Discrepancy in prevalence of Huntington's disease in two Swedish regions

Roos, Anna-Karin; Wiklund, Lars; Laurell, Katarina

doi:10.1111/ane.12762

Cited by 11 publications

(15 citation statements)

References 21 publications

(55 reference statements)

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“…The median age of onset (45 years) was close to the European Huntington's Disease Network's estimates for Central Europe (47 years) but it was lower than those of Northern (50 years) or Southern Europe (49 years) as well as that of United Kingdom (49 years) (4,6,11).…”

Section: Discussionsupporting

confidence: 61%

“…Huntington's disease (HD) is a hereditary neurodegenerative disorder characterised by choreiform movements, cognitive dysfunction, behaviour and mood problems (1)(2)(3)(4). The worldwide prevalence of HD is estimated to be 2.71/100.000, with a signi cantly higher prevalence (5.7/100.000) and incidence (0.11-0.8/100.000) in Europe and North America compared to Asian populations (prevalence: 0.4/100.000, incidence: 0.046-0.16/100.000) (2,5).…”

Section: Introductionmentioning

confidence: 99%

“…The worldwide prevalence of HD is estimated to be 2.71/100.000, with a signi cantly higher prevalence (5.7/100.000) and incidence (0.11-0.8/100.000) in Europe and North America compared to Asian populations (prevalence: 0.4/100.000, incidence: 0.046-0.16/100.000) (2,5). The age of disease onset is widely variable, the average is estimated to be between 30-50 years (1,3,4,6,7), but it can occur during early childhood as well as above 60 years (3,4,8). Cases where the disease manifests itself before the age of 20 are called juvenile type HD, whereas cases presenting symptoms after the age of 60 are termed late onset HD (8)(9)(10)(11).…”

Section: Introductionmentioning

confidence: 99%

“…In some cases, however, the presence of these alleles have been associated with subtle HD-like symptoms (16,18). If the expansion exceeds 35 repeats, it becomes pathogenic, with the range 36-39 showing decreased penetrance, and a length of 40 or longer showing full penetrance (3,4,8). The age of onset and the CAG repeat length of the pathological allele is known to have a strong inverse correlation, though it is widely debated in literature whether repeat length by itself can be used to accurately predict disease onset and duration (3,19).…”

Section: Introductionmentioning

confidence: 99%

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Epidemiologic characteristics of a Hungarian subpopulation of Huntington’s Disease patients

Despotov

Zádori

Veres

et al. 2020

Preprint

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Background: recent advances in the therapeutic options may prevent deterioration related to Huntington’s disease (HD) even at the presymptomatic stage. However, a well-characterized patient population is essential for screening and outcome monitoring as well. Accordingly, the aim of this study was to describe the characteristics of a Hungarian subpopulation of HD patients and mutation carriers diagnosed at the University of Szeged.Methods: we conducted a search for International Classification of Diseases (ICD) code G10H0 in the local medical database for the period between 1 January 1998 and 31 December 2018.Results: we identified 90 HD cases (male: 45, female: 45) and 34 asymptomatic carriers (male: 15, female: 19). The median age of onset was 45 years (range: 16-79). There were 3 cases of juvenile (3.3%), and 7 of late disease onset (7.8%). The median repeat length was 43 (range: 36-70) for the pathological and 19 for the non-pathological alleles (range: 9-35). 17.5% of the pathological alleles was in the decreased penetrance range, while 7% of non-pathological alleles was intermediate.Conclusions: the genetic and clinical features of the population examined in present study was in line with the previous Hungarian study as well as with international literature, the exceptions being the higher ratio of reduced penetrance and intermediate alleles.

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Section: Discussionsupporting

confidence: 61%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Epidemiologic characteristics of a Hungarian subpopulation of Huntington’s Disease patients

Despotov

Zádori

Veres

et al. 2020

Preprint

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“…6 Among whites, the Finns and Icelanders have low prevalence, whereas the prevalence rates in other Scandinavian countries are similar to those in other whites. 7,8…”

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confidence: 99%

HTT haplogroups in Finnish patients with Huntington disease

et al. 2019

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ObjectiveTo study genetic causes of the low frequency of Huntington disease (HD) in the Finnish population, we determined HTT haplogroups in the population and patients with HD and analyzed intergenerational Cytosine-Adenosine-Guanosine (CAG) stability.MethodsA national cohort of patients with HD was used to identify families with mutant HTT (mHTT). HTT haplogroups were determined in 225 archival samples from patients and from 292 population samples. CAG repeats were phased with HTT haplotypes using data from parent-offspring pairs and other mHTT carriers in the family.ResultsThe allele frequencies of HTT haplotypes in the Finnish population differed from those in 411 non-Finnish European subjects (p < 0.00001). The frequency of haplogroup A was lower than that in Europeans and haplogroup C was higher. Haplogroup A alleles were significantly more common in patients than in controls. Among patients with HD haplotypes A1 and A2 were more frequent than among the controls (p = 0.003). The mean size of the CAG repeat change was +1.38 units in paternal transmissions being larger than that (−0.17) in maternal transmissions (p = 0.008). CAG repeats on haplogroup A increased by 3.18 CAG units in paternal transmissions, but only by 0.11 units in maternal transmissions (p = 0.008), whereas haplogroup C repeat lengths decreased in both paternal and maternal transmissions.ConclusionsThe low frequency of HD in Finland is partly explained by the low frequency of the HD-associated haplogroup A in the Finnish population. There were remarkable differences in intergenerational CAG repeat dynamics that depended on HTT haplotype and parent gender.

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Prevalence and Incidence of Huntington's Disease: An Updated Systematic Review and Meta‐Analysis

et al. 2022

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The incidence and prevalence of Huntington's disease (HD) based on a systematic review and meta‐analysis of 20 studies published from 1985 to 2010 was estimated at 0.38 per 100,000 person‐years (95% confidence interval [CI], 0.16–0.94) and 2.71 per 100,000 persons (95% CI, 1.55–4.72), respectively. Since 2010, there have been many new epidemiological studies of HD. We sought to update the global estimates of HD incidence and prevalence using data published up to February 2022 and perform additional analyses based on study continent. Medline and Embase were searched for epidemiological studies of HD published between 2010 and 2022. Risk of bias was assessed using a quality assessment tool. Estimated pooled prevalence or incidence was calculated using a random‐effects meta‐analysis. A total of 33 studies published between 2010 and 2022 were included. Pooled incidence was 0.48 cases per 100,000 person‐years (95% CI, 0.33–0.63). Subgroup analysis by continent demonstrated a significantly higher incidence of HD in Europe and North America than in Asia. Pooled prevalence was 4.88 per 100,000 (95% CI, 3.38–7.06). Subanalyses by continent demonstrated that the prevalence of HD was significantly higher in Europe and North America than in Africa. The minor increase in prevalence (more so than incidence) demonstrated in this updated review could relate to the enhanced availability of molecular testing, earlier diagnosis, increased life expectancy, and de novo mutations. Limitations include variable case ascertainment methods and lacking case validation data. © 2022 Her Majesty the Queen in Right of Canada. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society. Reproduced with the permission of the Minister of Public Health Agency of Canada.

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Discrepancy in prevalence of Huntington's disease in two Swedish regions

Cited by 11 publications

References 21 publications

Epidemiologic characteristics of a Hungarian subpopulation of Huntington’s Disease patients

Epidemiologic characteristics of a Hungarian subpopulation of Huntington’s Disease patients

HTT haplogroups in Finnish patients with Huntington disease

Prevalence and Incidence of Huntington's Disease: An Updated Systematic Review and Meta‐Analysis

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