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The aim of RISCA is to answer the following questions:

What is the incidence of disease manifestation in mutation carriers?
Which clinical signs precede the onset of manifest ataxia in SCA1, SCA2, SCA3 and SCA6?
What are the prevalence and incidence of preceding signs?
Are the prevalence and incidence of preceding signs affected by genotype, gender, age, estimated time until disease manifestation and repeat length?
Does the presence of certain preceding signs predict the manifestation of ataxia?
Are there MRI alterations that precede the onset of ataxia?

Study participants are followed at 24 months intervals over six years and than at irregular intervals. At each visit, study participants are asked in a structured interview for a number of predefined clinical signs that potentially precede the onset of ataxia.

Last update – 26/05/2017

The original GAZEL cohort was composed of 20,625 employees of the French national gas and electricity companies (15,011 male employees then aged 40 to 50 years and 5,614 women between 35 and 50 years old) at its inception in 1989.

Follow-up is continuous and includes data collection on health status, lifestyle, and socioeconomic and occupational factors from various sources. A postal questionnaire is sent to the participants each year, and data are extracted regularly from the files of the personnel and medical departments of EDF-GDF and from national registers. Participants were invited in 1999-2000, 2008 and 2011 to a health clinic where medical and biological data were collected.

The main focus of research in the past decade was devoted to the study of the persistent, long-term effects of occupational exposures after retirement; of the transition between professionally active life and retirement; and on determinants of early ageing. Accordingly, in addition to the health, behavioural and social data collected yearly since the beginning of the follow-up, new data were thus collected on cognitive complaints, cognitive and physical functioning, limitations in daily activities, time use and social relationships of retirees.

Last update – 20/06/2017

The CONSTANCES general-purpose cohort is intended to serve as an epidemiological research infrastructure accessible to the epidemiologic research community with a focus on chronic diseases and aging. CONSTANCES is designed as a randomly selected representative sample of French adults aged 18-69 years at inception; 200,000 subjects will be included over a five-year period. At inclusion, the selected subjects are invited to complete questionnaires and to attend a Health Screening Clinic (HSC) for a comprehensive health examination. A biobank will be set up. The follow-up includes a yearly self-administered questionnaire, and a periodic visit to an HSC. Social and health data are collected from the French national databases. Data collected for participants include social and demographic characteristics, socioeconomic status, life events, behaviors, and occupational factors. The health data cover a wide spectrum: self-reported health scales, reported prevalent and incident diseases, long-term chronic diseases and hospitalizations, sick-leaves, handicaps, limitations, disabilities and injuries, healthcare utilization and services provided, and causes of death. To take into account non-participation at inclusion and attrition throughout the longitudinal follow-up, a cohort of non-participants was set up and will be followed through the same national databases as participants.

Last update – 20/06/2017

In 2009, when it was launched, the Tempo cohort consisted of 1,103 people between the ages of 22 and 35 who had participated in a study on children and adolescents’ health between 1991 and 1999: “Les Enfants de Gazel”.

In 2011, Tempo cohort expanded to:

– include young people aged 18-25 years who have specific health situations and life situations
– increase the number of participants to study infrequent health problems.

In 2011 1,214 people were interviewed. In 2015, 783 people participated in the study and 533 participants returned a saliva collection kit. Saliva samples allow us to identify genetic markers that are associated with addictive behaviours (tobacco, alcohol and cannabis/CBD) in relation to characteristics of people’s lives.

In total 526 respondents responded at least three times, and 334 at least four times, giving us the opportunity to examine health trajectories over time.

Participants in the Tempo cohort were asked about their health, the situations they encountered in their daily lives, their work and family experiences.

Last update – 12/05/2017

The Sydney Memory and Ageing Study (Sydney MAS) began in 2005 to examine the clinical characteristics and prevalence of mild cognitive impairment (MCI) and related syndromes, and to determine the rate of change in cognitive function over time.

Non-demented community-dwelling individuals (N=1037) aged 70-90 were recruited from two areas of Sydney, following a random approach to 8,914 individuals on the electoral roll. They underwent detailed neuropsychiatric and medical assessments and donated a blood sample for clinical chemistry, proteomics and genomics. A knowledgeable informant was also interviewed. Structural MRI scans were performed on 554 individuals, and subgroups participated in studies of falls and balance, metabolic and inflammatory markers, functional MRI and prospective memory. The cohort is to be followed up with brief telephone reviews annually, and detailed assessments biannually.

