Machado-Joseph disease in three Scandinavian families

Journal of the Neurological Sciences

Volumn 156, Issue 2, 1998, Pages 152-157

  Lokkegaard T ^a   Nielsen, J E ^a   Hasholt, L ^a   Fenger, K ^a   Werdelin, L ^b   Tranebjaerg L ^c   Lauritzen, M ^d   Colding Jorgensen E ^d   Gronbech Jensen M ^e   Henriksen, O A ^f   Sorensen S A ^a  

^a UNIVERSITY OF COPENHAGEN   (Denmark)

^b FREDERIKSBERG HOSPITAL   (Denmark)

^c Geriatric section   (Norway)

^d GLOSTRUP UNIVERSITY HOSPITAL   (Denmark)

^e GENTOFTE UNIVERSITY HOSPITAL   (Denmark)

^f NORDLAND HOSPITAL   (Norway)

Author keywords

CAG repeat instability; Dementia; Machado Joseph disease; Pain; Trinucleotide expansion

Indexed keywords

ADULT; AGED; ARTHRALGIA; ARTICLE; ATAXIA; AUTOSOMAL DOMINANT INHERITANCE; BRAIN ATROPHY; CLINICAL ARTICLE; DEMENTIA; DENMARK; EXTERNAL OPHTHALMOPLEGIA; FEMALE; HUMAN; INFERIOR OLIVE; MACHADO JOSEPH DISEASE; MALE; MYALGIA; NORWAY; NYSTAGMUS; PRIORITY JOURNAL; SCANDINAVIA; TRINUCLEOTIDE REPEAT;

ADULT; AGED; DEMENTIA; FEMALE; HUMANS; MACHADO-JOSEPH DISEASE; MALE; MIDDLE AGED; NERVE TISSUE PROTEINS; NUCLEAR PROTEINS; PEDIGREE; PHENOTYPE; REPRESSOR PROTEINS; SCANDINAVIA; TRINUCLEOTIDE REPEATS;

EID: 0032053881     PISSN: 0022510X     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0022-510X(98)00081-1     Document Type: Article

References (24)

