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Case Reports
. 2007 Apr;13(3):139-42.
doi: 10.1016/j.parkreldis.2006.08.010. Epub 2006 Oct 27.

Aprataxin (APTX) gene mutations resembling multiple system atrophy

Yasuhiko Baba  1 , Ryan J Uitti, Kevin B Boylan, Yoshinari Uehara, Tatsuo Yamada, Matthew J Farrer, Elizabeth Couchon, Sat Dev Batish, Zbigniew K Wszolek
Affiliations
Case Reports

Aprataxin (APTX) gene mutations resembling multiple system atrophy

Yasuhiko Baba et al. Parkinsonism Relat Disord. 2007 Apr.

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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