Article
Senataxin mutations and amyotrophic lateral sclerosis.
Amyotrophic lateral sclerosis : official publication of the World Federation of Neurology Research Group on Motor Neuron Diseases - 1 May 2011
Hirano Michio, Quinzii Catarina M, Mitsumoto Hiroshi, Hays Arthur P, Roberts J Kirk, Richard Patricia, Rowland Lewis P
Abstract excerpt
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...
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