Incidence and prevalence of Huntington disease (HD) in the Sultanate of Oman: the first Middle East post-
HTT
service-based study

Squitieri, Ferdinando; Maffi, Sabrina; Harasi, Salma Al; Salmi, Qasem Al; D’Alessio, Barbara; Capelli, Giovanni; Mazza, Tommaso

doi:10.1136/jnnp-2020-323241

Cited by 6 publications

(9 citation statements)

References 5 publications

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“…6 Although as in our study, the JoHD prevalence among HD cohorts is commonly reported to be 6% in reference texts, 7 higher rates have also been reported in isolated cohorts, such as the Omani HD population. 4 There is no other clinic offering genetic testing or comprehensive care for HD in Peru, so referral bias affecting our result should be limited. However, not all patients, particularly those from regions far away from Lima or the Cañete valley, would have the resources or ability to access medical care in Lima, and there could be increased motivation to access care for children as compared to older adults.…”

Section: Discussionmentioning

confidence: 95%

“…In Latin America, HD prevalence is estimated at 0.5–4 per 100,000 inhabitants, although among certain subpopulations, particularly those in Venezuela around Lake Maracaibo or in Peru around the Cañete valley, disease rates are over 10 times higher 2,3 . A cohort of 392 individuals representing four unrelated families in Oman had particularly high rates of HD with an early onset 4 . The typical age of onset for HD is between ages 30 and 50, though age of onset can vary widely, with documentation in the literature of initial onset ranging from early pediatric to old ages 5 .…”

Section: Study Population Subjects Male/female % Paternal Inheritance...mentioning

confidence: 99%

“…2,3 A cohort of 392 individuals representing four unrelated families in Oman had particularly high rates of HD with an early onset. 4 The typical age of onset for HD is between ages 30 and 50, though age of onset can vary widely, with documentation in the literature of initial onset ranging from early pediatric to old ages. 5 Presentation before age 21, historically referred to as Juvenile Huntington Disease (JHD), or more recently, Juvenile-onset Huntington's Disease (JoHD), accounts for approximately 6% of all global HD cases.…”

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confidence: 99%

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Juvenile‐Onset Huntington's Disease in Peru: A Case Series of 32 Patients

Vishnevetsky

Cornejo‐Olivas

Sarapura‐Castro

et al. 2022

Movement Disord Clin Pract

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Background Juvenile‐onset Huntington's Disease (JoHD) or Huntington's disease (HD) with age of onset ≤20 years, is a rare clinical entity that often differs phenotypically from adult HD and represents only 1–15% of total HD cases. Objective To characterize the genetic and clinical characteristics of 32 JoHD patients seen in a Peruvian Neurogenetics clinic from 2000–2018. Methods This study is a retrospective clinical and genetic review. The clinical database in Lima, Peru was searched for HD patients seen in clinic between 2000 and 2018. Inclusion criteria were: (1) genetically confirmed disease; and (2) HD age of onset ≤20 years, according to the documented medical history. Results Among 475 patients with genetically confirmed HD in the database, 32 patients (6.7%) had symptom onset at ≤20 years. Among JoHD patients with a known transmitting parent (30 of 32), paternal transmission accounted for 77% of cases. Anticipation was higher with paternal transmission compared to maternal transmission (27.5 ± 11.5 vs. 11.3 ± 7.1 years). Overall expanded CAG repeat length ranged from 44 to 110, with a mean length of 65.6 ± 15.4, and 14 (44%) cases had repeat length under 60. Of the 32 patients included in the study, 25 had detailed clinical symptomatology available, and many patients had unique clinical features such as prominent sleep disturbance (60% of patients), or parkinsonism (73%). Conclusions This large case series of JoHD patients characterizes the Peruvian JoHD population, reports on unique familial relationships in JoHD, and highlights the varied symptomatic presentation of this rare disease.

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Section: Discussionmentioning

confidence: 95%

Section: Study Population Subjects Male/female % Paternal Inheritance...mentioning

confidence: 99%

mentioning

confidence: 99%

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Juvenile‐Onset Huntington's Disease in Peru: A Case Series of 32 Patients

Vishnevetsky

Cornejo‐Olivas

Sarapura‐Castro

et al. 2022

Movement Disord Clin Pract

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“…There are limited published data on the incidence and prevalence of HD (unless otherwise stated, incidence and prevalence refer to diagnosed incidence and prevalence throughout this report). Data on the incidence of HD suggest that it is in the range of 0.1-0.7 per 100,000 people [2,[8][9][10][11][12][13][14][15][16][17][18][19]. Higher estimates are commonly derived from insurance claims data compared with other sources [20,21].…”

Section: Introductionmentioning

confidence: 99%

“…Higher estimates are commonly derived from insurance claims data compared with other sources [20,21]. Available data suggest that the prevalence of HD is approximately 10 cases per 100,000 people, with higher prevalence in North America, Northwestern Europe, the Middle East, and Australia, where estimates range from 5.96 to 13.70 cases per 100,000 people [19,[22][23][24][25] than in Asia, where the prevalence is estimated at 0.41-0.70 cases per 100,000 people [26]. However, the real prevalence, including undiagnosed individ-uals, may be higher than these estimates for a variety of reasons [27].…”

Section: Introductionmentioning

confidence: 99%

Modeling Manifest Huntington’s Disease Prevalence Using Diagnosed Incidence and Survival Time

Crowell

Houghton

Tomar³

et al. 2021

Neuroepidemiology

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Introduction: Understanding the epidemiology of Huntington’s disease (HD) is key to assessing disease burden and the healthcare resources required to meet patients’ needs. We aimed to develop and validate a model to estimate the diagnosed prevalence of manifest HD by the Shoulson-Fahn stage. Methods: A literature review identified epidemiological data from Brazil, Canada, France, Germany, Italy, Spain, the UK, and the USA. Data on staging distribution at diagnosis, progression, and mortality were derived from Enroll-HD. Newly diagnosed patients with manifest HD were simulated by applying annual diagnosed incidence rates to the total population in each country, each year from 1950 onwards. The number of diagnosed prevalent patients from the previous year who remained in each stage was estimated in line with the probability of death or progression. Diagnosed prevalence in 2020 was estimated as the sum of simulated patients, from all the incident cohorts, still alive. Results: The model estimates that in 2020, there were 66,787 individuals diagnosed with HD in the 8 included countries, of whom 62–63% were in Shoulson-Fahn stages 1 and 2 (with less severely limited functional capacity than those in stages 3–5). Diagnosed prevalence is estimated to be 8.2–9.0 per 100,000 in the USA, Canada, and the 5 included European countries and 3.5 per 100,000 in Brazil. Conclusion: The modeled estimates generally accord with the previously published data. This analysis contributes to better understanding of the epidemiology of HD and highlights areas of uncertainty.

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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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Incidence and prevalence of Huntington disease (HD) in the Sultanate of Oman: the first Middle East post- HTT service-based study

Cited by 6 publications

References 5 publications

Juvenile‐Onset Huntington's Disease in Peru: A Case Series of 32 Patients

Juvenile‐Onset Huntington's Disease in Peru: A Case Series of 32 Patients

Modeling Manifest Huntington’s Disease Prevalence Using Diagnosed Incidence and Survival Time

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

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