Data collection for the Norwegian Cognitive NeuroGenetics sample (NCNG) was initiated in 2003 with a research grant (to Ivar Reinvang) to study cognitive aging, brain function, and genetic risk factors. The original focus was on the effects of aging (from middle age and up) and candidate genes (e.g., APOE, CHRNA4) in cross-sectional and longitudinal designs, with the cognitive and MRI-based data primarily being used for this purpose. However, as the main topic of the project broadened from cognitive aging to imaging and cognitive genetics more generally, the sample size, age range of the participants, and scope of available phenotypes and genotypes, have developed beyond the initial project. In 2009, a genome-wide association (GWA) study was undertaken, and the NCNG proper was established to study the genetics of cognitive and brain function more comprehensively. The NCNG is now controlled by the NCNG Study Group, which consists of the present authors. Prominent features of the NCNG are the adult life-span coverage of healthy participants with high-dimensional imaging, and cognitive data from a genetically homogenous sample. Another unique property is the large-scale (sample size 300–700) use of experimental cognitive tasks focusing on attention and working memory. The NCNG data is now used in numerous ongoing GWA-based studies and has contributed to several international consortia on imaging and cognitive genetics. The objective of the following presentation is to give other researchers the information necessary to evaluate possible contributions from the NCNG to various multi-sample data analyses.

Familial hemiplegic migraine (FHM) is a rare autosomal dominant subtype of migraine with aura. It is divided into three subtypes FHM1, FHM2 and FHM3, which are caused by mutations in the CACNA1A, ATP1A2 and SCN1A genes respectively. As part of a regular diagnostic service, we investigated 168 patients with FHM symptoms. Samples were tested for mutations contained within the CACNA1A gene. Some tested samples (4.43%) showed an FHM1 mutation, with five of the mutations found in exon 5, one mutation in exon 16 and one in exon 17. Four polymorphisms were also detected, one of which occurred in a large percentage of samples (14.88%). The exon 16 2094G>A polymorphism, however, has been found to occur in healthy Caucasian control populations up to a frequency of 16% and is not considered to be significantly associated with FHM. A finding of significance, found in a single patient, was the detection of a novel mutation in exon 5 that results in a P225H change. The affected individual was an 8-year-old female. The exact phenotypic effect of this mutation is unknown, and further studies are needed to understand the pathophysiology of this mutation in FHM1. New information will allow for diagnostic procedures to be constantly updated, thus improving accuracy of diagnosis. It is possible that new information will also aid the development of new therapeutic agents for the treatment of FHM.

From childhood into adolescence, the child's brain undergoes considerable changes in both structure and function. Twin studies are of great value to explore to what extent genetic and environmental factors explain individual differences in brain development and cognition. In The Netherlands, we initiated a longitudinal study in which twins, their siblings and their parents are assessed at three year intervals. The participants were recruited from The Netherlands Twin Register (NTR) and at baseline consisted of 112 families, with 9-year-old twins and an older sibling. Three years later, 89 families returned for follow-up assessment. Data collection included psychometric IQ tests, a comprehensive neuropsychological testing protocol, and parental and self-ratings of behavioral and emotional problems. Physical maturation was measured through assessment of Tanner stages. Hormonal levels (cortisol, luteinizing hormone, follicle-stimulating hormone, testosterone, and estrogens) were assessed in urine and saliva. Brain scans were acquired using 1.5 Tesla Magnetic Resonance Imaging (MRI), which provided volumetric measures and measures of cortical thickness. Buccal swabs were collected for DNA isolation for future candidate gene and genome-wide analysis studies. This article gives an overview of the study and the main findings. Participants will return for a third assessment when the twins are around 16 years old. Longitudinal twin-sibling studies that map brain development and cognitive function at well-defined ages aid in the understanding of genetic influences on normative brain development.

Mutations in the thyroglobulin (TG) gene, which has an estimated incidence of approximately 1 in 100,000 new-borns, cause autosomal recessive congenital hypothyroidism. The mutational spectrum of the TG gene and the phenotype–genotype correlations have not yet fully been established. We report a compound heterozygous mutation in the TG gene in a Chinese twin family with congenital goiter and hypothyroidism. We also describe the gene mutation associated with the genotype–phenotype of these children with congenital goiter and hypothyroidism. The whole coding sequence of the TG gene was analyzed by direct sequence, and the identified changes in the sequence were tested for benign polymorphism by denaturing high-performance liquid chromatography screening of the mutation and sequencing 200 chromosomes from normal controls. Analysis of the TG gene of the affected twin revealed a compound heterozygous mutation, including a novel missense mutation G2687A, which is predicted to result in a glutamine to arginine substitution at codon 877, and a known nonsense mutation C7006T, predicted to result in an arginine to stop codon at codon 2317. Analysis of 200 normal chromosomes did not identify the same change in healthy subjects. This is the first report of a TG gene mutation in the Chinese Han population. Our study provides further evidence that mutations in the TG gene cause congenital goiter and hypothyroidism, demonstrates genetic heterogeneity of the mutation, and increases our understanding of phenotype–genotype correlations in congenital hypothyroidism.

Mechanisms underlying effects of physical factors on twin births are unclear. The present work studied an association between monthly and yearly multiple birth rates (MBRs) in the Novosibirsk region, south-west Siberia, in relation to solar activity (sunspot numbers) and geomagnetic activity (Ap index) from 1957 to 2008. The difference was verified by comparing the yearly MBR observed in 3-year peaks (M = 7.36, SD = 0.33 per 1,000 births) and 3-year troughs (M = 8.10, SD = 0.31 per 1,000 births, p < .001) of an 11-year solar cycle. An inverse correlation (r = –.60, p < .001) was found between sunspot numbers and MBR for a lag of 1 year. Cross-spectral analysis of a 52-year time series established a common signal with the period of 10.5 years, as well as high coherence (K(2) = 0.87). The multiple regression analysis revealed a significant interaction of solar and geomagnetic effects upon the frequency of twin maternities. The results show that elevated solar activity within the 11-year cycle coinciding with the time of conception inhibits multiple births in a manner depending on geomagnetic activity. It is hypothesized that the likely mechanism underlying the association is early fetal loss induced by solar radiation/flux and its terrestrial mediators.

Naturally occurring co-twin control designs can assess associations between environmental hazards and disease risk because the genotypes of monozygous twins are the same. The first population-based study to explore links between solvent exposure and Parkinson's disease used 49 discordant monozygous twin pairs, as well as a comparison group of 50 discordant dizygous twin pairs. The methods, findings and implications from this important study are reviewed. Reviews of twin research concerning gender identity disorder, prenatal development and the VATER syndrome follow. A sampling of engaging and informative twin-related news items is also presented.

The First International Twins Conference held in the Czech Republic (CR) took place in Prague on October 20–21, 2011. The conference, ‘Life With Twins’, was arranged under the auspices of the Parliament's Commission for Family and Equal Opportunities. The setting was an auditorium in one of the Parliament's magnificent old buildings. Mrs. Klara Vitkova Rulikovà, mother of 18-year-old opposite-sex twins, chairperson of the Czech multiple birth association (CAKDAV) and member of the International Council of Multiple Birth Organizations (ICOMBO), was instrumental in organizing the meeting. Mrs. Vitkova Ruliková has also authored three books on twins and parenting, and was responsible for writing the Epilogue for my 2005 book, Indivisible by Two: Lives of Extraordinary Twins (Ned litelnà Dvěma: životy Výjime ných Dvojǎt), which was translated into Czech by Triton Press in 2009. She is currently working in the Ministry of Labour and Social Affairs. She is shown in Figure 1 addressing the conference.