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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
  1. Ferdinando Squitieri1,
  2. Sabrina Maffi1,
  3. Salma Al Harasi2,
  4. Qasem Al Salmi3,
  5. Barbara D'Alessio4,
  6. Giovanni Capelli5,
  7. Tommaso Mazza6
  1. 1Huntington and Rare Diseases Unit, Fondazione IRCCS Casa Sollievo della Sofferenza Research Hospital, San Giovanni Rotondo, Italy
  2. 2National Genetic Centre, Royal Hospital Medical Library, Muscat, Muscat, Oman
  3. 3Royal Hospital General Direction, Ministry of Health Oman, Muscat, Oman
  4. 4LIRH Foundation, Italian League for Research on Huntington Disease, Rome, Italy
  5. 5Biostatistics, Università degli Studi di Cassino e del Lazio Meridionale, Cassino, Lazio, Italy
  6. 6Bioinformatics Unit, Fondazione IRCCS Casa Sollievo della Sofferenza Research Hospital, San Giovanni Rotondo, Italy
  1. Correspondence to Dr Ferdinando Squitieri, Huntington and Rare Diseases Unit, IRCCS Ospedale Casa Sollievo della Sofferenza, San Giovanni Rotondo 00198, Italy; f.squitieri{at}css-mendel.it

https://doi.org/10.1136/jnnp-2020-323241

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    Introduction

    Huntington disease (HD) is a neurodegenerative, dominantly inherited disorder, which may result in a debilitating movements disorder and cognitive decline with progressive loss of independence. HD frequency in the Middle East has never been defined after the HTT gene discovery and cases of HD have been reported only sporadically.1

    In July 2013, Italian League for Research on Huntington Disease Foundation was contacted by a family from Oman, who reported to be affected by HD since many generations. Indeed, that family may represent the largest HD cluster ever described in the Middle East, owing to a high number of intermarriages and subsequent increase in mutation heritability risk. Given the gaps in our knowledge about HD in the Middle East, we took the opportunity to study and determine the incidence and prevalence of HD in this region.

    Subjects and methods

    We performed an observational, service based, study from August 2013 to March 2019 in the Muscat region, Sultanate of Oman. Prevalence was estimated on the number of affected and at-risk individuals, who were referred to the National Genetic Centre (NGC) of the Royal Hospital in Muscat, the main Ministry of Health Country health organisation. We are, therefore, confident to have an accurate representation of most HD cases and families who reside in this region. A priori risk, that is, the risk of disease associated with an individual at birth, was separated into groups: 50% risk (a first-degree relative is affected with or mutation-positive for HD), and >50% risk (an individual with both at-risk parents or one affected and one at-risk parent). All subjects were clinically evaluated by the Unified HD Rating Scale (UHDRS)2 and examined by the same neurologist (FS) with expertise in HD. Clinical characteristics, including age at onset, age at death and symptoms presentation, were recorded based on first relevant neurological and …

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    Footnotes

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    • Contributors FS: study concept and design, drafting and revising of manuscript, acquisition and interpretation of data. SM: data acquisition, revising the manuscript critically for content, study supervision. SAH: genetic test for HD in Oman, data and DNA collection, revising and approval of manuscript. QAS: data acquisition accuracy, logistic support at Royal Hospital, critical review and approval of the manuscript. BD: data acquisition accuracy and integrity, critical review and approval of the manuscript. GC: reviewed the epidemiological study design and provided critical review and approval of the manuscript. TM: designed statistical analysis, was involved in the data analysis and provided critical review of the manuscript. All authors gave final approval of the version to be published.

    • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

    • Competing interests FS provided consulting services and advisory board functions to Teva, Pfizer, Hoffmann-La Roche, Novartis, PTC Therapeutics, UCB, Oman Ministry of Health - Sultanate of Oman. He is cofounder, scientific officer and consultant of the not-for-profit organisation Italian League for Research on Huntington disease (LIRH Foundation).

    • Patient consent for publication Not required.

    • Ethics approval Institutional Review Board of LIRH Foundation (Prot. 1.050219/mob) and Ethical Committee, Directorate General of the Royal Hsopital, Ministry of Health, Muscat, Sultanate of Oman (reference number: SRC#31/2020).

    • Provenance and peer review Not commissioned; externally peer reviewed.