Atypical parkinsonism in a family of Portuguese ancestry: Absence of CAG repeat expansion in the MJD1 gene

Neurology

Volumn 48, Issue 5, 1997, Pages 1285-1290

  Sutton, James P ^a,b   Pulst, Stefan M ^a  

^a UNIVERSITY OF CALIFORNIA   (United States)

^b CEDARS SINAI MEDICAL CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ADENINE; CYTOSINE; GUANINE; LEVODOPA; REPETITIVE DNA;

ADULT; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CHROMOSOME 14Q; CLINICAL ARTICLE; CLINICAL FEATURE; FEMALE; HUMAN; MACHADO JOSEPH DISEASE; MALE; PARKINSONISM; PEDIGREE; PORTUGAL; PRIORITY JOURNAL;

EID: 0030960845     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/WNL.48.5.1285     Document Type: Article

References (35)

1. Nakano KK, Dawson DM, Spence A. Machado disease: a hereditary ataxia in Portuguese emigrants to Massachusetts. Neurology 1972;22:49-55.
2. Woods BT, Schaumburg HH. Nigro-spino-dentatal degeneration with nuclear ophthalmoplegia: a unique and partially treatable clinico-pathological entity. J Neurol Sci 1972;17: 149-166.
3. Rosenberg RN, Nyhan WL, Bay C, Shore P. Autosomal dominant striatonigral degeneration: a clinical, pathologic, and biochemical study of a new genetic disorder. Neurology 1976;26: 703-714.
4. Romanul FCA, Fowler HL, Radvany J, Feldman RG, Feingold M. Azorean disease of the nervous system. N Engl J Med 1977;296:1505-1508.
5. Lima L, Coutinho P. Clinical criteria for diagnosis of Machado-Joseph disease: report of a non-Azorean Portuguese family. Neurology 1980;30:319-322.
6. Healton EB, Brust JCM, Kerr DL, Resor S, Penn A. Presumably Azorean disease in a presumably non-Portuguese family. Neurology 1980;30:1084-1089.
7. Sakai T, Ohta MO, Ishino H. Joseph disease in a non-Portuguese family. Neurology 1983;33:74-80.
8. Radvany J, Camargo CH, Costa ZM, Fonseca NC, Nascimento ED. Machado-Joseph disease of Azorean ancestry in Brazil: the Catarina kindred. Neurological, neuroimaging, psychiatric and neuropsychological findings in the largest known family, the "Catarina" kindred. Arq Neuropsiquiatr 1993;51:21-30.
9. Burt T, Blumbergs P, Currie B. A dominant hereditary ataxia resembling Machado-Joseph disease in Arnhem Land, Australia. Neurology 1993;43:1750-1752.
10. Takiyama Y, Oyanagi S, Kawashima S, 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;44:1302-1308.
11. Goldberg-Stern H, Djaldetti R, Melamed E, Gadoth N. Machado-Joseph (Azorean) disease in a Yemenite Jewish family in Israel. Neurology 1994;44:1298-1301.
12. Zhao JB, Wang TL, Wang GX. The pathology of Joseph's disease in a Chinese family: a report of two autopsy cases. Chin J Pathol 1994;23:232-234.
13. Stevanin G, Le-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 fourth locus. Am J Hum Genet 1994;54:11-20.
14. Kawaguchi Y, Okamoto T, Taniwaki M, et al. CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1. Nat Genet 1994;8:221-228.
15. Maciel P, Gaspar C, DeStefano AL et al. Correlation between CAG repeat length and clinical features in Machado-Joseph disease. Am J Hum Genet 1995;57:54-61.
16. Kawakami H, Maruyama H, Nakamura S, et al. Unique features of the CAG repeats in Machado-Joseph disease [letter]. Nat Genet 1995;9:344-345.
17. Maruyama H, Nakamura S, Matsuyama Z, et al. Molecular features of the CAG repeats and clinical manifestation of Machado-Joseph disease. Hum Mol Genet 1995;4:807-812.
18. Matilla T, McCall A, Subramony SH, Zoghbi HY. Molecular and clinical correlations in spinocerebellar ataxia type 3 and Machado-Joseph disease. Ann Neurol 1995;38:68-72.
19. Rosenberg RN. Machado-Joseph disease: an autosomal dominant motor system degeneration. Mov Disord 1992;7:193-203.
20. Tuite PJ, Rogaeva EA, St George-Hyslop PH, Lang AE. Doparesponsive parkinsonism phenotype of Machado-Joseph disease: confirmation of 14q CAG expansion. Ann Neurol 1995; 38:684-687.
21. Nechiporuk A, Lopes-Cendes I, Nechiporuk T, et al. Genetic mapping of the spinocerebellar ataxia type 2 gene on human chromosome 12. Neurology 1996;46:1731-1735.
22. Sudarsky L, Coutinho P. Machado-Joseph disease. Clin Neurosci 1995;3:17-22.
23. Sudarsky LS, Corwin L, Dawson DM. Machado-Joseph disease in New England: clinical description and distinction from the olivopontocerebellar atrophies. Mov Disord 1992;7:204-208.
24. Sequeiros J, Coutinho P. Epidemiology and clinical aspects of Machado-Joseph disease. In Harding AE, Deufel T, eds. Advances in Neurology, vol 61. New York: Raven Press, 1993: 139-153.
25. Golbe LI, Di Iorio G, Bonavita V, Miller DC, Duvoisin RC. A large kindred with autosomal dominant Parkinson's disease. Ann Neurol 1990;27:276-282.
26. Vieregge P. Genetic factors in the etiology of idiopathic Parkinson's disease. J Neural Trans 1994;8:1-37.
27. Markopoulo K, Wszolek ZK, Pfeiffer RF. A Greek-American kindred with autosomal dominant, levodopa-responsive parkinsonism and anticipation. Ann Neurol 1995;38:373-378.
28. Nisipeanu P, Kuritzki A, Korczyn AD. Familial levodopa-responsive parkinsonian-pyramidal syndrome. Mov Disord 1994;9:673-675.
29. Laxova R, Brown ES, Hogan K, Hecox K, Opitz JM. An X-linked recessive basal ganglia disorder with mental retardation. Am J Med Genet 1985;21:681-689.
30. Tetrud JW, Golbe LI, Forno LS, Farmer PM. Autopsy-proven progressive supranuclear palsy in two siblings. Neurology 1996;46:931-934.
31. Perry TL, Wright JM, Berry K, Hansen S, Perry TL. Jr. Dominantly inherited apathy, central hypoventilation and Parkinson's syndrome: clinical, biochemical and neuropathological studies of 2 new cases. Neurology 1990;40:1882-1887.
32. Wilhelmsen KC, Wszolek ZK, Currier RC, Lanska DJ. The clinical spectrum of chromosome 17q21-22-linked degenerative syndromes [abstract]. Neurology 1996;46(suppl 2):A188.
33. Lynch T, Sano M, Marder KS, et al. Clinical characteristics of a family with chromosome 17-linked disinhibition-dementia-parkinsonism-amyotrophy complex. Neurology 1994;44:1878-1884.
34. Wilhelmsen KC, Lynch T, Pavlou E, Higgins M, Nygaard TG. Localization of disinhibition-dementia-parkinsonism-amyotrophy complex to 17q21-22. Am J Hum Genet 1994;55: 1159-1165.
35. Lanska DJ, Currier RD, Cohen M, et al. Familial progressive subcortical gliosis. Neurology 1994;44:1633-1643.