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Sensorimotor neuronopathy in ataxia with oculomotor apraxia type 2.

Abstract : Two siblings with ataxia with oculomotor apraxia type 2 (AOA2) exhibited electrophysiological findings suggestive of a sensorimotor neuronopathy, and primary ovarian failure was detected in one of them. Genetic analysis disclosed a novel, homozygous frameshift mutation in the senataxin gene, 2755_2756delGT, responsible for a premature stop codon at position 2760. It is suggested that a neuronopathy might cause the neuromuscular disturbance in AOA2, and that ovarian failure should be looked for in female patients with the disease.
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https://www.hal.inserm.fr/inserm-00420805
Contributor : Maité Peney <>
Submitted on : Tuesday, September 29, 2009 - 4:39:30 PM
Last modification on : Thursday, June 4, 2020 - 12:46:07 PM

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José Gazulla, Isabel Benavente, Isabel Pérez López-Fraile, Pedro Modrego, Michel Koenig. Sensorimotor neuronopathy in ataxia with oculomotor apraxia type 2.. Muscle & nerve. Supplement., 2009, 40 (3), pp.481-5. ⟨10.1002/mus.21328⟩. ⟨inserm-00420805⟩

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