Are c.436G>A mutations less severe forms of Lafora disease? A case report.

Lafora disease is a form of progressive myoclonic epilepsy with autosomal recessive transmission. Two genes have been identified so far: EPM2A and NHLRC1, and a third gene, concerning a pediatric onset subform, has been recently proposed. We report the case of a 23-year-old woman of Turkish origin with an unusual disease course.

The effect of age and educational level on the cognitive processes used to comprehend the meaning of pictograms.

Background And Aims: Pictograms, designed to be a universal communication system, are often created from several concrete and easily recognizable drawings. Does understanding depend on a logical approach? Or is it the ability to inhibit the concrete sense of each picture that allows access to a higher level of comprehension? (ability to abstract). These executive functions are sensitive to the effects of aging and educational level.

Confirmation of the amyloidogenic process in posterior cortical atrophy: value of the Aβ42/Aβ40 ratio.

Posterior cortical atrophy (PCA) is characterized by progressive higher-order visuo-perceptual dysfunction and praxis declines. This syndrome is related to several underlying diseases, including Alzheimer's disease (AD), sometimes involving an amyloidogenic process. The aims of the study were to 1) define cerebrospinal fluid (CSF) biomarker profiles in PCA patients compared to AD patients and 2) explore the amyloidogenic process through the Aβ(42)/Aβ(40) ratio in PCA patients to elucidate the underlying disease in vivo.

Outcome at adulthood of the continuous spike-waves during slow sleep and Landau-Kleffner syndromes.

Purpose: The aim of this study was to determine the clinical, social, and/or professional and cognitive outcomes in adulthood of the continuous spike-waves during slow sleep (CSWS) and Landau-Kleffner syndromes, which are two rare epileptic syndromes occurring in children.

Methods: We enrolled seven young adults, five who had a CSWS syndrome, and two, a Landau-Kleffner syndrome in childhood. We evaluated their intellectual level as well as their oral and written language and executive functions.