Towards certification of new statistics of public interest in France

This paper presents the analysis and proposal to qualify new statistics of public interest in France. It describes the present situation regarding the qualification of statistics produced independent of the National Statistical System and the challenges related to their emergence, as these statistics may complement and sometimes challenge official statistics. The authors propose a three-tier mechanism; the first level is limited to self-documentation of a statistic based on a predefined template, the second level is the approval of such documentation, and the third level involves the approval of the documentation including the methodology and quality of output

Identification of genetic variants associated with Huntington's disease progression: a genome-wide association study

Background Huntington's disease is caused by a CAG repeat expansion in the huntingtin gene, HTT. Age at onset has been used as a quantitative phenotype in genetic analysis looking for Huntington's disease modifiers, but is hard to define and not always available. Therefore, we aimed to generate a novel measure of disease progression and to identify genetic markers associated with this progression measure. Methods We generated a progression score on the basis of principal component analysis of prospectively acquired longitudinal changes in motor, cognitive, and imaging measures in the 218 indivduals in the TRACK-HD cohort of Huntington's disease gene mutation carriers (data collected 2008–11). We generated a parallel progression score using data from 1773 previously genotyped participants from the European Huntington's Disease Network REGISTRY study of Huntington's disease mutation carriers (data collected 2003–13). We did a genome-wide association analyses in terms of progression for 216 TRACK-HD participants and 1773 REGISTRY participants, then a meta-analysis of these results was undertaken. Findings Longitudinal motor, cognitive, and imaging scores were correlated with each other in TRACK-HD participants, justifying use of a single, cross-domain measure of disease progression in both studies. The TRACK-HD and REGISTRY progression measures were correlated with each other (r=0·674), and with age at onset (TRACK-HD, r=0·315; REGISTRY, r=0·234). The meta-analysis of progression in TRACK-HD and REGISTRY gave a genome-wide significant signal (p=1·12 × 10−10) on chromosome 5 spanning three genes: MSH3, DHFR, and MTRNR2L2. The genes in this locus were associated with progression in TRACK-HD (MSH3 p=2·94 × 10−8 DHFR p=8·37 × 10−7 MTRNR2L2 p=2·15 × 10−9) and to a lesser extent in REGISTRY (MSH3 p=9·36 × 10−4 DHFR p=8·45 × 10−4 MTRNR2L2 p=1·20 × 10−3). The lead single nucleotide polymorphism (SNP) in TRACK-HD (rs557874766) was genome-wide significant in the meta-analysis (p=1·58 × 10−8), and encodes an aminoacid change (Pro67Ala) in MSH3. In TRACK-HD, each copy of the minor allele at this SNP was associated with a 0·4 units per year (95% CI 0·16–0·66) reduction in the rate of change of the Unified Huntington's Disease Rating Scale (UHDRS) Total Motor Score, and a reduction of 0·12 units per year (95% CI 0·06–0·18) in the rate of change of UHDRS Total Functional Capacity score. These associations remained significant after adjusting for age of onset. Interpretation The multidomain progression measure in TRACK-HD was associated with a functional variant that was genome-wide significant in our meta-analysis. The association in only 216 participants implies that the progression measure is a sensitive reflection of disease burden, that the effect size at this locus is large, or both. Knockout of Msh3 reduces somatic expansion in Huntington's disease mouse models, suggesting this mechanism as an area for future therapeutic investigation

