Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
1922524 | Parkinsonism & Related Disorders | 2007 | 4 Pages |
Abstract
Mutations of the aprataxin (APTX) gene cause early-onset ataxia with ocular motor apraxia and hypoalbuminemia (EAOH), also called ataxia with oculomotor apraxia type 1. Recent studies showed clinical heterogeneity in patients with EAOH. We describe 2 patients whose clinical features resembled those of multiple system atrophy of the cerebellar subtype (MSA-C) but without ocular motor apraxia and hypoalbuminemia. Each had a different nucleotide transition in the APTX gene (725G→A and 457A→G). These variants on the APTX gene exhibit phenotypic variability.
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Authors
Yasuhiko Baba, Ryan J. Uitti, Kevin B. Boylan, Yoshinari Uehara, Tatsuo Yamada, Matthew J. Farrer, Elizabeth Couchon, Sat Dev Batish, Zbigniew K. Wszolek,