University of Luxembourg

About: University of Luxembourg is a education organization based out in Luxembourg, Luxembourg. It is known for research contribution in the topics: Population & European union. The organization has 4744 authors who have published 22175 publications receiving 381824 citations.

On the origin of interoception.

Abstract: Over the course of a century, the meaning of interoception has changed from the restrictive to the inclusive. In its inclusive sense, it bears relevance to every individual via its link to emotion, decision making, time-perception, health, pain, and various other areas of life. While the label for the perception of the body state changes over time, the need for an overarching concept remains. Many aspects can make any particular interoceptive sensation unique and distinct from any other interoceptive sensation. This can range from the sense of agency, to the physical cause of a sensation, the ontogenetic origin, the efferent innervation, and afferent pathways of the tissue involved amongst others. In its overarching meaning, interoception primarily is a product of the central nervous system, a construct based on an integration of various sources, not per se including afferent information. This paper proposes a definition of interoception as based on subjective experience, and pleas for the use of specific vocabulary in addressing the many aspects that contribute to it.

De Novo Loss-of-Function Mutations in CHD2 Cause a Fever-Sensitive Myoclonic Epileptic Encephalopathy Sharing Features with Dravet Syndrome

Abstract: Dravet syndrome is a severe epilepsy syndrome characterized by infantile onset of therapy-resistant, fever-sensitive seizures followed by cognitive decline. Mutations in SCN1A explain about 75% of cases with Dravet syndrome; 90% of these mutations arise de novo. We studied a cohort of nine Dravet-syndrome-affected individuals without an SCN1A mutation (these included some atypical cases with onset at up to 2 years of age) by using whole-exome sequencing in proband-parent trios. In two individuals, we identified a de novo loss-of-function mutation in CHD2 (encoding chromodomain helicase DNA binding protein 2). A third CHD2 mutation was identified in an epileptic proband of a second (stage 2) cohort. All three individuals with a CHD2 mutation had intellectual disability and fever-sensitive generalized seizures, as well as prominent myoclonic seizures starting in the second year of life or later. To explore the functional relevance of CHD2 haploinsufficiency in an in vivo model system, we knocked down chd2 in zebrafish by using targeted morpholino antisense oligomers. chd2-knockdown larvae exhibited altered locomotor activity, and the epileptic nature of this seizure-like behavior was confirmed by field-potential recordings that revealed epileptiform discharges similar to seizures in affected persons. Both altered locomotor activity and epileptiform discharges were absent in appropriate control larvae. Our study provides evidence that de novo loss-of-function mutations in CHD2 are a cause of epileptic encephalopathy with generalized seizures.

Spinocerebellar ataxia type 6: genotype and phenotype in German kindreds

Abstract: OBJECTIVE Spinocerebellar ataxia type 6 (SCA6) is an autosomal dominant cerebellar ataxia (ADCA) of which the mutation causing the disease has recently been characterised as an expanded CAG trinucleotide repeat in the gene coding for the α 1A -subunit of the voltage dependent calcium channel. The aim was to further characterise the SCA6 phenotype METHODS The SCA6 mutation was investigated in 69 German families with ADCA and 61 patients with idiopathic sporadic cerebellar ataxia and the CAG repeat length of the expanded allele was correlated with the disease phenotype. RESULTS Expanded alleles were found in nine of 69 families as well as in four patients with sporadic disease. Disease onset ranged from 30 to 71 years of age and was significantly later than in other forms of ADCA. Age at onset correlated inversely with repeat length. The SCA6 phenotype comprises predominantly cerebellar signs in concordance with isolated cerebellar atrophy on MRI. Non-cerebellar systems were only mildly affected with external ophthalmoplegia, spasticity, peripheral neuropathy, and parkinsonism. Neither these clinical signs nor progression rate correlated with CAG repeat length. CONCLUSIONS This study provides the first detailed characterisation of the SCA6 phenotype. Clinical features apart from cerebellar signs were highly variable in patients with SCA6. By comparison with SCA1, SCA2, and SCA3 no clinical or electrophysiological finding was specific for SCA6. Therefore, the molecular defect cannot be predicted from clinical investigations. In Germany, SCA6 accounts for about 13% of families with ADCA. However, up to 30% of SCA6 kindreds may be misdiagnosed clinically as sporadic disease due to late manifestation in apparently healthy parents. Genetic testing is therefore recommended for the SCA6 mutation also in patients with putative sporadic ataxia.

Working memory in multilingual children: is there a bilingual effect?

Abstract: This research investigates whether early childhood bilingualism affects working memory performance in 6- to 8-year-olds, followed over a longitudinal period of 3 years. The study tests the hypothesis that bilinguals might exhibit more efficient working memory abilities than monolinguals, potentially via the opportunity a bilingual environment provides to train cognitive control by combating interference and intrusions from the non-target language. A total of 44 bilingual and monolingual children, matched on age, sex, and socioeconomic status, completed assessments of working memory (simple span and complex span tasks), fluid intelligence, and language (vocabulary and syntax). The data showed that the monolinguals performed significantly better on the language measures across the years, whereas no language group effect emerged on the working memory and fluid intelligence tasks after verbal abilities were considered. The study suggests that the need to manage several language systems in the bilingual mind has an impact on children's language skills while having little effects on the development of working memory.