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Neurology International
Volume 17
Issue 6
10.3390/neurolint17060095
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Article

Two Decades of Huntington’s Disease in Varna, Bulgaria: A Retrospective Single-Centre Study of Clinical Trends and Challenges

by
Mariya Levkova
1,2,*,
Mihael Tsalta-Mladenov
3,4,
Milena Stoyanova
1,2,
Mari Hachmeriyan
1,2,
Lyudmila Angelova
1 and
Ara Kaprelyan
3
1
Department of Medical Genetics, Medical University Varna, Marin Drinov Str 55, 9000 Varna, Bulgaria
2
Laboratory of Medical Genetics, University Multiprofile Hospital for Active Treatment “St. Marina”, Hristo Smirnenski Blv 1, 9000 Varna, Bulgaria
3
Department of Neurology and Neuroscience, Medical University Varna, Marin Drinov Str 55, 9000 Varna, Bulgaria
4
Second Clinic of Neurology with ICU and Stroke Unit, University Multiprofile Hospital for Active Treatment “St. Marina”, Hristo Smirnenski Blv 1, 9000 Varna, Bulgaria
*
Author to whom correspondence should be addressed.
Neurol. Int. 2025, 17(6), 95; https://doi.org/10.3390/neurolint17060095
Submission received: 3 May 2025 / Revised: 30 May 2025 / Accepted: 17 June 2025 / Published: 18 June 2025
(This article belongs to the Section Movement Disorders and Neurodegenerative Diseases)
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Abstract

Background: Huntington’s disease (HD) is a progressive, autosomal dominant neurodegenerative disorder caused by an expanded CAG repeat in the HTT gene. Despite advances in understanding its molecular basis, epidemiological data in many countries, including Bulgaria, remain limited. This study aims to present clinical and genetic findings from a 20-year single-centre cohort. Methods: A retrospective review was conducted of patients evaluated for HD at the University Hospital “St. Marina” in Varna between 2004 and 2024. Data included demographics, CAG repeat length, clinical features, imaging, and psychiatric assessments. Statistical analysis focused on correlations between variables, with significance set at p < 0.05. Results: Out of 79 referred individuals, 43 were molecularly confirmed. The mean age of onset was 43 years, with a four-year diagnostic delay. The average CAG repeat length was 44.6, though two symptomatic patients had reduced penetrance alleles (38 and 39 repeats). Cognitive and psychiatric symptoms were each present in 72% of cases. Depression was significantly more prevalent in women (p = 0.011). Most patients had a positive family history, predominantly maternal. Conclusions: Our findings highlight diagnostic delays, gender-specific psychiatric vulnerabilities, and the importance of personalized care. Improved access to genetic counselling and early diagnosis are essential for optimizing outcomes.
Keywords: Huntington’s disease; epidemiology; genetic counselling; neurodegeneration Huntington’s disease; epidemiology; genetic counselling; neurodegeneration

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MDPI and ACS Style

Levkova, M.; Tsalta-Mladenov, M.; Stoyanova, M.; Hachmeriyan, M.; Angelova, L.; Kaprelyan, A. Two Decades of Huntington’s Disease in Varna, Bulgaria: A Retrospective Single-Centre Study of Clinical Trends and Challenges. Neurol. Int. 2025, 17, 95. https://doi.org/10.3390/neurolint17060095

AMA Style

Levkova M, Tsalta-Mladenov M, Stoyanova M, Hachmeriyan M, Angelova L, Kaprelyan A. Two Decades of Huntington’s Disease in Varna, Bulgaria: A Retrospective Single-Centre Study of Clinical Trends and Challenges. Neurology International. 2025; 17(6):95. https://doi.org/10.3390/neurolint17060095

Chicago/Turabian Style

Levkova, Mariya, Mihael Tsalta-Mladenov, Milena Stoyanova, Mari Hachmeriyan, Lyudmila Angelova, and Ara Kaprelyan. 2025. "Two Decades of Huntington’s Disease in Varna, Bulgaria: A Retrospective Single-Centre Study of Clinical Trends and Challenges" Neurology International 17, no. 6: 95. https://doi.org/10.3390/neurolint17060095

APA Style

Levkova, M., Tsalta-Mladenov, M., Stoyanova, M., Hachmeriyan, M., Angelova, L., & Kaprelyan, A. (2025). Two Decades of Huntington’s Disease in Varna, Bulgaria: A Retrospective Single-Centre Study of Clinical Trends and Challenges. Neurology International, 17(6), 95. https://doi.org/10.3390/neurolint17060095

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