L'âge des Français : contrastes régionaux et opposition ville-campagne

[fre] La répartition par âge de la population n'est pas uniforme sur tout le territoire. Certaines régions sont plus « jeunes » que d'autres, parce que la fécondité y est restée relativement élevée et parce que, plus urbanisées, elles attirent les jeunes actifs. Les autres régions vieillissent à mesure que les jeunes s'en vont et que certains retraités retournent au pays. Le déséquilibre ville-campagne s'accentue. Les jeunes adultes sont sous-représentes dans les zones rurales mais aussi dans les petites villes. Dans les grandes villes en revanche, la proportion de jeunes adultes est assez nettement supérieure à la moyenne. L'agglomération parisienne constitue un cas extrême : déficit en adolescents et en personnes âgées, excédent en adultes dans la banlieue; peu de familles, donc peu d'enfants, et beaucoup d'isolés, personnes âgées et jeunes actifs, dans la ville de Paris elle-même. [eng] The age of the french: regional contrasts and the city-country opposition - The age distribution of the population is not uniform throughout the territory. Certain regions' are "younger" than others because the birth rate there has remained relatively high and because these more urbainized regions attract young working people. The other regions grow old to the extent that young people leave and certain retired people return to the area. The city-country disequilibrium is becoming more marked. Young adults are under-represented in rural zones and also in small cities. In large cities, on the contrary, the proportion of young adults is clearly greater than average. The Paris metropolitan region constitutes an extreme case: in the suburbs, a lack of adolescents and older people; in the city of Paris itself, few families, thus, few children and many isolated individuals, older people and young workers. [spa] La edad de los franceses : contrastes régionales y contraste ciudad-campo - La distribución por edad de la población no es igual en todo el territorio. Algunas regiones se verifican más «jóvenes» que otras, porque la fecundidad permaneció en ellas relativamente elevada puesto que, más urbanizadas, atraen los activos juveniles. Las demás regiones envejecen a medida que la juventud se va marchando y que algunos retirados regresan al terruno. El desequilibrio entre ciudad y campo va creciendo. Los jóvenes adultos están subrepresentados en las zonas rurales así como también en las pequenas poblaciones. En las grandes urbes, en cambio, la proporción de adultos jóvenes es rotundamente superior al promedio. La aglomeración parisina constituye un caso extremo : déficit de adolescentes y personas entradas en años, excedente de adultos en la perifería, escasas familias, por consiguiente pocos niños, y muchas personas solas, ancianos y jóvenes activos en la propia ciudad de Paris.

La France vieillit mais les contrastes régionaux s'atténuent

[fre] La France vieillit mais les contrastes régionaux s'atténuent . La répartition par âge de la population n'est pas uniforme sur tout le territoire. Certaines régions sont plus "jeunes" que d'autres, parce que la fécondité y est restée relativement élevée et parce que, plus urbanisées, elles attirent les jeunes actifs. De même, les oppositions ville-campagne et ville-centre-banlieue demeurent fortes. Les personnes âgées sont sous-représentées dans les banlieues mais leur proportion est supérieure à la moyenne dans les villes-centres et les campagnes ; le déficit des jeunes générations perdure dans les communes rurales. Cependant, sur les quinze dernières années, les contrastes régionaux s'atténuent sous l'effet des migrations des classes d'âge de moins de 50 ans du Nord vers le Sud. Il n'en demeure pas moins vrai que l'ensemble de la France métropolitaine vieillit ; une personne sur cinq a maintenant plus de 60 ans. [eng] France is Aging, but Regional Differences are Diminishing . The age breakdown of the population is not uniform throughout the territory. Some regions are "younger" than others, where fertility has remained relatively high and . where there are more urban areas to attract young workers. Similarly, the town-country and town centre- suburbs contrasts remain distinct. The elderly are under-represented in the suburbs, but show a higher proportion than average in town centres and the country. . In addition, the deficit in the young generations persists in the rural communities. However, over the last fifteen years, regional differences have been tapering off under the effect of the migration of the under-50s from the North to the South. The fact nonetheless remains that all of metropolitan France is aging; one person out of five is now over 60 years old. [ger] Ùberalterung der franzôsischen Bevôlkerung bei gleichzeitiger Abschwâchung der regionalen Unterschiede . Die Altersstruktur der franzôsischen Bevôlkerung weist regionale Unterschiede auf. Manche Regionen haben eine "jùngere" Bevôlkerung als andere, da die Geburtenrate . dort auch weiterhin relativ hoch ist und sie aufgrund ihrer stàrkeren Urbanisierung mehr jugendliche Erwerbstàtige anlocken. Daneben sind auch die Gegensâtze zwischen Stadt und Land sowie zwischen Stadtzentrum und Vorort . nach wie vor stark ausgepràgt. In den Vororten sind die âlteren Menschen zwar unterrepràsentiert, ihr durchschnittlicher Anteil ist hier jedoch grôBer als in den Stadt- zentren und auf dem Lande. In den lândlichen Gebieten nimmt das Defizit an Jugendlichen weiter zu. Infolge der Nord/Sùd-Wanderbewegungen der Altersgruppen unter 50 Jahren haben sich die regionalen Unterschiede in den letzten fùnfzehn Jahren allerdings abgeschwàcht. Den- noch ist nicht von der Hand zu weisen, dal3 die Bevôlkerung im kontinentalen Frankreich insgesamt alter wird. Jeder fûnfte ist nunmehr ûber 60 Jahre ait. [spa] Francia envejece pero los contrastes régionales se atenûan . El reparto por edad de la poblaciôn no es un iforme en todo el territorio. Algunas regiones son mâs jôvenes que otras, porque la fecundidad sigue en ellas relativamente elevada y porque, siendo mâs urbanizadas, atraen a los jôvenes activos. Asimismo siguen siendo fuertes las oposiciones ciudad-campo y ciudad centro-afueras. Los ancianos estân poco representados en las afueras pero su proporciôn es superior al promedio en las ciudades centra y en los campos ; el déficit de las jôvenes generaciones perdura en las comunas rurales. En los ûltimos quince arïos, sin embargo, se atenûan los contrastes régionales bajo el efecto de migraciones de las clases de edad de menos de cincuenta anos del Norte hacia el Sur. Lo cierto es que va envejeciendo toda la Francia metropolitana ; uno de cada cinco individuos tiene ahora mâs de sesenta anos.

