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Neurodegenerative Disorders

Publications

Research Outputs

Conference Attendance:

SASHG congress, Stellenbosch, April 2009

J Scholefield, LJ Greenberg, MS Weinberg, P Arbuthnot, A Abdelgany, MJA Wood.  Knockdown of the disease-causing gene in South African patients with SCA7 using allele-specific RNAi (oral presentation)

 

 F Baine, J Scholefield, A Bryer, MJA Wood, J Greenberg.  Identification of a SNP for allele-specific silencing of the disease-causing gene in SCA1 patients in South Africa (poster presentation)

 

British Society for Human Genetics (BSHG) Annual conference, University of Warwick UK,  September 2010:

D Smith , J Scholefield, MS Weinberg, MJA Wood, LJ Greenberg.  A method for measuring allele-specific knock-down in SCA7 patient lymphoblasts (poster presentation)

 

Joint Conference of the South African and African Societies of Human Genetics 2011 and the Young Researchers Forum, Cape Town, 6-9 March 2011:  

F Baine, J Scholefield, A Bryer, M Wood, J Greenberg     Allele-specific silencing of the disease-causing gene in SCA1 patients in South Africa using a SNP linked to the trinucleotide expansion. (Awarded first prize for an oral presentation)

 

Watson, LM, Greenberg, LJ,  Weinberg, MS, Wood, MJA and Scholefield, J. Investigation of transcriptional dysregulation in an iPSC-derived neuronal model of Spinocerebellar Ataxia 7 (poster presentation)

 

D Berkowitz, J Scholefield, M Weinberg, M Wood, J Greenberg  A method for measuring allele-specific RNAi knock-down in SCA7 patient lymphoblasts (poster presentation)

 

F Baine, J Scholefield, A Bryer, M Wood, J Greenberg  Identification of a suitable SNP for allele-specific silencing of the disease-causing gene in SCA1 patients in South Africa (poster presentation)

 

F Baine, M Ketelaar, M Schoeman, A Semaka, M Hayden, J Greenberg   Haplotypes associated with Huntington Disease in SA populations (poster presentation)

 

South African Society for Biochemistry and Molecular Biology conference, Drakensberg, January 2012:

Janine Scholefield, Lauren Watson, Danielle Smith, Jacquie Greenberg, Matthew Wood. RNAi-based silencing therapy restores a polyQ disease phenotype in patient cells (oral presentation)

 

National Ataxia Foundation’s Ataxia Investigators Meeting, Texas, March 2012:  

Janine Scholefield, Lauren Watson, Danielle Smith, Jacquie Greenberg, Matthew Wood Therapeutic gene silencing for SCA7 (poster presentation)  

 

Danielle Smith, Janine Scholefield, Lauren Watson, Fiona Baine, Alan Bryer, Marco Weinberg, Matthew Wood, Jacquie Greenberg. The polyglutamine SCAs in South Africa:  Past Perspectives and Future Prospects (poster presentation)

 

Neurological Association of South Africa (NASA) Congress, Stellenbosch, March 2013:

Jacquie Greenberg, Susan Kidson.  Stem Cells:  What neurologists should know (invited oral presentation)

Lauren M Watson, Janine Scholefield, Danielle C Smith, L Jacquie Greenberg, Matthew JA Wood. An induced pluripotent stem cell-derived neuronal model of Spinocerebellar Ataxia type 7(awarded NASA/Novartis Award for Best Neuroscience Oral Presentation)

 

Danielle C Smith, Lauren M Watson, Fiona K Baine, Alina Esterhuizen, Janine Scholefield, Alan Bryer, Matthew JA Wood, L Jacquie Greenberg.  The polyglutamine SCAs in South Africa: a 25-year journey (poster presentation)

 

F Baine, Chris Kay, Jennifer Collins, Amanda Krause, L Jacquie Greenberg, Michael R Hayden. Distinct HTT haplotypes are associated with Huntington disease in the South African population (poster presentation)

 

