Myoclonus Epilepsy (Unverricht-Lundborg) in Finland

Harenko, A; Toivakka, E.

doi:10.1111/j.1600-0404.1961.tb01068.x

Cited by 31 publications

(7 citation statements)

References 6 publications

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“…Similar to previous reports, the disease appeared to be slightly more common in the eastern parts of the country. 5 – 7 Also in agreement with previous reports from Finland, 2 the disease was associated with dodecamer expansion in nearly all patients for whom data were available in our study, and the proportion of compound heterozygotes was low (8%).…”

Section: Discussionsupporting

confidence: 93%

“…The average age at onset of around 10 years and the fact that onset nearly always occurred between 6 and 16 years of age in our study concurs with previously published results from Finland. 2 , 5 – 7 These findings are slightly lower than the 12.3 years 11 and 11.7 years 3 reported in Italy and the 11.0 years 4 observed in the Netherlands. Notably, all Italian patients in both of these studies were genetically verified, whereas in a quarter of the patients in the current study genetic verification was not recorded.…”

Section: Discussionmentioning

confidence: 64%

“… 5 However, the only estimates of its prevalence in the country (0.71/100,000 persons in the 1950s and 1.14/100,000 persons in 1972) are outdated and are not based on nationwide, systematically collected data. 6 , 7…”

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confidence: 99%

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Unverricht-Lundborg disease (EPM1) in Finland

et al. 2020

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Objective:To investigate the epidemiology and prognosis of Unverricht–Lundborg disease (EPM1) in a nationwide, population-based setting.Methods:Data from multiple registries were combined and analyzed. Clinical data was obtained from medical records. All patients treated for EPM1 in Finland between January 1, 1998 and December 31, 2016 were included.Results:135 persons with EPM1 (54 % women) were identified and 105 were alive on 31 December 2016 (point prevalence 1.91/100,000 persons). The age-standardised (European Standard Population 2013) prevalence was 1.53/100,000 persons. Annual incidence during the study period was 0.022/100,000 person-years, with a mean age of onset of 9.4 ± 2.3 years (range 7.0–14.6 years, no gender difference). The median age of death (N=34) was 53.9 (interquartile range 46.4, 60.3; range 23.2–63.8) years, with no gender differences. The immediate cause of death had been a lower respiratory tract infection in 56% of deaths. The survival rates of the patients were comparable to matched controls up to 40 years of age, but poorer during long-term follow-up (cumulative survival 26.4% vs. 78.0%), with a hazard ratio for death of 4.61. The risk of death decreased with increasing age of onset (HR 0.76 per year, 95% CI 0.65-0.89). In approximately 10% of all cases, the disease progression appeared very mild; some patients retained functional independence for decades.Conclusions:Unverricht–Lundborg disease is rare in Finland but still more common than anywhere else in the world. The disease course appears somewhat more severe than elsewhere, disability mounts early and death occurs prematurely.

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Section: Discussionsupporting

confidence: 93%

Section: Discussionmentioning

confidence: 64%

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Unverricht-Lundborg disease (EPM1) in Finland

et al. 2020

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“…The basic family series comprised 67 Finnish families with evident PME in one or more sibs. The index cases were all PME patients known by 1973 Harenko & Toivakka (1961). During the study, five new families (six patients) were found by perusing the records of the neuropsychiatric hospitals for the south-eastern part of Finland and two through the family histories of the basic patients.…”

Section: Methodsmentioning

confidence: 99%

Progressive myoclonus epilepsy: genetic and nosological aspects with special reference to 107 Finnish patients

1979

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In 107 Finnish patients with progressive myoclonus epilepsy (PME), belonging to 74 families, autosomal recessive inheritance was evident. The sex ratio was 48:51, the corrected proportion of affected sibs being 0.260. Of 68 marriages 15, or 22 %, were consanguineous; several of the parents were related and the geographical distribution was of the uneven type typical of young, isolated populations in Finland. The incidence in Finland was estimated to exceed 1:20,000. The clinical picture in the Finnish PME patients was uniform, being identical with that of Unverricht's and Lundborg's patients, but clearly distinct from Lafora disease. The following classification of PME is proposed: (1) PME, Lafora type: onset of grand mal attacks and/or myoclonus around the 15th year of life; rapid and severe mental deterioration, often with psychotic symptoms; short survival; histological finding of Lafora bodies; autosomal recessive inheritance. (2) PME, Unverricht‐Lundborg type: onset around the 10th year of life; severity variable, progressive invalidity from myoclonic features associated with mild mental symptoms, time of survival variable, “degenerative” histological changes; autosomal recessive inheritance. (3) Autosomal dominant or otherwise atypical cases of PME. The importance of accurate diagnosis is stressed.

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“…Previous studies on the natural history, clinical progression and response to drug treatment in ULD have largely been carried out before genetic confirmation of ULD was available 3–5, 10–12. We have therefore performed a retrospective study of eight genetically proven cases of ULD, with the aim of reassessing the clinical characteristics and natural history of ULD.…”

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confidence: 99%

The natural history of Unverricht‐Lundborg disease: A report of eight genetically proven cases

et al. 2008

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Abstract:We report eight cases of genetically proven ULD, with the aim of reassessing the clinical characteristics and natural history of ULD in genetically characterized patients. The eight patients had their first symptoms at mean age of 10.6 years (range: 6 -14 years). The main clinical features were action myoclonus, cerebellar ataxia, seizures, and mild intellectual dysfunction. We report three new clinical features of ULD; ocular motor apraxia, dystonia, and rapidly progressive dementia. All patients needed a combination of at least four antimyoclonic drugs, but despite this, all patients were severely disabled by their action myoclonus. After a mean duration of disease of 29.9 years (range: 21-37 years), four patients were walking with aids while another four were wheelchair bound. The clinical phenotypes associated with ULD are more diverse than previously recognized and even though the long term functional outcome and survival have improved, the overall efficacy of antimyoclonic drugs remains unsatisfactory.

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Myoclonus Epilepsy (Unverricht-Lundborg) in Finland

Cited by 31 publications

References 6 publications

Unverricht-Lundborg disease (EPM1) in Finland

Unverricht-Lundborg disease (EPM1) in Finland

Progressive myoclonus epilepsy: genetic and nosological aspects with special reference to 107 Finnish patients

The natural history of Unverricht‐Lundborg disease: A report of eight genetically proven cases

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