Search

Introduction: The Unified Dyskinesia Rating Scale (UDysRS) was developed to provide a comprehensive rating tool of dyskinesia in Parkinson's disease (PD). Because dyskinesia therapy trials involve multicenter studies, having a scale that is validated in multiple non-English languages is pivotal to international efforts to treat dyskinesia. The aim of the present study was to organize and perform an independent validation of the UDysRS Finnish version., Methods: The UDysRS was translated into Finnish and then back-translated into English using 2 independent teams. Cognitive pretesting was conducted on the Finnish version and required modifications to the structure or wording of the translation. The final Finnish version was administered to 250 PD patients whose native language is Finnish. The data were analyzed to assess the confirmatory factor structure to the Spanish UDysRS (the reference standard). Secondary analyses included an exploratory factor analysis (EFA), independent of the reference standard., Results: The comparative fit index (CFI), in comparison with the reference standard factor structure, was 0.963 for Finnish. In the EFA, where variability from sample to sample is expected, isolated item differences of factor structure were found between the Finnish and Reference Standard versions of the UDysRS. These subtle differences may relate to differences in sample composition or variations in disease status., Conclusion: The overall factor structure of the Finnish version was consistent with that of the reference standard, and it can be designated as the official version of the UDysRS for Finnish speaking populations., (© 2021 S. Karger AG, Basel.)

Introduction: Variation contributing to the risk of Parkinson's disease (PD) has been identified in several genes and at several loci including GBA, SMPD1, LRRK2, POLG1, CHCHD10 and MAPT, but the frequencies of risk variants seem to vary according to ethnic background. Our aim was to analyze how variation in these genes contributes to PD in the Finnish population., Methods: The subjects consisted of 527 Finnish patients with early-onset PD, 325 patients with late-onset PD and 403 population controls. We screened for known genetic risk variants in GBA, SMPD1, LRRK2, POLG1, CHCHD10 and MAPT. In addition, DNA from 225 patients with early-onset Parkinson's disease was subjected to whole exome sequencing (WES)., Results: We detected a significant difference in the length variation of the CAG repeat in POLG1 between patients with early-onset PD compared to controls. The p.N370S and p.L444P variants in GBA contributed to a relative risk of 3.8 in early-onset PD and 2.5 in late-onset PD. WES revealed five variants in LRRK2 and SMPD1 that were found in the patients but not in the Finnish ExAC sequences. These are possible risk variants that require further confirmation. The p.G2019S variant in LRRK2, common in North African Arabs and Ashkenazi Jews, was not detected in any of the 849 PD patients., Conclusions: The POLG1 CAG repeat length variation and the GBA p.L444P variant are associated with PD in the Finnish population., (Copyright © 2017 Elsevier Ltd. All rights reserved.)

Mutations in SNCA are rare causes of familial Parkinson's disease (PD). We have previously described a novel p.Ala53Glu mutation in 2 Finnish families. To assess this mutation's frequency among Finnish PD patients, we screened 110 PD patients (mean age-of-onset 60 years) from Western Finland by Sanger sequencing of the third coding exon of SNCA. In addition, a sample of 47 PD subjects (mean age-of-onset 53 years) originating from Southern and Eastern Finland were studied using next-generation sequencing covering SNCA. Only one new individual with the p.Ala53Glu mutation was identified, confirming that this mutation is a rare cause of PD in the Finnish population. To search for a possible common origin of the p.Ala53Glu mutation, haplotype analysis was conducted in 2 families and in a patient from a third family (6 affected subjects) using both STR markers and a genome-wide SNP array. The results show that patients with the p.Ala53Glu mutation share a haplotype spanning a minimum of 5.7 Mb suggesting a common founder., (Copyright © 2016 Elsevier Inc. All rights reserved.)