Biennial Congress of the Southern African Society for Human Genetics (SASHG) and the Young Researcher’s Forum (YRF), Johannesburg, October 2013:

LM Watson, J Scholefield, R Ballo, SA Cowley, DC Smith, MS Weinberg, SH Kidson, LJ Greenberg, MJA Wood. Using induced pluripotent stem cells to model neuronal degeneration in Spinocerebellar Ataxia type 7 (oral presentation, poster presentation at Young Researchers’ Forum)

 

F Baine, Chris Kay, Marlies Ketelaar,  Jennifer Collins, Amanda Krause, L Jacquie Greenberg, Michael R Hayden. Targetable disease-associated HTT haplotypes in the South African population (poster presentation).

Danielle C Smith, Lauren M Watson, Robea Ballo, Janine Scholefield, Sally Cowley, Matthew Wood,  Susan Kidson, Jacquie Greenberg.  A stem cell-derived model of retinal degeneration associated with Spinocerebellar ataxia type 7 (oral presentation at YRF, poster presentation as SASHG).

 

Danielle C Smith, Ansie Wichers, Alina Esterhuizen, Jacquie Greenberg. Triplet-Primed PCR:  An Introduction into the South African Diagnostic Arena(poster presentation).

 

XVIth International Symposium on Retinal Degeneration, Pacific Grove, USA, July 2014:

Danielle C Smith, Lauren M Watson, Robea Ballo, Janine Scholefield, Sally Cowley, Matthew Wood,  Susan Kidson, Jacquie Greenberg.  A stem cell-derived model of retinal degeneration associated with Spinocerebellar ataxia type 7 (poster presentation).

 

International Conference on Tissue Engineering and Regenerative Medicine (ICTERM), Pretoria, South Africa, August 2014:

Watson LM, Smith DC, Ballo R, Scholefield J, Tyers L, Cowley SA, Wood MJA, Kidson SH, Greenberg LJ.  Modeling neural and retinal degeneration in Spinocerebellar Ataxia type 7, using induced pluripotent stem cells (oral presentation).

 

International Ataxia Research Conference, Windsor, United Kingdom, April 2015:

Smith DC, Watson L, Esterhuizen A, Mwaba M, Mukomena P, Atadzhanov M, Bryer A, Greenberg J. Bridging the gap – Is there need for "Ataxia Africa"?. (poster presentation)

 

Biennial Congress of the Southern African Society for Human Genetics (SASHG) and the Young Researcher’s Forum (YRF), Pretoria, August 2015:

Danielle C Smith, Lauren M Watson, Alina Esterhuizen, Mwila Mwaba, Masharip Atadzhanov, Alan Bryer, L. Jacquie Greenberg.  Beyond our borders:  evidence for a Spinocerebellar ataxia type 7 founder effect in southern Africa (oral presentation)

 

J Greenberg, DC Smith, RJ Burman, R Ballo, SH Kidson .  New Technologies, new challenges:  guidelines for the ethical oversight of informed consent for the use of induced pluripotent stem cells for future research proposes (oral presentation)

 

Publications:

Huntington Disease

Baine FK, Kay C, Ketelaar ME, Collins JA, Semaka A, Doty CN, Krause A, Greenberg LJ and Hayden MR (2013)Targetable disease-associated HTT haplotypes in the South African population.  Eur J Hum Genet 21(10):1120-1127.

 

Futter MJ, Heckmann JM,  Greenberg LJ (2009).  Predictive testing for Huntington disease in a developing country.  Clin Genet. 75(1):92-7.

 

Futter MJ, Heckmann JM,  Greenberg LJ (2009).  Predictive testing for Huntington disease in a developing country. Futter MJ, Heckmann JM, Greenberg LJ.  Clin Genet. 75(1):92-7.

 

Greenberg J, Bardien S,  Carr J (2008). Huntington’s disease-like 2 in South Africa.    S Afr Med J (98) 3 : 166.

Krause A, Greenberg J (2008).  Genetic testing For Huntington’s disease In South Africa.  S Afr Med J (98) 3 : 193-194.

