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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
3
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pubmed:dateCreated |
2000-4-11
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pubmed:abstractText |
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.
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Mar
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pubmed:issn |
0001-6314
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pubmed:author |
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pubmed:issnType |
Print
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pubmed:volume |
101
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
177-82
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pubmed:dateRevised |
2006-8-16
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pubmed:meshHeading |
pubmed-meshheading:10705940-Adult,
pubmed-meshheading:10705940-African Continental Ancestry Group,
pubmed-meshheading:10705940-Aged,
pubmed-meshheading:10705940-Atrophy,
pubmed-meshheading:10705940-Brain Stem,
pubmed-meshheading:10705940-Cerebellum,
pubmed-meshheading:10705940-Child,
pubmed-meshheading:10705940-DNA Mutational Analysis,
pubmed-meshheading:10705940-DNA Primers,
pubmed-meshheading:10705940-Female,
pubmed-meshheading:10705940-Fundus Oculi,
pubmed-meshheading:10705940-Genomic Imprinting,
pubmed-meshheading:10705940-Humans,
pubmed-meshheading:10705940-Macular Degeneration,
pubmed-meshheading:10705940-Male,
pubmed-meshheading:10705940-Pedigree,
pubmed-meshheading:10705940-Point Mutation,
pubmed-meshheading:10705940-Polymerase Chain Reaction,
pubmed-meshheading:10705940-South Africa,
pubmed-meshheading:10705940-Spinocerebellar Ataxias,
pubmed-meshheading:10705940-Tomography, X-Ray Computed,
pubmed-meshheading:10705940-Trinucleotide Repeat Expansion
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pubmed:year |
2000
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pubmed:articleTitle |
The clinical and genetic characteristics of spinocerebellar ataxia type 7 (SCA 7) in three Black South African families.
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pubmed:affiliation |
Department of Medicine, Chris Hani Baragwanath Hospital and the University of the Witwatersrand, Johannesburg, South Africa.
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pubmed:publicationType |
Journal Article
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