Publications (19) View all
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Article: A visual migraine aura locus maps to 9q21-q22.
P Tikka-Kleemola, V Artto, S Vepsäläinen, E M Sobel, S Räty, M A Kaunisto, V Anttila, E Hämäläinen, M-L Sumelahti, M Ilmavirta, M Färkkilä, M Kallela, A Palotie, M Wessman[show abstract] [hide abstract]
ABSTRACT: To identify susceptibility loci for visual migraine aura in migraine families primarily affected with scintillating scotoma type of aura. We included Finnish migraine families with at least 2 affected family members with scintillating scotoma as defined by the International Criteria for Headache Disorders-II. A total of 36 multigenerational families containing 351 individuals were included, 185 of whom have visual aura and 159 have scintillating scotoma. Parametric and nonparametric linkage analyses were performed with 378 microsatellite markers. The most promising linkage loci found were fine-mapped with additional microsatellite markers. A novel locus on chromosome 9q22-q31 for migraine aura was identified (HLOD = 4.7 at 104 cM). Fine-mapping identified a shared haplotype segment of 12 cM (9.8 Mb) on 9q21-q22 among the aura affected. Four other loci showed linkage to aura: a locus on 12p13 showed significant evidence of linkage, and suggestive evidence of linkage was detected to loci on chromosomes 5q13, 6q25, and 13q14. A novel visual migraine aura locus has been mapped to chromosome 9q21-q22. Interestingly, this region has previously been linked to occipitotemporal lobe epilepsy with prominent visual symptoms. Our finding further supports a shared genetic background in migraine and epilepsy and suggests that susceptibility variant(s) to visual aura for both of these traits are located in the 9q21-q22 locus.Neurology 04/2010; 74(15):1171-7. · 8.31 Impact Factor -
Article: Prescription patterns in preventive and abortive migraine medication.
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ABSTRACT: Migraine is considered a common but under-diagnosed and untreated condition. Treatment patterns have pointed at frequent over-the-counter medication use and low use of preventive therapies. Studies exploring migraine prescription practice among doctors are few. A population-based study was carried out to examine the prescription practice in the use of acute and preventive migraine medications. The data covered 4864 working-age people reporting they have been diagnosed with migraine. Data on reimbursed prescription medicines from 1 January 1998 to 31 December 2006 were drawn from the registers of the Social Insurance Institute of Finland and compared with age- and sex-matched controls. Anti-inflammatory analgesics were prescribed for 71% of female and 62% of male migraine patients vs. 56% and 50% of controls. Triptans were prescribed for 21% of female and 10% of male patients. Combinations of analgesics and muscle relaxants were offered to 37% of female and 29% of male patients vs. 26% and 21% of controls, and antidepressants to 19% of women and 14% of men vs. 13% and 9% of controls. Although use of preventive medication among migraineurs was high, the prescription patterns in acute treatments showed that NSAIDS were used more often than triptans. Assimilation of national guidelines to treat migraine published in 2002 in Finland was not reflected in the prescription patterns up to 2006.Cephalalgia 11/2011; 31(16):1659-63. · 3.43 Impact Factor -
Article: Causes of death among patients with multiple sclerosis.
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ABSTRACT: Several studies show a high mortality risk among patients with multiple sclerosis (MS). In this study, mortality and underlying causes of death were analysed among patients with MS diagnosed between 1964-1993 in Finland (n = 1595). Standardized mortality ratios (SMRs) were calculated for both genders. The follow-up was based on linkage to the national computerized Cause-of-Death Register of Statistics Finland. Altogether, 464 deaths were recorded by the end of 2006. The SMR as compared with the general population among females was 3.4 (95% confidence interval 3.0-3.9) and among males 2.2 (1.9-2.6). In total, 270 patients (58%) died from MS; only one of these deaths occurred during the first 2 years after the MS diagnosis. Mortality was also increased for other natural causes of death (n = 160) in patients followed for more than 10 years (SMR 1.4, 1.2-1.7), with a significant increase in deaths from influenza (29, 6.0-85), pneumonia (4.7, 2.5-8.0) and gastrointestinal causes (4.4, 2.3-7.7). The SMR for violent causes was 1.2 (0.7-1.9) and for alcohol-related deaths 0.2 (0.02-0.7). The SMR for suicides was 1.7 (0.9-2.7). The MS population has an increased disease mortality, while the increase in the risk of accidents and suicides is not significantly increased among patients with MS in Finland.Multiple Sclerosis 12/2010; 16(12):1437-42. · 4.26 Impact Factor -
Article: Genome-wide association study in a high-risk isolate for multiple sclerosis reveals associated variants in STAT3 gene.
Eveliina Jakkula, Virpi Leppä, Anna-Maija Sulonen, Teppo Varilo, Suvi Kallio, Anu Kemppinen, Shaun Purcell, Keijo Koivisto, Pentti Tienari, Marja-Liisa Sumelahti, [......], Daniel B Mirel, Stephen L Hauser, Ludwig Kappos, Chris Polman, Philip L De Jager, David A Hafler, Mark J Daly, Aarno Palotie, Janna Saarela, Leena Peltonen[show abstract] [hide abstract]
ABSTRACT: Genetic risk for multiple sclerosis (MS) is thought to involve both common and rare risk alleles. Recent GWAS and subsequent meta-analysis have established the critical role of the HLA locus and identified new common variants associated to MS. These variants have small odds ratios (ORs) and explain only a fraction of the genetic risk. To expose potentially rare, high-impact alleles, we conducted a GWAS of 68 distantly related cases and 136 controls from a high-risk internal isolate of Finland with increased prevalence and familial occurrence of MS. The top 27 loci with p < 10(-4) were tested in 711 cases and 1029 controls from Finland, and the top two findings were validated in 3859 cases and 9110 controls from more heterogeneous populations. SNP (rs744166) within the STAT3 gene was associated to MS (p = 2.75 x 10(-10), OR 0.87, confidence interval 0.83-0.91). The protective haplotype for MS in STAT3 is a risk allele for Crohn disease, implying that STAT3 represents a shared risk locus for at least two autoimmune diseases. This study also demonstrates the potential of special isolated populations in search for variants contributing to complex traits.The American Journal of Human Genetics 02/2010; 86(2):285-91. · 10.60 Impact Factor -
Article: Occurrence of multiple sclerosis in central Finland: a regional and temporal comparison during 30 years.
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ABSTRACT: We estimated the prevalence and incidence of multiple sclerosis (MS) in central Finland up to 2000. Rates were compared with those in other areas in Finland. MS cases were identified in the hospital registry by ICD codes for demyelinating diseases from 1979 to 2000. Cases with definite MS were included. Incidence and prevalence were calculated with 95% CI and standardization was performed using direct method. In 1993 prevalence was 59/10(5) (n = 153). Incidence in 1979-93 was 3.8/10(5) person-years (n = 126). Rates are similar to average in areas with known rates of MS in Finland but substantially less than the over twofold MS risk in the neighbouring district Seinajoki. Extended follow-up to 2000 in central Finland showed increasing prevalence up to 105/10(5) (n = 277) and a significant increase in incidence 1994-98 up to 9.2/10(5) (n = 105). At the same time the diagnostic use of MRI increased up to 97%. Central Finland represents an average risk area of MS when compared with other areas of Finland but still a high risk in global comparison. The recent rapid increase in both prevalence and incidence is largely accounted for by increased use of MRI.Acta Neurologica Scandinavica 12/2004; 110(5):331-6. · 2.47 Impact Factor