Sensory neuronopathy in ataxia with oculomotor apraxia type 2.

The objective of this article has been to describe the presence of a sensory neuronopathy in a patient harbouring ataxia with oculomotor apraxia type 2 (AOA2). A 40 year-old woman, born to consanguineous parents, presented with ataxia, decreased vibration sense, areflexia, indifferent plantar responses, preserved muscle volume and strength, and oculomotor apraxia; elevated levels of serum alpha-fetoprotein and creatine-kinase were found. A homozygous missense mutation, causing a substitution of a molecule of arginine for histidine at the helicase domain of the senataxin protein, was found.

Sensorimotor neuronopathy in ataxia with oculomotor apraxia type 2.

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.

Levetiracetam plasma level monitoring during pregnancy, delivery, and postpartum: clinical and outcome implications.

Variations in the plasma concentration of levetiracetam during pregnancy and postpartum were prospectively monitored in five women to investigate their potential implications in epilepsy management and child outcome. Under unchanged levetiracetam dosages, the mean concentrations of levetiracetam during the third trimester were 62% of the baseline late (12 month) postpartum levels, but only 47% of the baseline early postpartum (2 month) levetiracetam levels. In dual therapy with lamotrigine, baseline late postpartum levetiracetam clearance was 63.