1. Andrew S.E., Goldberg Y.P., Kremer B., Telenius H., Theilmann J., Adam S., Starr E., Squitieri F., Lin B., Kalchman M.A., Graham R.K., Hayden M.R. The relationship between trinucleotide (CAG) repeat length and clinical features of Huntington's disease. Nat. Genet. 4:1993;398-403.
2. Chung M.-Y., Ranum L.P.W., Duvick L.A., Servadio A., Zoghbi H.Y., Orr H.T. Evidence for a mechanism predispposing to intergenerational CAG repeat instability in spinocerebellar ataxia type 1. Nat. Genet. 5:1993;254-258.
3. Colding-Jørgensen E., Sørensen S.A., Hashot L., Lauritzen M. Electrophysiological findings in a Danish family with Machado-Joseph disease. Muscle Nerve. 19:1996;743-750.
4. Coutinho P., Andrade C. Autosomal dominant system degeneration in Portuguese families of the Azores Islands. Neurology. 28:1978;703-709.
5. Duyao M., Ambrose C., Myers R., Novelletto A., Persichetti F., Frontali M., Folstein S., Ross C., Franz M., Abbott M., Gray J., Conneally P., Young A., Penney J., Hollingsworth Z., Shoulson I., Lazzarini A., Falek A., Koroshetz W., Sax D., Bird E., Vonsattel J., Bonilla E., Alvir J., Conde J.B., Cha J.-H., Dure L., Gomez F., Ramos M., Sanchez-Ramos J., Snodgrass S., de Young M., Wexler N., Moscowitz C., Penchaszadeh G., MacFarlane H., Anderson M., Jenkins B., Srindhi J., Barnes G., Gusella J., MacDonald M. Trinucleotide repeat length instability and age of onset in Huntington's disease. Nat. Genet. 4:1993;387-392.
6. Eichler E.E., Holden J.J., Popovich B.W., Reiss A.L., Snow K., Thibodeau S.N., Richards C.S., Ward P.A., Nelson D.L. Length of uninterrupted CGG repeats determines the instability in the FMR1 gene. Nat. Genet. 8:1994;88-94.
7. Giunti P., Sweeny M.G., Harding A.E. 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. 118:1995;1077-1085.
8. Haberhausen G., Damian M.S., Leweke F., Müller U. Spinocerebellar ataxia, type 3 (SCA3) is genetically identical to Machado-Joseph disease (MJD). J. Neurol. Sci. 132:1995;71-75.
9. Kawagushi Y., Okamoto T., Taniwaki M., Aizawa M., Inoue M., Katayama S., Kawakami H., Nakamura S., Nishimura M., Akiguchi I., Kimura J., Narumiya S., Kakizuka A. CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1. Nat. Genet. 8:1994;221-228.
10. Koide R., Ikeuchi T., Onodera O., Tanaka H., Igarashi S., Endo K., Takahashi H., Kondo R., Ishikawa A., Hayashi T., Saito M., Tomoda A., Miike T., Naito H., Ikuta F., Tsuji S. Unstable expansion of CAG repeat in hereditary dentatorubral-pallidoluysian atrophy (DRPLA). Nat. Genet. 6:1994;9-12.
11. La Spada A.R., Roling D.B., Harding A.E., Warner C.L., Spiegel R., Petrusewicz I.H., Yee W.-C., Fischbeck K.H. Meiotic stability and genotype-phenotype correlation of the trinucleotide repeat in X-linked spinal and bulbar muscular atrophy. Nat. Genet. 2:1992;301-304.
12. Maruyama H., Nakamura S., Matsuyama Z., Sakai T., Doyu M., Sobue G., Seto M., Tsujihata M., Oh-i T., Nishio T., Sunohara N., Takashi R., Hayashi M., Nishino I., Ohtake T., Oda T., Nishimura M., Saida T., Matsumoto H., Baba M., Kawagushi Y., Kakaizuka A., Kawakami H. Molecular features of the CAG repeats and clinical manifestation of Machado-Joseph disease. Hum. Mol. Genet. 4:1995;807-812.
13. Miller S.A., Dykes D.D., Polesky H.F. A simple salting out method procedure for extracting DNA from human nucleated cells. Nucleic Acids Res. 16:1988;1215.
14. Nagafuchi S., Yanagisawa H., Sato K., Shirayama T., Ohsaki E., Bundo M., Takeda T., Tadokoro K., Kondo I., Murayama N., Tanaka Y., Kikushima H., Umino K., Kurosawa H., Furukawa T., Nihei K., Inoue T., Sano A., Komure O., Takahashi M., Yoshizawa I., Kanazawa I., Yamada M. Dentatorubral and pallidoluysian atrophy expansion of an unstable CAG trinucleotide on chromosome 12p. Nat. Genet. 6:1994;14-18.
15. Nakano K.K., Dawson D.M., Spence A. Machado disease - a hereditary ataxia in Portuguese emigrants to Massachusetts. Neurology. 22:1972;49-55.
16. Nørremølle A., Sørensen S.A., Fenger K., Hasholt L. Correlation between magnitude of CAG repeat length alterations and length of the paternal repeat in paternally inherited Huntington's disease. Clin. Genet. 47:1995;113-117.
17. Orr H.T., Chung M.-Y., Banfi S., Kwiatkowski T.J., Servadio A., Beaudet A.L., McCall A.E., A Duvick L., Ranum L.P.W., Zoghbi H.Y. Expansion of an unstable CAG repeat in spinocerebellar ataxia type I. Nat. Genet. 4:1993;221-225.
18. Pedersen L. Hereditary ataxia in a large Danish pedigree. Clin. Genet. 17:1980;385-393.
19. Rosenberg R.N., Nyhan W.L., Coutinho P., Bay C. Joseph's disease: An autosomal dominant neurological disease in the Portuguese of the United States and the Azores Islands. Adv. Neurol. 21:1978;33-57.
20. Rosenberg R.N. Machado-Joseph Disease: An autosomal dominant motor system degeneration. Mov. Disord. 7:1992;193-203.
21. Sequeiros J., Coutinho P. Epidemiology and clinical aspects of Machado-Joseph disease. Adv. Neurol. 61:1993;139-153.
22. Snell R.G., MacMillan J.C., Cheadle J.P., Fenton I., Lazarou L.P., Davies P., MacDonald M.E., Gusella J.F., Harper P.S., Shaw D.J. Relationship between trinucleotide repeat expansion and phenotypic variation in Huntington's disease. Nat. Genet. 4:1993;393-397.
23. Takiyama Y., Oyanagi S., Kawashima S., Salsamoto H., Saito K., Yoshida M., Tsuji S., Mizuno Y., Nishizawa M. A clinical and pathological study of a large Japanese family with Machado-Joseph Disease tightly linked to the DNA markers on chromosome 14q. Neurology. 44:1994;1302-1308.
24. Takiyama Y., Igarashi S., Rogaeva E.A., Endo K., Rogaev E.I., Tanaka H., Sherrington R., Sanpei K., Liang Y., Saito M., Tsuda T., Takano H., Ikeda M., Lin C., Chi H., Kennedy J.L., Lang A.E., Wherret J.R., Segawa M., Nomura Y., Yuasa T., Weissenbach J., Yoshida M., Nishizawa M., Kidd K.K., Tsuji S., St. George-Hyslop P.H. Evidence for inter-generational instability in the CAG repeat in the MJD1 gene and for conserved haplotypes at flanking markers amongst Japanese and Caucasian subjects with Machado-Joseph disease. Hum. Mol. Genet. 4:1995;1137-1146.