Genetic analysis of SCA2, 3 and 17 in idiopathic Parkinson's disease

Neuroscience Letters

Volumn 403, Issue 1-2, 2006, Pages 11-14

  Lim, S W ^a,e   Zhao, Y ^a   Chua, E ^a   Law, H Y ^e   Yuen, Y ^a   Pavanni, R ^a,b   Wong, M C ^a,b   Ng, I S ^e   Yoon, C S ^d   Puong, K Y ^a   Lim, S H ^a,b   Tan, E K ^a,b,c  

^a SINGAPORE GENERAL HOSPITAL   (Singapore)

^b National Neuroscience Institute   (Singapore)

^c Singapore Health Services   (Singapore)

^d KK WOMEN'S AND CHILDREN'S HOSPITAL   (Singapore)

^e SCHOOL OF ENGINEERING   (Singapore)

Author keywords

Parkinson's disease; Parkinsonism; SCA17; SCA2; SCA3

Indexed keywords

ATAXIN 3; BRAIN PROTEIN; SPINOCEREBELLAR ATAXIA 2 PROTEIN; TATA BINDING PROTEIN; UNCLASSIFIED DRUG;

ADULT; ARTICLE; CHINESE; CLINICAL EXAMINATION; COHORT ANALYSIS; CONTROLLED STUDY; COST EFFECTIVENESS ANALYSIS; DIFFERENTIAL DIAGNOSIS; FAMILIAL DISEASE; FEMALE; GENE MUTATION; GENETIC ANALYSIS; GENETIC SCREENING; HUMAN; IDIOPATHIC DISEASE; PARKINSON DISEASE; POPULATION; PREVALENCE; PRIORITY JOURNAL; PROTEIN ANALYSIS; TANDEM REPEAT;

ADULT; AGED; AGED, 80 AND OVER; ASIAN CONTINENTAL ANCESTRY GROUP; BASE SEQUENCE; FEMALE; HUMANS; MALE; MIDDLE AGED; MOLECULAR SEQUENCE DATA; NERVE TISSUE PROTEINS; NUCLEAR PROTEINS; PARKINSON DISEASE; REPETITIVE SEQUENCES, NUCLEIC ACID; REPRESSOR PROTEINS; TATA-BOX BINDING PROTEIN;

EID: 33745512490     PISSN: 03043940     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.neulet.2006.04.019     Document Type: Article

References (18)

