National French survey on tele-transmission of EEG recordings: More than a simple technological challenge.

OBJECTIVES: Assessment of current practice and the need for tele-transmission and remote interpretation of EEG in France. Transmission of EEG to a distant center could be a promising solution to the problem of decreasing availability of neurophysiologists for EEG interpretation, in order to provide equity within health care services in France. This practice should logically follow the legal framework of telemedicine and the recommendations that were recently edited by the Société de neurophysiologie clinique de langue française (SNCLF) and the Ligue française contre l'épilepsie (LCFE). METHODS: A national survey was designed and performed under the auspices of the SNCLF. RESULTS: This survey reveals that there is an important gap between the official recommendations and the "reality on the ground". These local organizations were mainly established through the impulse of individual initiatives, rarely driven by health regulatory authorities and sometimes far from legal frameworks. For the majority, they result from a need to improve medical care, especially in pediatrics and neonatology, and to ensure continuity of care. When present, tele-transmission of EEG is often only partially satisfactory, since many technical procedures have to be improved. Conversely, the lack of tele-transmission of EEG would penalize medical care for some patients. CONCLUSIONS: The survey shows both the wealth of local initiatives and the fragility of most existing networks, emphasizing the need for better cooperation between regulatory authorities and health care professionals to establish or improve the transmission of EEG in France.

Refined genetic mapping of autosomal recessive chronic distal spinal muscular atrophy to chromosome 11q13.3 and evidence of linkage disequilibrium in European families.

Chronic distal spinal muscular atrophy (Chronic DSMA, MIM (*)607088) is a rare autosomal recessive disorder characterized by a progressive motor weakness and muscular atrophy, predominating in the distal parts of the limbs. A form of Chronic DSMA gene has been previously mapped to chromosome 11q13 in the 10.3 cM interval defined by loci D11S1889 and D11S1321. By linkage analysis in 12 European Chronic DSMA families, we showed that a disease gene maps to chromosome 11q13.3 (Z(max)=6.66 at theta=0.00 at the DSM4 locus) and suggested that this condition is genetically homogeneous. Recombination events allowed us to reduce the genetic interval to a 2.6 cM region, telomeric to the IGHMBP2 gene, excluding this gene as the disease causing gene in Chronic DSMA. Moreover, partial linkage disequilibrium was found between three rare alleles at loci D11S1369, DSM4 and D11S4184 and the mutant chromosome in European patients. Analysis of the markers at these loci strongly suggests that most Chronic DSMA chromosomes are derived from a single ancestor. Refinement of the Chronic DSMA locus will hopefully allow to test candidate genes and lead to identification of the disease-causing mutations.