Clinical and Epidemiological Aspects of Huntington Disease in the Republic of Tatarstan
- Authors: Munasipova S.E.1, Zalyalova Z.A.2
-
Affiliations:
- Kazan State Medical University
- Republican Center for Extrapyramidal Pathology and Botulinum Therapy
- Issue: Vol 14, No 2 (2020)
- Pages: 23-28
- Section: Original articles
- URL: https://ogarev-online.ru/2075-5473/article/view/124167
- DOI: https://doi.org/10.25692/ACEN.2020.2.3
- ID: 124167
Cite item
Full Text
Abstract
his study aimed to evaluate the epidemiological features ofHuntington disease (HD), based on data from the Centre for Extrapyramidal Pathology and Botulinum Toxin Therapy of theRepublic ofTatarstan.
Materials and methods. We examined 44 patients with HD (mean age 47.3 ± 12.5 years). The study design included determining and comparing clinical data, genealogical and epidemiological data, and laboratory parameters.
Results. The highest prevalence of HD was found in the north-western and north-eastern parts of theRepublic ofTatarstan being 1.1 per 100,000 people, regardless of nationality. The phenomenon of anticipation in HD inheritance was observed, considering the instability and increasing expansion in subsequent generations along the paternal line. Psychiatric manifestations (apathy, irritability, anxiety, depression) were present in 61.4% of cases at disease onset. One male patient was presumably diagnosed with the Westphal variant. Manifest carriers of a CAG-expansion in the range of 36–39 repeats in the mutant gene were found in 15.9% of cases and were predominantly represented by females (85.7%).
Keywords
About the authors
Sabina E. Munasipova
Kazan State Medical University
Author for correspondence.
Email: sabina.munasipova@mail.ru
Russian Federation, Kazan
Zuleykha A. Zalyalova
Republican Center for Extrapyramidal Pathology and Botulinum Therapy
Email: sabina.munasipova@mail.ru
Russian Federation, Kazan
References
- A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington’s disease chromosomes. The Huntington’s Disease Collaborative Research Group. Cell 1993; 72: 971–983. doi: 10.1016/0092-8674(93)90585-e. PMID: 8458085.
- Lanska D.J. George Huntington (1850–1916) and hereditary chorea. J Hist Neurosci 2000; 9: 76–89. doi: 10.1076/0964-704X(200004)9:1;1-2;FT076. PMID: 11232352.
- Antonova V.A. [Clinical and morphological polymorphism of Huntington's disease: PhD Thesis]. Nizhny Novgorod, 2014.
- Pringsheim T., Wiltshire K., Day L. et al. The incidence and prevalence of Huntington’s disease: a systematic review and meta-analysis. Mov Disord 2012; 27: 1083–1091. doi: 10.1002/mds.25075. PMID: 22692795.
- Tabrizi S.J., Langbehn D.R., Leavitt B.R. et al. Biological and clinical manifestations of Huntington's disease in the longitudinal TRACK-HD study: cross-sectional analysis of baseline data. Lancet Neurol 2009; 8: 791–801. doi: 10.1016/S1474-4422(09)70170-X. PMID: 19646924.
- Khidiyatova I.M. [Epidemiology and molecular genetic foundations of hereditary diseases of the nervous system in the Republic of Bashkortostan: D. Sci. Thesis]. Ufa, 2008. (In Russ.)
- Seliverstov Yu.A., Seliverstova E.V., Konovalov R.N. et al. [Clinical and neuroimaging analysis of Huntington's disease using functional magnetic resonance imaging]. Nevrologicheskiy zhurnal 2015; 20(3): 11–21. (In Russ.)
- Wexler A. The Woman Who Walked into the Sea: Huntington’s and the Making of a Genetic Disease. Yale, 2008.
- Walker F.O. Huntington's disease. Lancet 2007; 369: 9557. doi: 10.1016/S0140-6736(07)60111-1. PMID: 17240289.
- Novak M., Tabrizi S.J. Huntington’s disease. Br Med J 2010; 340: 3109. doi: 10.1136/bmj.c3109. PMID: 20591965.
- Frank S. Tetrabenazine: the first approved drug for the treatment of chorea in US patients with Huntington disease. Neuropsychiatr Dis Treat 2010; 6: 657–665. doi: 10.2147/NDT.S6430. PMID: 20957126.
- Rawlins M.D., Wexler N.S., Wexler A.R. et al. The prevalence of Huntington’s disease. Neuroepidemiology 2016; 46: 144–153. doi: 10.1159/000443738. PMID: 26824438.
- Wexler N.S., Collett L., Wexler A.R. et al. Incidence of adult Huntington’s disease in the UK: a UK-based primary care study and a systematic review. BMJ Open 2016; 6: e009070. doi: 10.1136/bmjopen-2015-009070. PMID: 26908513.
- Warby S.C., Visscher H., Collins J.A. et al. HTT haplotypes contribute to differences in Huntington disease prevalence between Europe and East Asia. Eur J Hum Genet 2011; 19: 561–566. doi: 10.1038/ejhg.2010.229. PMID: 21248742.
- Panas M., Karadima G., Vassos E. et al. Huntington’s disease in Greece: the experience of 14 years. Clin Genet 2011; 80: 586–590. doi: 10.1111/j.1399-0004.2010.01603.x. PMID: 21166788.
- Duff K., Paulsen J.S., Beglinger L.J. “Frontal” behaviors before the diagnosis of Huntington’s disease and its relationship to markers of disease progression: Evidence of early lack of awareness. J Neuropsychiatry Clin Neurosci 2010; 22(2): 196–207. doi: 10.1176/jnp.2010.22.2.196. PMID: 20463114.
- van Duijn E., Vrijmoeth E.M., Giltay E.J. et al. Suicidal ideation and suicidal behavior according to the C-SSRS in a European cohort of Huntington's disease gene expansion carriers. J Affect Disord 2018; 228: 194–204. doi: 10.1016/j.jad.2017.11.074. PMID: 29253686.
- Persichetti F., Srinidhi J., Kanaley L. et al. Huntington’s disease CAG trinucleotide repeats in pathologically confirmed post-mortem brains. Neurobiol Dis 1994; 1: 159–166. doi: 10.1006/nbdi.1994.0019. PMID: 9173995.
- Demetriou A., Heraclides C., Salafori G.A. et al. Epidemiology of Huntington disease in Cyprus: A 20-year retrospective study Clin Genet 2018; 93: 656–664. doi: 10.1111/cge.13168. PMID: 29105741.
- Munasipova S.E., Zalyalova Z.A., Khasanova D.M. The epidemiological features of Huntington's disease in Tatarstan based on the data’s of Republic Centre for Movement Disorders and Botulinum Therapy. Enroll-HD Congress 2018. Quebec, 2018.
Supplementary files
