Computerized movement analysis and beta-CIT-SPECT in patients with restless legs syndrome.

Considering the positive effect of dopaminergic treatment on Restless Legs Syndrome (RLS), it has been suggested that the cause of RLS may be linked to central dopaminergic dysfunction. As problems of alternating movements can result from a failure in the dopaminergic system, we used a movement analysis system to analyse this and in-parallel, performed [123I]beta-CIT-SPECT to investigate signs of dopaminergic dysfunction in patients with RLS. In 10 patients with idiopathic RLS, we conducted a three-dimensional computerized ultrasound-based movement analysis before a single dose of levodopa (L-dopa) was given and 90 minutes after the L-dopa challenge. In 6 of the 10 RLS patients, the striatal dopamine transporter system was studied with [123I]beta-CIT-SPECT. We did not observe any significant change in the movement pattern with the computerized movement analysis and no significant effect of L-dopa on the movement. We did not detect any significant differences between patients and normal controls regarding beta-CIT-signals in putamen or caudate nucleus, respectively. There was, however, a slight but significant change regarding the relative [123I]beta-CIT-SPECT binding in the putamen vs. the caudate nucleus. We conclude that the methods used could not detect any definite signs of changed central dopaminergic function in patients with RLS.

Three-dimensional computerized analysis of diadochokinetic movements of Parkinsonian patients.

OBJECTIVES: Considering the rapid appearance of new pharmaceutical and surgical treatments for Parkinson's disease, a development of quantitative and objective methods for measuring treatment effects is highly warranted. The purpose of this study was to investigate the usability of a computerized movement analysis system in Parkinson's disease patients. MATERIAL AND METHODS: We analysed the effect of L-dopa in a group of 14 patients with idiopathic Parkinson's disease and compared the results to those of 14 control persons. The results were compared to those achieved with the UPDRS, Hoehn & Yahr and Schwab & England Scales, as well as, to time-measured manual testing according to the CAPIT and CAPSIT-PD protocols. RESULTS: We found that the computerized analysis results correlated well with the findings obtained with traditional scales and manual techniques, and that the computer-analysis had the advantage of delivering more exact and quantitative information not only concerning movement speed but also aspects of movement quality. CONCLUSION: We conclude that this form of computerized movement analysis can have an important role in evaluating the effect of treatments, individualizing the therapy, as well as, for diagnostic procedures in patients with Parkinson symptomatology.

Restless legs syndrome.

Restless legs syndrome (RLS), first described in 1672 and given its name in 1945, is one of the most common sleep and movement disorders. Modern population-based studies demonstrate a prevalence between 5% and 15% in adult white populations. According to the diagnostic criteria, RLS is defined as an irresistable desire to move limbs, usually associated with paresthesias/dysesthesias and motor restlessness. The symptoms start or worsen at rest and improve with activity. Additionally, the symptoms worsen in the evenings and/or nights, which often results in disturbance of sleep with daytime tiredness. There is often a family history of RLS. Initially, the disease course is usually fluctuating and later may become continuous or chronic-progressive. The diagnosis is based on the patient history and is supported by a normal neurological examination. RLS is confirmed by the finding of periodic limb movements (PLM) in polysomnographic investigations and by a response to dopaminergic medication. A large number of studies have confirmed the effect of levodopa (L-dopa) in the treatment of RLS. A majority of the patients treated over a longer period of time with L-dopa, however, develop problems with an effect called augmentation, where the RLS symptoms begin appearing earlier during the day and involve new parts of the body with increasing severity. A large number of studies have now confirmed that dopamine agonists can also be effective in RLS therapy, and that this treatment seems to involve less risk for augmentation. This paper provides a general review of RLS with a focus on current treatment options.

Extreme, unilateral widening of Virchow-Robin spaces: case report.

We report a case of extreme, largely unilateral dilatation of Virchow-Robin spaces. Fluid-attenuated inversion-recovery images revealed high-signal foci adjacent to the dilated spaces, possibly due to chronic ischaemia.

