Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
8681685 | Clinical Neurology and Neurosurgery | 2018 | 12 Pages |
Abstract
Machado-Joseph disease (MJD), or spinocerebellar ataxia type 3, is characterized by remarkable clinical heterogeneity. We present a MJD family in which variable phenotypes were noted in affected members, including one presenting predominantly with spastic paraparesis. A review of the literature revealed that MJD with the initial presentation of spastic paraparesis is more frequently observed in cases of eastern Asian origin who carry a greater CAG expansions in the ATXN3 gene. A greatly expanded allele in ATXN3 combined with an eastern Asian genetic background is associated with a phenotype of spastic paraparesis in MJD.
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Neurology
Authors
Hui-Chen Lin, Yung-Yee Chang, Kuo-Hsuan Chang, Ying-Fa Chen, Min-Yu Lan,