 

Bardien, S Abrahams F, Soodyall H, Van Der Merwe L, Greenberg J, Brink T, Carr J. (2007).  A South African mixed ancestry family with Huntington Disease-Like 2: clinical and genetic features.  Mov Disord.  22,  (14): 2083–2089.

 

Scholefield J,  Greenberg J (2007).   A common SNP haplotype provides molecular proof of a founder effect of Huntington disease linking two South African populations. Eur J Hum Genet. 15 : 590-595.

 

Lyons Lewis J (2006).  The identification of the huntington disease-like 2 gene in the western Cape. Honours project write-up UCT.

 

Scholefield J (2005).   Detailed investigation of the unstable (CAG)n repeat and the immediate surrounding region of the it15 gene in some South African families with Huntington disease. MSc thesis, University of Cape Town.

Heckmann J, Bryer A, Greenberg J  (2001).   When is it not Huntington Disease?  Scientific Letter : February  South Africa. S Afr Med J 91 : 132-133.

 

September A (1999).   Detailed investigation of the trinucleotide repeats within the Huntington disease gene in southern Africa.  MSc thesis, University of Cape Town.

 

Greenberg J, Beatty S, Soltau H,  Bryer A (1996).  A predictive testing service for Huntington Disease (HD) and late onset Spinocerebellar Ataxia (SCA1) in Cape Town. CME Review 14: 1364-1367.

 

Squitieri F, Andrew SE, Goldberg YP, Kremer B, Spence N, Zeisler J, Nichol K, Theilmann J, Greenberg J, Goto J, Kanazawa I, Vesa J, Peltonen L, Almqvist E, Anvret M, Telenius H, Lin B, Napolitano G, Morgan K, Hayden MR (1994).   DNA haplotype analysis of Huntington disease reveals clues to the origins and mechanisms of CAG expansion and reasons for geographic variations of prevalence.   Hum Mol Genet 3 (12): 2103-2114.

 

Telenius H, Kremer HP , J Theilmann, SE Andrew, E Almqvist, M Anvert, C Greenberg, J Greenberg, G Lucotte, FS Squitieri, E Starr, YP Goldberg and MR Hayden (1993). Molecular Analysis of Juvenile Huntington Disease: the major influence (CAG)n on repeat length is the sex of the  affected parent.  Hum Mol Genet 2:  1535-1540.

 

Greenberg J  (1993).  Huntington Disease: Prenatal Screening for late onset disease. J Med  Ethics19: 121-122.

 

Greenberg LJ,  Martell RW, Theilman J, Hayden MR, Joubert J (1991).  Genetic linkage between Huntington Disease and the D4S10 locus in South African families: Further evidence against non-allelic heterogeneity. HumGenet 81: 701-708.

 

Greenberg LJHL (1990). A molecular approach to Huntington disease in southern Africa.  PhD thesis, University of Cape Town.

 

Greenberg LJ  (1989).  A molecular service for Huntington Disease in Southern Africa.  S Afr MedJ 76: 135-136.

Hayden MR, Beighton P (1982).   Genetic aspects of Huntington’s chorea: results of a national survey. Am J Med Genet 11(2):135-41.

 

Hayden MR, MacGregor JM, Saffer DS, Beighton PH (1982). The high frequency of juvenile Huntington’s chorea in South Africa. J Med Genet 19: 94-97

 

Hayden MR, Berkowicz AL, Beighton PH, Yiptong C (1981). Huntington’s chorea on the island of Mauritius. S Afr Med J 60: 1001-1002

 

Hayden MR, MacGregor JM, Beighton PH (1980).  The prevalence of Huntington’s chorea in South Africa. SAfr Med J 58: 193-196.

 

Hayden MR, Hopkins HC, Macrae M, Beighton PH (1980). The origin of Huntington’s chorea in the Afrikaner population of South Africa. S Afr Med J 58: 197-200

 

Hayden MR (1979) Huntington’s Chorea in Southern Africa. PhD thesis, University of Cape Town.