1. Furtado S., Payami H., Lockhart P.J., Hanson M., Nutt J.G., Singleton A.A., Singleton A., Bower J., Utti R.J., Bird T.D., de la Fuente-Fernandez R., Tsuboi Y., Klimek M.L., Suchowersky O., Hardy J., Calne D.B., Wszolek Z.K., Farrer M., Gwinn-Hardy K., and Stoessl A.J. Profile of families with parkinsonism-predominant spinocerebellar ataxia type 2 (SCA2). Mov. Disord. 19 6 (2004) 622-629
2. Gacy M., Goellner G., Jurani N., Macura S., and McMurray C.T. Trinucleotide repeats that expand in human disease form hairpin structures in vitro. Cell 81 4 (1995) 533-540
3. Gwinn-Hardy K., Chen J.Y., Liu H.C., Liu T.Y., Boss M., Seltzer W., Adam A., Singleton A., Koroshetz W., Waters C., Hardy J., and Farrer M. Spinocerebellar ataxia type 2 with parkinsonism in ethnic Chinese. Neurology 55 6 (2000) 800-805
4. Gwinn-Hardy K., Singleton A., O'Suilleabhain P., Boss M., Nicholl D., Adam A., Hussey J., Critchley P., Hardy J., and Farrer M. Spinocerebellar ataxia type 3 phenotypically resembling parkinson disease in a black family. Arch. Neurol. 58 2 (2001) 296-299
5. Kock N., Muller B., Vieregge P., Pramstaller P.P., Marder K., Abbruzzese G., Martinelli P., Lang A.E., Jacobs H., Hagenah J., Harris J., Meija-Santana H., Fahn S., Hedrich K., Kann M., Gehlken U., Culjkovic B., Schwinger E., Wszolek Z.K., Zuhlke C., and Klein C. Role of SCA2 mutations in early- and late-onset dopa-responsive parkinsonism. Ann. Neurol. 52 2 (2002) 257-258
6. Lu C.-S., Chou Y.-H.W., Kuo P.-C., Chang H.-C., and Weng Y.-H. The parkinsonian phenotype of spinocerebellar ataxia type 2. Arch. Neurol. 61 1 (2004) 35-87
7. Maltecca F., Filla A., Castaldo I., Coppola G., Fragassi N.A., Carella M., Bruni A., Cocozza S., Casari G., Servadio A., and De Michele G. Intergenerational instability and marked anticipation in SCA-17. Neurology 61 (2003) 1441-1443
8. Payami H., Nutt J., Gancher S., Bird T., McNeal M.G., Seltzer W.K., Hussey J., Lockhart P., Gwinn-Hardy K., Singleton A.A., Singleton A.B., Hardy J., and Farrer M. SCA2 may present as levodopa-responsive parkinsonism. Mov. Disord. 18 4 (2003) 425-429
9. Schols L., Bauer P., Schmidt T., Schulte T., and Riess O. Autosomal dominant cerebellar ataxias: clinical features, genetics, and pathogenesis. Lancet Neurol. 3 5 (2004) 291-304
10. Shan D.-E., Liu R.-S., Sun C.-M., Lee S.-J., Liao K.-K., and Soong B.-W. Presence of spinocerebellar ataxia type 2 gene mutation in a patient with apparently sporadic Parkinson's disease: clinical implications. Mov. Disord. 19 11 (2004) 1357-1360
11. Sobczak K., and Krzyzosiak W.J. CAG repeats containing CAA interruptions form branched hairpin structures in spinocerebellar ataxia type 2 transcripts. J. Biol. Chem. 280 5 (2005) 3898-3910
12. Tan E.K. Autosomal dominant spinocerebellar ataxias: an Asian perspective. Can. J. Neurol. Sci. 30 4 (2003) 361-367
13. Tan E.K., and Ashizawa T. Genetic testing in spinocerebellar ataxias: defining a clinical role. Arch. Neurol. 58 2 (2001) 191-195
14. Tan E.K., Law H.Y., Zhao Y., Lim E., Chan L.L., Chang H.M., Ng I., and Wong M.C. Spinocerebellar ataxia in Singapore: predictive features of a positive DNA test?. Eur. Neurol. 44 3 (2000) 168-171
15. Wilder-Smith E., Tan E.K., Law H.Y., Zhao Y., Ng I., and Wong M.C. Spinocerebellar ataxia type 3 presenting as an L-DOPA responsive dystonia phenotype in a Chinese family. J. Neurol. Sci. 213 1-2 (2003) 25-28
16. Wilkins A., Brown J.M., and Barker R.A. SCA2 presenting as levodopa-responsive parkinsonism in a young patient from the United Kingdom: a case report. Mov. Disord. 19 5 (2004) 593-595
17. Wu Y.R., Fung H.C., Lee-Chen G.J., Gwinn-Hardy K., Ro L.S., Chen S.T., Hsieh-Li H.M., Lin H.Y., Lin C.Y., Li S.N., and Chen C.M. Analysis of polyglutamine-coding repeats in the TATA-binding protein in different neurodegenerative diseases. J. Neural. Trans. 112 4 (2005) 539-546
18. Zhao Y., Tan E.K., Law H.Y., Yoon C.S., Wong M.C., and Ng I. Prevalence and ethnic differences of autosomal-dominant cerebellar ataxia in Singapore. Clin. Genet. 62 6 (2002) 478-481