An observational study of first-line valproate monotherapy in focal epilepsy.

The objective of this multinational open-label, prospective study was to collect, under naturalistic conditions, data on the effectiveness and tolerability of first-line monotherapy with valproate in subjects newly or recently diagnosed with focal onset epilepsy. Patients were treated with sustained release sodium valproate. Seizure control and occurrence of adverse events were assessed after 6 months. Around 1192 adults and 792 children were included. The mean daily valproate dose was 683 mg in children and 987 mg in adults. The retention rate at 6 months was 90.0%. At this time, 77% of subjects were seizure free (83.7% of children and 72.7% of adults). Adverse events possibly related to treatment were observed in 10.2% of subjects, leading to treatment modification for 1.7%. The most common adverse events were weight gain, gastro-intestinal, neurological and skin disorders. Sustained release sodium valproate is effective and shows acceptable tolerability as first-line monotherapy in focal onset epilepsy.

Clinical evidence for genomic imprinting in bipolar I disorder.

The phenotypic indicators of the genomic imprinting model were applied to clinical psychopathology data on 100 bipolar (BP) I probands and their families. The paternal transmission was associated with a significantly younger age of onset of the BP illness in probands and a higher rate of affective disorders in first- and second-degree relatives. The effect of the sex of the transmitting parent on age of onset in probands decreased but remained significant when controlling for the effect of the probands' age at investigation. Probands' sex had no significant influence on their age of onset. The severity of the BP illness in probands in terms of number of illness episodes and annual frequency was not influenced by the sex of the transmitting parent.

Adolescent offspring of endogenous unipolar depressive parents and of normal parents.

Ninety-six children aged 10-17 of unipolar endogenous depressive proband parents and 96 matched control children of well parents were investigated using DSM-IIIR diagnostic criteria. Both sets of parents were also studied. Although the rate of psychopathology was significantly higher in proband than in control children, adaptive functioning as a measure of the severity of the psychopathology did not differentiate the two groups of children. Among factors related to the mental status of the children were: severity and onset under 30 years of age of the parental depression and lifelong association of parental anxiety with depression. Personality measurements performed in children showed different personality structures in proband offspring. Data on adolescent psychopathology and personality showed little evidence of a homotypic relationship with the adult affective disorders.

Sensorimotor neuropathy in a patient with Marinesco-Sjögren syndrome.

A case of Marinesco-Sjögren syndrome, displaying the characteristic signs (ataxia, congenital cataract and mental retardation) is presented. Electrophysiological examination pointed to the presence of a sensorimotor peripheral neuropathy with an underlying mixed process of segmental demyelination and axonal degeneration (probably secondary). The sural nerve and gastrocnemius biopsy confirmed these data, showing that in this case the segmental demyelination process was accompanied by axonal degeneration.