 

Hayden MR, Beighton P (1977).   Huntington’s chorea in the Cape coloured community of South Africa. S AfrMed J 19; 52(22):886-888.

 

Spinocerebellar ataxias

Greenberg LJ, Smith DC, Burman RJ, Ballo R, Kidson SH (2015). Towards guidelines for informed consent for prospective stem cell research. South African Journal of Bioethics and Law (8, Suppl 1) 46-48.

 

Smith DC, Atadzhanov M, Mwaba M, Greenberg LJ (2015).  Evidence for a common founder effect amongst South African and Zambian individuals with Spinocerebellar ataxia type 7. Journal of the Neurological Sciences (354) 75-78.

 

Smith DC, Esterhuizen A, Greenberg J (2013). Caution regarding the interpretation of homoallelism in polyglutamine multiplex assays: a recommendation for confirmatory testing of homozygous alleles. J Mol Diagn 15(5): 706-709.

 

Smith DC, Watson LM, Greenberg LJ, Wood MJA, Scholefield J (2013).  RNA therapy for polyglutamine neurodegenerative diseases. Encyclopedia of Life Sciences.

 

Greenberg LJ, Smith DC, Pope A (2013).   Stem cells on South African shores: proposed guidelines for comprehensive informed consent. S Afr Med J (103)1:6.

 

Ballo R, Greenberg LJ, Kidson S (2013).   A New Class of Stem Cells in South Africa: Introducing Induced Pluripotent Stem cells (iPS cells).  S Afr Med J (103)1:16-17.

 

Watson L, Scholefield J,  Greenberg J,  Wood M (2012). Polyglutamine disease: from pathogenesis to therapy. S Afr Med J Centenary Edition. S Afr Med J (102) 6: 481-484.

 

Watson LM, Wood MJ (2012). RNA therapy for polyglutamine neurodegenerative diseases. Expert Rev Mol Med. Jan 31;14:e3.

 

Smith DC, Bryer A, Watson LM,  Greenberg LJ (2012).    The inherited polyglutamine Spinocerebellar ataxias in South Africa.  S Afr Med J.  . (102) 8: 683-686.

 

Scholefield J, Wood MJ (2010). Therapeutic gene silencing strategies for polyglutamine disorders. Trends Genet. 26(1):29-38.

 

Scholefield J, Greenberg LJ, Weinberg MS, Arbuthnot PB, Abdelgany A, Wood MJA (2009). Design of RNAi Hairpins for Mutation-Specific Silencing of Ataxin-7 and Correction of a SCA7 Phenotype. PLoS ONE. 4(9): e7232.

 

Greenberg J, Solomon G, Vorster A, Heckmann J, Bryer A (2006). Origin of the SCA7 gene mutation in South Africa: implications for molecular diagnostics. Clin Genet 70(5):415-417.

 

Bryer A, Krause A, Bill P, Davids V, Bryant D, Butler J, Heckmann J, Ramesar R, Greenberg J (2003). The hereditary adult-onset ataxias in South Africa. J Neurol Sci 216(1):47-54.

 

Ramesar RS, Bardien S, Beighton P, Bryer A (1997). Expanded CAG repeats in spinocerebellar ataxia (SCA1) segregate with distinct haplotypes in South African families. Hum Genet 100(1):131-137.

 

Greenberg J, Beatty S, Soltau H, Bryer A (1996). A predictive testing service for Huntington Disease (HD) and late onset Spinocerebellar Ataxia (SCA1) in Cape Town.   CME Review : 14: 1364-1367.

 

Ranum LP, Chung MY, Banfi S, Bryer A, Schut LJ, Ramesar R, Duvick LA, McCall A, Subramony SH, Goldfarb L, et al (1994). Molecular and clinical correlations in spinocerebellar ataxia type I: evidence for familial effects on the age at onset.  Am J Hum Genet. 55(2):244-52.

 

Bryer A, Martell RW, du Toit ED, Beighton P (1992). Adult onset spinocerebellar ataxia linked to HLA in a South African kindred of mixed ancestry. Tissue Antigens. 40(3):111-5.