Skip to content
Home
About Us
Resources
Profiles Metrics
Authors Directory
Institutions Directory
Top Authors
Top Institutions
Top Sponsors
AI Digest
Contact Us
Menu
Home
About Us
Resources
Profiles Metrics
Authors Directory
Institutions Directory
Top Authors
Top Institutions
Top Sponsors
AI Digest
Contact Us
Home
About Us
Resources
Profiles Metrics
Authors Directory
Institutions Directory
Top Authors
Top Institutions
Top Sponsors
AI Digest
Contact Us
Menu
Home
About Us
Resources
Profiles Metrics
Authors Directory
Institutions Directory
Top Authors
Top Institutions
Top Sponsors
AI Digest
Contact Us
Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
medicine
The hereditary adult-onset ataxias in South Africa
Journal of the Neurological Sciences, Volume 216, No. 1, Year 2003
Notification
URL copied to clipboard!
Description
There is little data on the spectrum and frequencies of the autosomal dominant spinocerebellar ataxias (SCAs) from the African continent. We undertook a large prospective population-based study over a 10-year period in South Africa (SA). Affected persons were clinically evaluated, and the molecular analysis for the SCA1, 2, 3, 6 and 7 expansions was undertaken. Of the 54 SA families with dominant ataxia, SCA1 accounted for 40.7%, SCA2 for 13%, SCA3 for 3.7%, SCA6 for 1.9%, SCA7 for 22.2% and 18.5% were negative for all these mutations. The frequency of the SCA1 and SCA7 expansions in SA represents one of the highest frequencies for these expansions reported in any country. In this study, the SCA7 mutations have only been found in SA families of Black ethnic origin. © 2003 Published by Elsevier B.V.
Authors & Co-Authors
Bryer, Alan
South Africa, Observatory
Groote Schuur Hospital
Krause, Amanda
South Africa, Johannesburg
School of Pathology
Bill, Pierre Louise Alfred
South Africa, Durban
University of Kwazulu-natal
Davids, Virginia
South Africa, Cape Town
University of Cape Town
Bryant, Daphne
South Africa, Cape Town
University of Cape Town
Butler, James Thomas
South Africa, Tygerberg
Tygerberg Hospital
Heckmann, Jeannine M.
South Africa, Observatory
Groote Schuur Hospital
Ramesar, Rajkumar S.
South Africa, Cape Town
University of Cape Town
Greenberg, Jacquie L.
South Africa, Cape Town
University of Cape Town
Statistics
Citations: 86
Authors: 9
Affiliations: 5
Identifiers
Doi:
10.1016/S0022-510X(03)00209-0
ISSN:
0022510X
Study Design
Cross Sectional Study
Cohort Study
Study Locations
South Africa