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Case Reports
. 2011 May;12(3):223-7.
doi: 10.3109/17482968.2010.545952. Epub 2010 Dec 29.

Senataxin mutations and amyotrophic lateral sclerosis

Michio Hirano  1 , Catarina M Quinzii, Hiroshi Mitsumoto, Arthur P Hays, J Kirk Roberts, Patricia Richard, Lewis P Rowland
Affiliations
Case Reports

Senataxin mutations and amyotrophic lateral sclerosis

Michio Hirano et al. Amyotroph Lateral Scler. 2011 May.

Abstract

We studied three patients with mutations in the senataxin gene (SETX). One had juvenile onset of ALS. The second case resembled hereditary motor neuropathy. The third patient had an overlap syndrome of ataxia-tremor and motor neuron disease, phenotypes previously associated with SETX mutations. Our patients were all apparently sporadic, with no other affected relative. Two relatives of patient no. 2 carried the SETX c.4660T > G transversion but did not manifest motor neuron disease, abnormal eye movements, ataxia, or tremor suggesting that genetic or environmental modifiers may influence expression of this SETX polymorphism. Relatives of patients 1 and 3 were not available for examination or SETX mutation screening. Mutations causing ALS4 may be more frequent and heterogeneous than expected. Screening for SETX mutations should be considered in patients with apparently sporadic juvenile-onset ALS, hereditary motor neuropathy, and overlap syndromes with ataxia and motor neuron disease.

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Conflict of interest statement

Declaration of interest: The authors report no conflicts of interest. The authors alone are responsible for the content and writing of the paper.

Figures

Figure 1.
Figure 1.
Sites of senataxin protein mutations (highlighted in bold text) in patients 1 – 3 with phylogenetic homologies.
Figure 2.
Figure 2.
Photograph demonstrating hammer toes and contractures of Achilles tendons in patient 2.
See this image and copyright information in PMC

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