Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
1916125 | Journal of the Neurological Sciences | 2007 | 6 Pages |
Abstract
We characterized a novel homozygous missense mutation of APTX in a 34Â year-old female patient born from consanguineous parents. The mutation, a Val230Gly caused by a c.689 T>G substitution, involved the histidine-triad (HIT) domain of the protein, affected a phylogenetically conserved amino acid and was absent in the control population. We described the clinical and neurophysiological features, the findings at structural and functional brain imaging, and the pathological picture of the sural nerve biopsy. The report emphasized the genetical and phenotypical heterogeneity of AOA1 by demonstrating atypical features such as absence of oculomotor apraxia and signs of pyramidal involvement. Expression studies by Western blotting on fibroblasts demonstrated that the homozygous Val230Gly mutation was associated with decreased levels of APTX indicating a loss-of-function mechanism.
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Authors
Moreno Ferrarini, Giovanna Squintani, Tiziana Cavallaro, Sergio Ferrari, Nicolo' Rizzuto, Gian Maria Fabrizi,