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The first Swedish case of familial amyloidotic polyneuropathy (FAP) was published in 1965. The same transthyretin (TTR met30) mutation as that seen in Japanese, Portuguese, and other populations was also found in Swedish FAP patients. More than 350 patients with clinical manifestations of FAP have been diagnosed in northern Sweden, most of them originating from the areas around SkellefteA and PiteA. The mean age of onset is 56 years, much later than in patients from Japan and Portugal. To estimate the frequency of the TTR met30 mutation in the counties of Vasterbotten and Norrbotten, sera from 1276 persons aged 24 to 65 years, randomly sampled from a health programme (MONICA), were screened with the monoclonal antibody FD6. In 19 persons, 13 females and six males, a positive reaction was seen in an Elisa test using this antibody. DNA analysis confirmed the TTR met30 mutation and showed that 18 were heterozygous and one homozygous for this mutation. Other mutations were not looked for in this study. The mean TTR met30 carrier frequency in the area was 1.5% ranging from 0 0 to 8-3% in 23 subpopulations. There was a notable discrepancy between the regional distribution of the TTR met30 allele and the morbidity rate for FAP. The estimated number of TTR met'0 gene carriers in a total population of 500 000 in the area is approximately 7500. The penetrance of the TTR met'4 mutation shows considerable variation between families, and the overall diagnostic (predictive) value in this population is as low as around 2%.

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An association between bipolar affective disorder and CAG/CTG trinucleotide repeat expansions (TRE) has previously been detected using the repeat expansion detection (RED) method. Here we report that 89% of RED products (CAG/CTG repeats) Ͼ120 nt (n = 202) detected in affective disorder patients as well as unaffected family members and controls correlate with expansions at two repeat loci, ERDA1 on chromosome 17q21.3 and CTG18.1 on 18q21.1. In a set of patients and controls in which we had previously found a significant difference in RED size distribution, the frequency of expansions at the CTG18.1 locus was 13% in bipolar patients (n = 60) and 5% in controls (n = 114) (P Ͻ 0.07) with a significantly different size distribution (P Ͻ 0.03). A second set of patients were ascertained from 14 affective disorder families showing anticipation. Twelve of the families had members with RED products Ͼ120 nt. The RED product distribution was significantly different (P Ͻ 0.0007) between affected (n = 53) and unaffected (n = 123) offspring. Using PCR, a higher frequency (P Ͻ 0.04) of CTG18.1 expansions as well as a different (P Ͻ 0.02) repeat size distribution was seen between affected and unaffected offspring. In addition, a negative correlation between RED product size and the age-of-onset could be seen in affected offspring (r s = −0.3, P = 0.05, n = 43). This effect was due to an earlier onset in individuals with long CTG18.1 expansions. No difference in ERDA1 expansion frequency was seen either between bipolar patients (35%, n = 60) and matched controls (29%, n = 114), or between affected and unaffected offspring in the families. We conclude that expanded alleles at the CTG18.1 locus confers an odds ratio of 2.6-2.8 and may thus act as a vulnerability factor for affective disorder, while the ERDA1 locus seems unrelated to disease.

Abstract. In order to establish new norms of the Swedish version of the Temperament and Character Inventory (TCI), data from 2,209 Swedish individuals (age between 13 and 80) was analyzed. The second aim was to evaluate the impact of age and gender on the questionnaire scores. The third aim was to investigate whether the TCI can be meaningfully applied to adolescents in personality assessment as a basis for further research and clinical studies. Age and gender showed independent effects on personality dimensions, which implies that age and gender specific norms have to be established for the TCI. Furthermore, the results in terms of inconsistencies in the correlational and factorial structure, as well as low internal consistency scores in the younger age groups, suggest that the adult version of the TCI should not be applied below the age of 17; for these age groups we recommend the use of the junior TCI (JTCI). The inventory is under further development and several items are in need of revision in order to create less complicated formulations, enabling an improvement in the psychometrics.

Migraine is the most common type of chronic episodic headache. To find novel susceptibility genes for familial migraine with and without aura, a genomewide screen was performed in a large family from northern Sweden. Evidence of linkage was obtained on chromosome 6p12.2-p21.1, with a maximum two-point lod score of 5.41 for marker D6S452. The patients with migraine shared a common haplotype of 10 Mb between markers D6S1650 and D6S1960.

Age of onset, HA, PS, gender and family history of suicide had a moderate to very strong effect on suicide attempts in bipolar patients.