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Sensorimotor neuronopathy in ataxia with oculomotor apraxia type 2
José Gazulla1, Isabel Benavente, Isabel Pérez López-Fraile
1Service of Neurology, Hospital Universitario Miguel Servet, Zaragoza, Spain. josegazulla@wanadoo.es
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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