Last update – 20/07/2017

Disease follow-up for all the cohorts is conducted by active follow-up every 5 years and linkage to national disease and death registries.

The Singapore Health study is a nationally representative cross-sectional survey with the aim to estimate the prevalence of:

Health conditions of hypertension, hyperlipidaemia, diabetes, overweight and obesity, hearing loss and chronic kidney disease, mental wellbeing and to allow comparison of these data with the National Health Survey 2010;
Specific health behaviours; and
Participation in health screening for chronic diseases, cervical cancer, breast cancer, colorectal cancer

2,352 Singapore citizens and permanent residents of age 18 to 79 years old participated in the survey from August 2012 to March 2013. Overall response rate was 40%. 1956 of the participants also underwent physical examination, additional surveys and provided blood and urine samples for tests and storage.

Last update – 28/06/2017

The Northern Finland Birth Cohort Studies is an epidemiological and longitudinal research program which aims to promote health and well-being of the population. The prospective data collected from the Northern Finland forms a unique resource, allowing to study the emergence of diseases which can be based on genetic, biological, social or behavioural risk factors.

NFBC includes two longitudinal and prospective birth cohorts of women and offspring collected at 20-year intervals from the same provinces of Oulu and Lapland: The NFBC1966 was set with an expected date of birth in 1966, comprising of 12,068 mothers and 12,231 children (prospective data collection from maternity cards since 16th gestational week on average), and the NFBC1986 with an expected date of birth between July, 1st 1985 and June, 30th 1986, comprising 9,362 mothers and 9,479 children (prospective data collection from 10th gestational week).

Last update – 02/05/2017

The Airwave Health Monitoring Study was established to evaluate possible health risks associated with the use of TETRA, a digital communication system used by the police forces and other emergency services in Great Britain since 2001. It is a long-term observational study following up the health of the police force with respect to TETRA exposure, and ability to monitor both cancer and non-cancer health outcomes. Around 53,000 participants have been recruited between 2004 and 2015.

Last update – 05/05/2017

This is the largest multi-centre study of ageing in men in the world and intends to identify the nature and frequency of some of the symptoms of ageing in men, the relationships between these symptoms to hormonal changes and other risk factors.

In total, 3369 men in 8 different countries in Europe are taking part in the study. These 8 centres are Manchester – UK, Malmo – Sweden, Tartu – Estonia, Lodz – Poland, Szeged – Hungary, Florence – Italy, Santiago de Compostela – Spain, Leuven – Belgium. In each centre, ~400 men aged between 40 and 79 years at the start of the study have been recruited. They will be followed up to look for future changes in their hormonal and general health status. The men will be investigated initially on two occasions, at the start and then ~5 years later. It is highly likely that the study will continue beyond 5 years and further testing will be organised subsequently. The aims of the study are to:

Document geographical variations in the ageing-related involution decline of endocrine function in European men;
Explain the variability in the rate of secular decline in endocrine functions on the basis of socio-demographic, lifestyle, co-morbid, ethnic/racial, or genetic factors;
Predict the physical and psychological health status of individuals based on the variation in ageing-related endocrine decline and changes in body composition.

Last update – 24/04/2017

Initially, the study focus was on perinatal, infant, and early childhood morbidity and mortality. We were particularly interested in breastfeeding patterns and nutritional status, as well as social and environmental factors. Deaths of cohort members were identified by regular visits to all hospitals, cemeteries, offices of civil registrations, and local health authorities, since 1982.

By mid-childhood, the study shifted in emphasis to child care, utilization of health services, selected morbidity indicators, and child development. A random sub-sample of 360 four-year-olds was selected for an in-depth study of psychomotor development.

In adolescence, issues related to sexual and reproductive behaviours (including teenage pregnancies), habits such as smoking and alcohol drinking, mental health, and education became the focus of the investigation. A sub-study investigated oral health in a random sample of 900 adolescents, and an ethnographic study of 96 cohort members, stratified by sex and socioeconomic status, has included repeated in-depth visits from the age of 15 to 30 years, aimed at understanding the role of adolescent development in influencing high-risk behaviours.

In more recent phases, with cohort members being young adults, the main emphasis has shifted to risk factors for chronic disease (including smoking, diet, physical exercise, and overweight), reproductive history, and mental health.

Last update – 21/06/2017