Problems of differential diagnostics of Huntington's disease and schizophrenia (clinical case)

 

Authors

 

A.E. Pershina

Mental Health Research Institute, Tomsk National Research Medical Center, Russian Academy of Sciences, Tomsk, Russian Federation

Yu.N. Borodyuk

Mental Health Research Institute, Tomsk National Research Medical Center, Russian Academy of Sciences, Tomsk, Russian Federation

V.V. Tiguntsev

Mental Health Research Institute, Tomsk National Research Medical Center, Russian Academy of Sciences, Tomsk, Russian Federation

A.A. Agarkov

Mental Health Research Institute, Tomsk National Research Medical Center, Russian Academy of Sciences, Tomsk, Russian Federation

E.V. Gutkevich

Mental Health Research Institute, Tomsk National Research Medical Center, Russian Academy of Sciences, Tomsk, Russian Federation

E.G. Kornetova

Mental Health Research Institute, Tomsk National Research Medical Center, Russian Academy of Sciences, Tomsk, Russian Federation

 

https://doi.org/10.26617/1810-3111-2025-1(126)-107-114

 

Journal: Siberian Herald of Psychiatry and Addiction Psychiatry. 2025; 1 (126):  107-114.

 

Abstract

Background. Huntington's disease (HD) is an orphan disease with an average prevalence of 5.5 per 100 thousand population worldwide, characterized by an autosomal dominant type of inheritance, complete penetrance and a steadily progressive course with subsequent disability. The clinical picture of HD is described by a triad, which includes movement disorders, cognitive impairment and psychopathological symptoms. Diagnosis of the onset of HD often causes significant difficulties, since in many patients mental disorders can precede motor disorders. In this case, the likelihood of erroneous diagnosis of an endogenous disease, in particular schizophrenia, increases. Objective: to study the current problems of differential diagnostics of Huntington's disease and schizophrenia based on the analysis of a clinical case. Results and Discussion. The article presents a clinical case of a 33-year-old patient of a psychiatric hospital with schizophrenia and an adverse family history, demonstrating the difficulties of differential diagnostics of Huntington's disease with schizophrenia. Due to a hereditary burden on the father's side, a history of motor disorders, and a decrease in cognitive functions, Huntington's disease was presumably diagnosed, but this diagnosis was excluded due to a negative DNA test result. The diagnosis was: paranoid schizophrenia, the observation period is less than a year (ICD-10 code F20.9), which was confirmed by clinical-anamnestic and clinical-psychopathological methods (hallucinatory-paranoid symptoms in the anamnesis, increasing apathoabulic syndrome, disturbance of social adaptation and thought disorder, a positive response to treatment in the form of stabilization of the mental state, reduction of stiffness).

 

Keywords: Huntington's disease, orphan diseases, schizophrenia, differential diagnostics, movement disorders.

 

Article (pdf)

 

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Materials  

For citation: Pershina A.E., Borodyuk Yu.N., Tiguntsev V.V., Agarkov A.A., Gutkevich E.V., Kornetova E.G. Problems of differential diagnostics of Huntington's disease and schizophrenia (clinical case). Siberian Herald of Psychiatry and Addiction Psychiatry.2025; 1 (126): 107-114. https://doi.org/10.26617/1810-3111-2025-1(126)-107-114

REFERENCES

  1. Baig SS, Strong M, Quarrell OW. The global prevalence of Huntington's disease: a systematic review and discussion. Neurodegener Dis Manag. 2016 Aug;6(4):331-43. https://doi.org/10.2217/nmt-2016-0008. Epub 2016 Jul 20. PMID: 27507223.
  2. Kutuev IA, Khusainova RI, Khidiyatova IM, Magzhanov RV, Khusnutdinova EK. Analysis of the IT15 gene in Huntington's chorea families. Russian Journal of Genetics. 2004;40(8):919-925. https://doi.org/10.1023/B:RUGE.0000039726.96053.78 (in Russian).
  3. ProskokovaTN, SkretnevAS. Epidemiology of Huntington’s disease in the Khabarovsk Territory. Annals of Clinical and Experimental Neurology. 2016;10(2):28-32 (in Russian).
  4. Klyushnikov SA. Huntington’s disease. L.O. Badalyan Neurological Journal. 2020;1(3):139-158. https://doi.org/10.46563/2686-8997-2020-1-3-139-158(in Russian).
  5. Bogomazova AN, Yeremeev AV, Pozmogova GE, Lagar’kova MA. The role of mutant RNA in the pathogenesis of Huntington's disease and other polyglutamine diseases. Molecular Biology. 2019;53(6):954-967. https://doi.org/10.1134/S002689841906003X(in Russian).
  6. Seliverstov YuA, Klyushnikov SA. Differential diagnosis of chorea. Nervous Diseases. 2015;1:6-15 (in Russian).
  7. McColgan P, Tabrizi SJ. Huntington's disease: a clinical review. Eur J Neurol. 2018 Jan;25(1):24-34. https://doi.org/10.1111/ene.13413. Epub 2017 Sep 22. PMID: 28817209.
  8. Gasenko KA, Arslanova AV. Huntington’s disease in psychiatric practice. S.S. Korsakov Journal of Neurology and Psychiatry. 2021;121(6):81‑86. https://doi.org/10.17116/202112106181(in Russian).
  9. Damulin IV, Romanov DV, Niinoya IV. Features of mental disorders in neurological diseases. Russian Medical Journal. 2019;25(5-6):335-342.http://dx.doi.org/10.18821/0869-2106-2019-25-5-6-335-342(in Russian).
  10. Jaini A, Yomtoob J, Yeh C, Bega D. Understanding HD psychosis: An analysis from the ENROLL-HD Database. Tremor Other Hyperkinet Mov (NY). 2020 Jul 7;10:16. https://doi.org/10.5334/tohm.395. PMID: 32775030; PMCID: PMC7394199.
  11. Klyushnikov SA, Yudina EN, Illarioshkin SN, Ivanova-Smolenskaya IA. Mental disorders in Huntington’s disease. Neurology, Neuropsychiatry, Psychosomatics. 2012;4(25):46-51. https://doi.org/10.14412/2074-2711-2012-2508(in Russian).
  12. Hirjak D, Meyer-Lindenberg A, Kubera KM, Thomann PA, Wolf RC. Motor dysfunction as research domain in the period preceding manifest schizophrenia: A systematic review. Neurosci Biobehav Rev. 2018 Apr;87:87-105. https://doi.org/10.1016/j.neubiorev.2018.01.011. Epub 2018 Feb 20. PMID: 29410313.
  13. Hirjak D, Kubera KM, Thomann PA, Wolf RC. Motor dysfunction as an intermediate phenotype across schizophrenia and other psychotic disorders: Progress and perspectives. Schizophr Res. 2018 Oct;200:26-34. https://doi.org/10.1016/j.schres.2017.10.007. Epub 2017 Nov 1. PMID: 29074330.
  14. Tsukarzi EE. Efficacy of aripiprazole (amdoal) in the long-term treatment of schizophrenia. S.S. Korsakov Journal of Neurology and Psychiatry. 2013;113(3):94-96 (in Russian).
  15. TsymbalAV, KornetovAN. Study of neurocognitive deficit in patients with schizophrenia treated with classical and atypical neuroleptics. Modern approaches in biomedical, clinical, psychological and sociocultural anthropology. Proceedings of the All-Russian conference with international participation: in 2 parts. Part 1. Novosibirsk: Ivan Fedorov Printing House, 2008:339-342 (in Russian).