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.

[Cerebral ischemia and epilepsy].

Introduction: We review the characteristics and evolution of epileptic crises (EC) related to non-hemorrhagic ictus. Patients and methods. Since June 1994 we have studied patients with EC both at the time of the ictus (acute symptomatic crises, ASC) and later (remote symptomatic crises RSC).

Preclinical EEG abnormalities in subacute sclerosing panencephalitis.

Persistent electroencephalographic (EEG) abnormalities were observed for 4 years before the clinical onset of subacute sclerosing panencephalitis (SSPE) in a girl initially chosen as a "normal" control subject. Neurologic or mental changes were not observed during this period. Initially, there were focal paroxysmal discharges with shifting characteristics.

Dystonia in Spain: study of a Gypsy family and general survey.

A girl from a Spanish Gypsy family developed idiopathic torsion dystonia when 12 years old. Parents were first cousins and both the pattern of clinical involvement and the rate of progression corresponded to that usually found in the autosomal recessive form of the disorder. Serum dopamin-beta-hydroxylase activity in the patient and close family members were also in keeping with this hereditary form.