The cause of stillbirth and preterm delivery is often unknown. We studied the prevalence of Chlamydia trachomatis antibodies in mothers with stillbirth and preterm labor. Serum specimens from 72 mothers with stillbirth after the 21st gestational week, and from 48 mothers with preterm delivery between gestational weeks 23 and 29, both from the greater Helsinki area, and cord blood from 96 consecutive liveborn deliveries at the Department of Obstetrics and Gynecology, the University of Helsinki, were studied for antibodies to C. trachomatis immunotypes CJHI, GFK and BED by microimmunofluorescence test. The prevalence of C. trachomatis antibodies was highest, 33.3%, in mothers with stillbirth, 18.8% in mothers with preterm delivery, and 10.4% in cord blood. The IgM seropositivity rate was high among mothers with preterm delivery (8.3%). We conclude that C. trachomatis IgG antibodies are frequently detected in sera from mothers with stillbirth, suggesting past infection, while mothers with preterm delivery often have serum IgM antibodies, suggesting of acute infection.
Progressive myoclonus epilepsy of Univerricht-Lundborg type is a clinically defined entity among the progressive myoclonus epilepsies. It is an autosomal recessive disorder. The underlying biochemical defect is unknown. We used linkage analysis to localize the gene in 12 families with the aid of polymorphic DNA markers. Close linkage was detected with three markers on distal chromosome 21. The loci BCEI and D21S154 gave the highest positive logarithm-of-odds (lod) scores of 5.49 and 4.25, respectively, at zero recombination. The third locus, D21S112, gave a lod score of 6.91 at a recombination fraction of 0.034. There was no evidence of heterogeneity. Multipoint lod scores calculated against a fixed map of the three marker loci gave a maximum four-point lod score of 10.08 at a location of the disease gene at 6.0 centimorgans distal to locus BCEI and 0.8 centimorgan proximal to locus D21S154. As markers BCEI and D21S154 have previously been localized to 21q22.3 by physical methods, our findings place the EMP1 gene locus (for progressive myoclonus epilepsy of the Unverricht-Lundborg type) in chromosome 21 band q22.3. This finding provides an opportunity to test several other epilepsy phenotypes, particularly the so-called Ramsay Hunt syndrome, for linkage to the same locus. It also is a starting point toward isolating and characterizing the gene and its protein product.
Primary HHV-6 infection could be diagnosed by enzyme immunoassay from a single serum using IgG avidity test based on results obtained from 43 patients, 26 with seroconversion and 17 with variable antibody levels. The avidity was less than 30% in all patients with seroconversion. HHV-6 IgM appeared non-specific.
The clinical picture and the progression of the disease in 93 cases of progressive myoclonus epilepsy in Finland were analysed. The disease was familial in 25 out of 67 families. The incidence was calculated to be one in 27000 live-born children, i.e. three new cases each year. The early development and health of the patients was normaI. The first obvious symptom of the disease occurring at the age of 6 to 15 years was either myoclonus or grand mal seizures, the other following later. The characteristic clinical picture also included ataxia, intention tremor, dysarthria as well as emotional lability, but only a slight decrease in the intelligence level. Raised arterial pressure was seen in 14 per cent of cases. Symptoms from other organs were generally lacking. Resistance to infectious diseases seemed to be lower than normally. The thickness of the skull was increased but other disturbances of hone were not found. The pneumoencephalograms did not show any clear atrophy of the brain. The most essential feature of the disease was myoclonus which was provoked by light, touch and other stimuli and it was an important sign for the diagnosis. The increase of myoclonus finally made the patient unable to move unaided and to take care of himself and rendered him bedridden and helpless, most frequently at the age of 17 to 18 years. The average age at death was 24 years, about 14 years after the appearance of the first symptoms. In some patients the progress of the disease came to a halt after many years and these patients sometimes lived for up to 20–30 years after the beginning of the disease. A thorough neuropathological examination was made in one case and in five other cases some autopsy specimens from the brain were examined. Biopsy specimens from other tissues such as peripheral nerves, liver and muscle were examined in 26 cases. The most outstanding feature of the brain was loss of Purkinje cells. No Lafora bodies were found and no other signs of pathological accumulating material. Thus the Finnish cases of progressive myoclonus epilepsy do not belong to the Lafora body type of the disease. Clinically they differ from this type mainly on the basis of the fairly high intelligence level.