Avant‑Propos. La rénovation du Recensement de la population

Godinot Alain, Durr Jean-Michel. Avant‑Propos. La rénovation du Recensement de la population. In: Economie et statistique, n°483-485, 2016. Le Recensement rénové : avancées méthodologiques et apports à la connaissance. pp. 7-14

Avant‑Propos. La rénovation du Recensement de la population

Godinot Alain, Durr Jean-Michel. Avant‑Propos. La rénovation du Recensement de la population. In: Economie et statistique, n°483-485, 2016. Le Recensement rénové : avancées méthodologiques et apports à la connaissance. pp. 7-14

Distribution of the freshwater snail Gyraulus rossmaessleri (Auerswald, 1852) (Mollusca, Gastropoda, Planorbidae) at the present and past western limit of its range (north-eastern France)

International audienceGyraulus rossmaessleri (Auerswald, 1852) is a freshwater planorbid gastropod that occurs mainly in lowland temporary water bodies and is widespread in Europe as far as Siberia. Its presence in France has only been recorded in Alsace in the Upper Rhine Valley, which represents its westernmost distribution boundary. In this paper, we report and describe new localities from the Alsatian rieds, emblematic regional landscapes of flooded meadows. These new data significantly extend the regional distribution of G. rossmaessleri. The species seems to be restricted to damp or wet oligotrophic grasslands, especially with Molinia caerulea, hygromesophilic hay meadows at low and medium altitudes, hygrophilic hay meadows flooded for long periods by rising groundwater, meadows with water ragwort and marginal to marshy willow shrublands. Although these habitats may be more or less extensive and open, the species is only found in small patches in depressions and/or shaded areas. According to our observations, individuals can survive several months of drought in summer by withdrawing deep into their shell and closing it with an epiphragm. These key microhabitats appear to be essential for the maintenance of species in the floodplain meadows of the rieds, which are under pressure from intensive agriculture and recurrent droughts. In addition, our review of palaeontological data suggests that during the Middle and Late Pleistocene G. rossmaessleri was more widespread along its western margin and was associated with a cold-tolerant fauna. Finally, given the general decline of the species, the loss and pollution of habitats, particularly in the Upper Rhine Valley, and its remarkable ecology of both dry and cold-adapted species, we argue that Gyraulus rossmaessleri should be better considered in the management and conservation of natural areas and/or could play a key role as umbrella/flagship species for the conservation of these iconic regional habitats

SPG11 spastic paraplegia : A new cause of juvenile parkinsonism.

International audienceAutosomal recessive hereditary spastic paraplegia (AR HSP) with thin corpus callosum (TCC) is a rare neurodegenerative disorder often caused by mutations in the gene encoding for spatacsin at the SPG11 locus on chromosome 15q. The disease is characterized by progressive spastic paraparesis and mental retardation which occur during the first two decades of life and frequently with peripheral neuropathy. Brain magnetic resonance imaging (MRI) reveals typical TCC with periventricular white matter changes. We describe two patients, of Turkish descent, from the same consanguineous family and affected with SPG11 in association with unusual early-onset parkinsonism. Parkinsonism occurred during the very early stages of SPG11 in both patients, being in one the inaugural symptom of the disease presented as a resting tremor with akinesia, rigidity and expressing an initial moderate levodopa-response that progressively weakened. The second patient presented a resting tremor with mild akinesia and no levodopa-response. Both patients were affected with progressive spastic paraparesis which had initially occurred at 15 and 12 years of age, respectively, in association with mild mental retardation and an axonal polyneuropathy. TCC with periventricular white matter changes (PWMC) was evident by MRI and (123)I-ioflupane SPECT was abnormal. Genetic analysis detected for both patients a new c.704_705delAT, p.H235RfsX12 homozygous mutation in SPG11. This report provides evidence that parkinsonism may initiate SPG11-linked HSP TCC and that SPG11 may cause juvenile parkinsonism