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The clinical and genetic characteristics of spinocerebellar ataxia type 7 (SCA 7) in three Black South African families.

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Title: The clinical and genetic characteristics of spinocerebellar ataxia type 7 (SCA 7) in three Black South African families.
Authors: Modi, G., Modi, M., Martinus, I., Rodda, J., Saffer, D.
Source: Acta Neurologica Scandinavica. Mar2000, Vol. 101 Issue 3, p177-182. 6p. 3 Black and White Photographs, 1 Diagram.
Subjects: Friedreich's ataxia, Families, Genetics
Geographic Terms: South Africa
Abstract: Objectives – Spinocerebellar ataxia type 7 is a rare autosomal dominant neurodegenerative disorder characterized by progressive cerebellar and retinal degeneration, described in various population groups in the literature. This is the first description from South Africa. The objective was to document the clinical and genetic characteristics of our patients and to determine concordance with other described cases. Patients and Methods – The index cases were identified clinically on the basis of the typical described features of progressive ataxia with visual failure due to progressive cerebellar and retinal/macular degeneration. Associated neurological disturbances were documented. Where possible, and available, family members were assessed and pedigrees were delineated. Molecular tests for SCA expansions were determined in the index cases. Results – Three pedigrees of SCA 7 were identified. The patients were all Black South Africans. The genetic and clinical characteristics are typical for SCA 7. Conclusion – SCA 7 is a rare distinct neurodegenerative disorder characterized by trinucleotide expansion. [ABSTRACT FROM AUTHOR]
Copyright of Acta Neurologica Scandinavica is the property of Wiley-Blackwell and its content may not be copied or emailed to multiple sites without the copyright holder's express written permission. Additionally, content may not be used with any artificial intelligence tools or machine learning technologies. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)
Database: Psychology and Behavioral Sciences Collection
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  Data: The clinical and genetic characteristics of spinocerebellar ataxia type 7 (SCA 7) in three Black South African families.
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  Data: <searchLink fieldCode="AR" term="%22Modi%2C+G%2E%22">Modi, G.</searchLink><br /><searchLink fieldCode="AR" term="%22Modi%2C+M%2E%22">Modi, M.</searchLink><br /><searchLink fieldCode="AR" term="%22Martinus%2C+I%2E%22">Martinus, I.</searchLink><br /><searchLink fieldCode="AR" term="%22Rodda%2C+J%2E%22">Rodda, J.</searchLink><br /><searchLink fieldCode="AR" term="%22Saffer%2C+D%2E%22">Saffer, D.</searchLink>
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  Data: <searchLink fieldCode="JN" term="%22Acta+Neurologica+Scandinavica%22">Acta Neurologica Scandinavica</searchLink>. Mar2000, Vol. 101 Issue 3, p177-182. 6p. 3 Black and White Photographs, 1 Diagram.
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  Data: <searchLink fieldCode="DE" term="%22Friedreich's+ataxia%22">Friedreich's ataxia</searchLink><br /><searchLink fieldCode="DE" term="%22Families%22">Families</searchLink><br /><searchLink fieldCode="DE" term="%22Genetics%22">Genetics</searchLink>
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  Data: <searchLink fieldCode="DE" term="%22South+Africa%22">South Africa</searchLink>
– Name: Abstract
  Label: Abstract
  Group: Ab
  Data: Objectives – Spinocerebellar ataxia type 7 is a rare autosomal dominant neurodegenerative disorder characterized by progressive cerebellar and retinal degeneration, described in various population groups in the literature. This is the first description from South Africa. The objective was to document the clinical and genetic characteristics of our patients and to determine concordance with other described cases. Patients and Methods – The index cases were identified clinically on the basis of the typical described features of progressive ataxia with visual failure due to progressive cerebellar and retinal/macular degeneration. Associated neurological disturbances were documented. Where possible, and available, family members were assessed and pedigrees were delineated. Molecular tests for SCA expansions were determined in the index cases. Results – Three pedigrees of SCA 7 were identified. The patients were all Black South Africans. The genetic and clinical characteristics are typical for SCA 7. Conclusion – SCA 7 is a rare distinct neurodegenerative disorder characterized by trinucleotide expansion. [ABSTRACT FROM AUTHOR]
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  Data: <i>Copyright of Acta Neurologica Scandinavica is the property of Wiley-Blackwell and its content may not be copied or emailed to multiple sites without the copyright holder's express written permission. Additionally, content may not be used with any artificial intelligence tools or machine learning technologies. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract.</i> (Copyright applies to all Abstracts.)
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