Levkova Mariya, Tsalta-Mladenov Mihael, Stoyanova Milena, Hachmeriyan Mari, Angelova Lyudmila, Kaprelyan Ara
Department of Medical Genetics, Medical University Varna, Marin Drinov Str 55, 9000 Varna, Bulgaria.
Laboratory of Medical Genetics, University Multiprofile Hospital for Active Treatment "St. Marina", Hristo Smirnenski Blv 1, 9000 Varna, Bulgaria.
Neurol Int. 2025 Jun 18;17(6):95. doi: 10.3390/neurolint17060095.
: Huntington's disease (HD) is a progressive, autosomal dominant neurodegenerative disorder caused by an expanded CAG repeat in the 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. : 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 < 0.05. : 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 ( = 0.011). Most patients had a positive family history, predominantly maternal. : 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.
亨廷顿舞蹈症(HD)是一种由基因中CAG重复序列扩增引起的进行性常染色体显性神经退行性疾病。尽管在了解其分子基础方面取得了进展,但包括保加利亚在内的许多国家的流行病学数据仍然有限。本研究旨在呈现一个20年单中心队列的临床和基因研究结果。:对2004年至2024年期间在瓦尔纳的“圣玛丽娜”大学医院接受HD评估的患者进行了回顾性研究。数据包括人口统计学、CAG重复序列长度、临床特征、影像学和精神评估。统计分析重点关注变量之间的相关性,显著性设定为<0.05。:在79名转诊个体中,43名得到分子确诊。平均发病年龄为43岁,诊断延迟四年。平均CAG重复序列长度为44.6,不过两名有症状的患者具有降低的外显率等位基因(38和39次重复)。认知和精神症状在72%的病例中均有出现。抑郁症在女性中显著更为普遍(=0.011)。大多数患者有阳性家族史,主要为母系遗传。:我们的研究结果突出了诊断延迟、性别特异性精神易感性以及个性化护理的重要性。改善遗传咨询的可及性和早期诊断对于优化治疗结果至关重要。