchi T, Onodera O, et al. Unstable expansion of CAG repeat in hereditary dentatorubral-pallidoluysian atrophy (DRPLA). Nat Genet 1994;6:14-18.
11. 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 II. Nat Genet 1994;8:280-284.
12. Ranum LPW, Chung MY, Banfi S, et al. Molecular and clinical correlations in spinocerebellar ataxia, type I: evidence for familial effects on the age at onset. Am J Hum Genet 1994;55:244-252.
13. Gispert S, Twells R, Orozsco G, et al. Chromosomal assignment of the second locus for autosomal dominant cerebellar ataxia (SCA-2) to chromosome 12q23-24.1. Nat Genet 1993; 4:295-299.
14. Gardner K, Elderson K, Galster B, et al. Autosomal dominant spinocerebellar ataxia: clinical description of a distinct hereditary ataxia and genetic localization to chromosome 16 (SCA-4) in a Utah kindred. Neurology 1994;44(suppl 2): A361.
15. Akelaitis AJ. Hereditary form of parenchymatous atrophy of the cerebellar cortex associated with mental deterioration. Am J Psychiatry 1938;94:1115-1137.
16. Hall B, Noad KB, Latham O. Familial cortical cerebellar atrophy. Brain 1941;64:178-194.
17. Richter RB. Late cortical cerebellar atrophy. A form of hereditary cerebellar ataxia. Am J Hum Genet 1950;2:1-29.
18. Bielschowsky M, Bouman L, Sillevissmitt WG. Ueber eine ungewohnliche Form von cerebellaren Heredo-Ataxie. J Psychiatr Neurol 1934;51:1-15.
19. Van Bogaert L. Sur une atrophie cerebelleuse tardive du type Marie-Foix-Alajouanine hereditaire et familiale avec une atrophie pallidale partielle cliniquement muette. J Belge Neurol Psychiatry 1947;47:268-286.
20. Parkes F, Greenfield JG. Cerebello-olivary degeneration: an example of heredo-familial incidence. Brain 1942;65:220-231.
21. Hoffman PM, Stewart WH, Earle KM, et al. Hereditary late onset cerebellar degeneration. Neurology 1971;21:771-777.
22. Bonni A, Carpio-O'Donovan RD, Robitaille Y, et al. Magnetic resonance imaging in the diagnosis of dominantly inherited cerebello-olivary atrophy: a clinicopathologic study. J Assoc Can Radiol 1993;44:194-198.
23. Hall B, Noad KB, Latham O. Familial cortical cerebellar atrophy: a contribution to the study of heredofamilial cerebellar disease in Australia. Med J Aust 1945;1:101-108.
24. Spadaro M, Giunti P, Colazza G, et al. Clinical study of large kindreds with autosomal dominant HLA linked spinocerebellar ataxia (SCA-1) of late onset. Ital J Neurol Sci 1993; 14:17-21.
25. Bebin EM, Bebin J, Currier RD, et al. Morphometric studies in dominant olivopontocerebellar atrophy. Arch Neurol 1990;47:188-192.
26. Subramony SH, Bock HGO, Smith SC, Currier RD. Presumed Machado-Joseph disease: 4 kindreds from Mississippi. In: Lechtenberg R, ed. Handbook of cerebellar disease. New York: Marcel Dekker, 1993:353-362.
27. Sachdev HS, Forno LS, Cane CA. Joseph disease: a multisystem degenerative disorder of the nervous system. Neurology 1982;32:192-195.