Genetic analysis of HLA in psoriasis.

The results of HLA typing in the sample of 39 families were used for the evaluation of inheritance mode in psoriasis. To discriminate between autosomal dominant and autosomal recessive models of inheritance of "disease" genes Thompson's and Bodmer's method was applied. The distributions of genotypes with HLA-B13 or HLA-B17 did not allow to differentiate between dominant and recessive inheritance pattern. Also the comparison of observed and expected numbers of sib paris sharing two, one or no HLA haplotypes was considered. The attempts to confirm dominant and recessive model in our sample failed. However, the high values of chi-square were due only to the difference among sib pairs with no common HLA haplotypes.

Family studies in psoriasis. I. Complex segregation analysis.

The genetic background of psoriasis is unknown and its mode of inheritance is still controversial. Family studies in psoriasis were based on complex segregation analysis and a special computer programme was prepared. The results of the analysis in 244 families strongly suggest multifactorial inheritance of psoriasis vulgaris. Among the nine hypotheses of rank 1 and rank 2, the lowest value of chi-square, 72.847, was for recessive inheritance, but for the multifactorial model it was extremely low (chi-square = 35.980). The estimated heritability was 82%. It might be possible that at least two genetically distinct subpopulations of psoriasis vulgaris exist: one with multifactorial inheritance and a second with multigenic determination, if the disease were due to recessive genes and to one or more dominant factors. The theoretical recurrence risk of psoriasis for the multifactorial model was computed for families with normal parents and for families with one affected parent.

Family studies in psoriasis. II. Inheritance of HLA genotypes.

The study of HLA genotypes in psoriatic families attempts to probe into the genetic transmission of disease. A strong association of psoriasis with HLA antigens determined by locus B is well known, but its relationships are still unsolved. A group of 39 families, living in southern Poland and containing 19 affected parents and 52 psoriatic children, was studied. To discriminate between dominant and recessive modes of 'disease' genes inheritance, two tests were used. No significant differences were found between the observed and the expected distributions of genotypes with HLA-B 13 or HLA-B 17. The expected and the observed numbers of affected sib pairs sharing two, one or no HLA haplotypes were compatible with the proportions of 1/4, 1/2 and 1/4 in the case of independent segregation of psoriasis and HLA antigens. The results support the hypothesis of multifactorial determination of disease. The hypothetical inheritance of parental HLA haplotypes carrying 'psoriatic' genes in cis or trans positions was considered. Of nine possible combinations, two were shown graphically that resulted in offspring compatible with the observed pyenotypical expression of disease.

Lucus B HLA antigens in psoriatic patients. Population and family studies and clinical relationship.

The HLA gene and haplotype frequencies in psoriatic population (N = 136) and families (N = 47) were estimated. The significant association with HLA-B17 and B13 was found. The relative risk for these antigens was 4.4 and 2.4, respectively. The most frequent haplotypes carrying the "psoriatic" antigens was HLA-A1, B17 and HLA-A10, B17, with significant relative risk, equalled 8.24 and 5.75. The distribution of HLA-B13 and B17 phenotypes according to the three groups of clinical activity and four groups of extent of skin lesions were considered. The strong association between HLA-B17 and psoriasis with large skin involvement (more than 50%) was observed. The possible role of antigen B17 in pathomechanism of psoriasis is discussed.

HLA antigens in psoriasis.

In the group (N = 136) of psoriatic patients 27 HLA antigens determined by A and B loci were identified. Phenotype, gene and haplotype frequencies were calculated and compared with the control data. A significant association between psoriasis and HLA-B13 and/or HLA-B17 was confirmed. The relative risk for these antigens amounted to 2.3 and 4.4 respectively. Among all haplotypes calculated for the psoriatic population there were only six with significant relative risk ranging from 3.1 to 27.4. Unexpectedly, the highest relative risk (27.4) was found for haplotype HLA-A9, X.