Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
8272591 | Journal of the Neurological Sciences | 2018 | 20 Pages |
Abstract
In a sample of patients in whom HD and HDL2 had been excluded, a single expansion was identified in the ATXN2 gene, confirming a diagnosis of Spinocerebellar ataxia 2. The results indicate that common repeat expansion disorders do not contribute significantly to the HD-like phenotype in black South African patients. Importantly, allele sizing reveals unique distributions of normal repeat lengths across the associated loci in the African population studied.
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Authors
Fiona K. Baine, Nabeelah Peerbhai, Amanda Krause,