Objective: The aim was to identify chromosomal regions possibly involved in the development of orofacial clefts and to compare syndromic cleft phenotypes with previous reports., Design: We have retrospectively gathered and analyzed chromosomal aberrations and phenotypes of Finnish cleft patients treated at the Cleft and Craniofacial Centre, Helsinki University Central Hospital., Setting: The study was carried out at the Cleft and Craniofacial Centre, Helsinki University Central Hospital., Patients: The cleft register contains information on about 7600 Finnish cleft patients., Main Outcome Measures: Identification of patients for further molecular analyses and identification of chromosomal regions associated with orofacial clefting., Results: We identified 37 cleft patients with chromosomal aberrations of putative research interest., Conclusions: We were able to efficiently select patients for further molecular analyses and identify chromosomal regions that might be associated with orofacial clefting. The percentage of submucous cleft patients among cleft patients with chromosomal aberrations was unexpectedly high.

In Finland about 120 babies are born with cleft lip and palate per year. The largest group is those with isolated cleft palate (60%) and only one fourth have complete cleft lip and palate. The clefts are closed under one year of age. Clefts affect appearance, occlusion and speech and the final outcome can only be assessed at the end of the growth. Centralisation of services and a multidisciplinary team approach has a bigger influence on the final outcome than different treatment protocols, the comparative advantages of which remain unproven. Good documentation is important to assess the level of treatment outcomes.

Microtia can be defined as a malformation of the auricle with varying severity. In the majority of patients it is combined with atresia or stenosis of the external auditory canal. The prevalence of microtia in Finland is approx. 4 out of 10000. Associated anomalies should be actively seeked and excluded. Approximately 70% of the patients seem to be non-syndromatic. Patients with microtia are known to more than usual have other structural abnormalities. With the exception of the mildest cases, the development of facial structure and dental occlusion should be monitored in all microtia patients, attempting to actively exclude any associated diseases.

Objective: To study the inheritance of microtia in the Finnish population, identify families for genetic linkage analyses and compare the phenotype between sporadic and familial patients., Methods: Retrospective case series and patient questionnaire of 109 microtia patients referred for reconstruction of the earlobe to the Helsinki University Central Hospital during the years 1980-2005., Results: 22 out of the 109 patients had a relative with microtia or preauricular tag. The familial and sporadic patients did not differ in microtia phenotype or sex distribution. Urinary system anomalies were statistically more prevalent in familial patients (p<0.01). The analyses of the birthplace of parents or grandparents of familial or sporadic microtia patients resulted in no evidence for founder effect., Conclusions: The prevalence of familial microtia/OAVS in the Finnish population is higher than 20%. The sporadic and familial microtia/OAVS patients do not differ in the phenotype or sex distribution. The mode of inheritance seems to be autosomal dominant with incomplete penetrance.

We investigated the prevalence of mutations in the PHD finger protein 8 (PHF8) gene in X-linked mental retardation (XLMR) and facial cleft starting from the original cohort of 7712 patients operated on since 1 January 1950 for cleft lip/cleft palate in the Cleft Centre at the Helsinki University Hospital. From this nationwide material, 18 patients including one family with two male patients with cleft lip/cleft palate and unknown cause of mental retardation (MR) were sequenced for the coding regions and splice sites of the PHF8 gene. A novel missense mutation c.836C>T of the PHF8 gene was identified in a Finnish family with multiple-affected male patients. The mutation resides in exon 8 and changes phenylalanine to serine (F279S) in the functionally important Jmonji C domain of the protein. The clinical phenotype of the male patients was characterized by mild MR, mild dysmorphic features, unilateral cleft lip and cleft palate in one and bilateral cleft lip and cleft palate in the other sibling. The mutation was not present in 200 anonymous blood donors (approximately 300 X-chromosomes). To our knowledge, F279S is the third mutation of the PHF8 gene identified so far.

Objective: To compare the characteristics of microtia in Finland and in other populations., Methods: Retrospective case series and patient questionnaire of 190 microtia patients referred for reconstruction of the earlobe to the Helsinki University Central Hospital during the years 1980-2005., Results: The prevalence in Finland is 4.34/10,000 and varied in other populations from 0.83 to 17.4/10,000. Microtia is seen more in males (58%), as unilateral (88.4%), right-sided (59.5%) and it is almost always associated with aural atresia or stenosis (93%). There is conductive hearing loss in 96% and sensorineural hearing loss in 8% of the affected ears. 11% of the patients had congenital heart defects, and 5% had anomalies of extremities., Conclusions: There is variation in the prevalence and characteristics of microtia in different populations.