Inherited polyglutamine spinocerebellar ataxias in South Africa

South African Medical Journal

Volumn 102, Issue 8, 2012, Pages 683-686

  Smith, D C ^a   Bryer, A ^b   Watson, L M ^a   Greenberg, L J ^a  

^a UNIVERSITY OF CAPE TOWN   (South Africa)

^b UNIVERSITY OF CAPE TOWN   (South Africa)

Author keywords

[No Author keywords available]

Indexed keywords

ATAXIN 1; ATAXIN 2; ATAXIN 3; ATAXIN 6; ATAXIN 7; NUCLEIC ACID BINDING PROTEIN; POLYGLUTAMINE; UNCLASSIFIED DRUG;

ARTICLE; CAG REPEAT; CLINICAL FEATURE; ETHNICITY; GENETIC SCREENING; GEOGRAPHIC DISTRIBUTION; HEREDITARY ATAXIA; HUMAN; INCIDENCE; MULTIPLEX POLYMERASE CHAIN REACTION; POLYGLUTAMINE SPINOCEREBELLAR DEGENERATION; SOUTH AFRICA; SPINOCEREBELLAR DEGENERATION;

FEMALE; HUMANS; INCIDENCE; MALE; MOLECULAR DIAGNOSTIC TECHNIQUES; PEPTIDES; SOUTH AFRICA; SPINOCEREBELLAR ATAXIAS; TRINUCLEOTIDE REPEATS;

EID: 84864407367     PISSN: 02569574     EISSN: None     Source Type: Journal    
DOI: 10.7196/SAMJ.5521     Document Type: Article

References (17)

1. Durr A. Autosomal dominant cerebellar ataxias: polyglutamine expansions and beyond. Lancet Neurol 2010;9:885-894. [http://dx.doi.org/10.1016/S1474-4422(10)70183-6]
2. Orr HT, Zoghbi HY. Trinucleotide repeat disorders. Annu Rev Neurosci 2007;30:575-621. [http://dx.doi.org/10.1146/annurev.neuro.29.051605.113042]
3. Bryer A, Krause A, Bill P, et al. The hereditary adult-onset ataxias in South Africa. J Neurol Sci 2003;216:47-54. [http://dx.doi.org/10.1016/S0022-510X(03)00209-0]
4. Dorschner MO, Barden D, Stephens K. Diagnosis of five spinocerebellar ataxia disorders by multiplex amplification and capillary electrophoresis. J Mol Diagn 2002;4:108-113. [http://dx.doi.org/10.1016/S1525-1578(10)60689-7]
5. Fujigasaki H, Martin JJ, De Deyn PP, et al. CAG repeat expansion in the TATA box binding protein gene causes autosomal dominant cerebellar ataxia. Brain 2001;124:1939-1947. [http://dx.doi.org/10.1093/brain/124.10.1939]
6. Statistics South Africa. Statistical release P0302 mid-year population estimates, 2011. http://www.statssa.gov.za/publications/P0302/P03022011.pdf (accessed 1 December 2011).
7. Schöls L, Bauer P, Schmidt T, et al. Autosomal dominant cerebellar ataxias: clinical features, genetics, and pathogenesis. Lancet Neurol 2004;3:291-304. [http://dx.doi.org/10.1016/S1474-4422(04)00737-9]
8. Sequeiros J, Martindale J, Seneca S. EMQN Best Practice guidelines for molecular genetic testing of SCAs. Eur J Hum Genet 2010;18:1188-1195. [http://dx.doi.org/10.1038/ejhg.2010.8]
9. Jonasson J, Juvonen V, Sistonen P, et al. Evidence for a common Spinocerebellar ataxia type 7 (SCA7) founder mutation in Scandinavia. Eur J Hum Genet 2000;8:918-922. [http://dx.doi.org/10.1038/sj.ejhg.5200557]
10. Greenberg J, Solomon G, Vorster A, et al. Origin of the SCA7 gene mutation in South Africa: implications for molecular diagnostics. Clin Genet 2006;70:415-417. [http://dx.doi.org/10.1111/j.1399-0004.2006.00680.x]
11. Ramesar RS, Bardien S, Beighton P, et al. Expanded CAG repeats in spinocerebellar ataxia (SCA1) segregate with distinct haplotypes in South African families. Hum Genet 1997;100:131-137. [http://dx.doi.org/10.1007/s004390050478]
12. Baine FK. Identification of a suitable SNP for allele-specific silencing of the disease-causing gene in SCA1 patients in South Africa. MSc dissertation, University of Cape Town, 2010.
13. Scholefield J, Greenberg LJ, Weinberg MS, et al. Design of RNAi hairpins for mutation-specific silencing of ataxin-7 and correction of a SCA7 phenotype. PLoS One 2009;4:e7232. [http://dx.doi.org/10.1371/journal.pone.0007232]
14. Takahashi M, Watanabe S, Murata M, et al. Tailor-made RNAi knockdown against triplet repeat disease-causing alleles. Proc Natl Acad Sci USA 2010;107:21731-21736. [http://dx.doi.org/10.1073/pnas.1012153107]
15. Basu P, Chattopadhyay B, Gangopadhaya PK, et al. Analysis of CAG repeats in SCA1, SCA2, SCA3, SCA6, SCA7 and DRPLA loci in spinocerebellar ataxia patients and distribution of CAG repeats at the SCA1, SCA2 and SCA6 loci in nine ethnic populations of eastern India. Hum Genet 2000;106:597-604. [http://dx.doi.org/10.1007/s004390050031]
16. Traoré M, Coulibaly T, Meilleur KG, et al. Clinical and genetic analysis of spinocerebellar ataxia in Mali. Euro J Neurol 2011;18:1269-1271. [http://dx.doi.org/10.1111/j.1468-1331.2011.03376.x]
17. Takano H, Cancel G, Ikeuchi T, et al. Close associations between prevalences of dominantly inherited spinocerebellar ataxias with CAG-repeat expansions and frequencies of large normal CAG alleles in Japanese and Caucasian populations. Am J Hum Genet 1998;63:1060-1066. [http://dx.doi.org/10.1086/302067]