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Introduction <p>Huntington’s disease (HD) is a progressive neurodegenerative disorder caused by an expanded cytosine-adenine-guanine (CAG) trinucleotide repeat on chromosome 4. Exploring sex-related differences in disease manifestation may improve understanding and guide more tailored therapeutic and supportive interventions.</p> Objective <p>To investigate sex differences in the clinical presentation and functional outcomes in a single-center HD cohort, including employment status and use of supportive therapies.</p> Methods <p>We retrospectively analyzed 102 patients with HD who were regularly seen at the Department of Neurology, Medical University of Innsbruck. Exact CAG repeat length was available for 101 participants. Multinomial logistic regression was applied to assess symptom distribution, access to neurorehabilitation, and the impact on employment status.</p> Results <p>We included 44 men and 58 women with genetically confirmed Huntington’s Disease. Among participants with available CAG data (<i>n</i> = 101), there was no difference in CAG-Repeat length between male and female patients as well as no differences in the onset of motor or non-motor symptoms (all p-values &gt; 0.05). We found that irritability was significantly more prevalent in female patients (<i>p</i> = 0.033). Moreover, women were significantly less likely to be employed than men (<i>p</i> &lt; 0.001). No sex differences were observed in the utilization of non-pharmacological therapies such as physiotherapy, occupational therapy, speech therapy, or psychotherapy (<i>p</i> &gt; 0.05).</p> Conclusion <p>Female patients with HD showed higher rates of irritability and lower workforce participation, suggesting clinically relevant sex-related differences. These findings highlight the importance of considering sex as a factor in both clinical management and social support strategies.</p>

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Bridging the gap: sex-specific differences in Huntington’s disease

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2026年1月10日

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  • Greta Hemicker,
  • Katarína Schwarzová,
  • Samuel Labrecque,
  • Clancy Cerejo,
  • Federico Carbone,
  • Marina Peball,
  • Bernadette Wimmer,
  • Philipp Mahlknecht,
  • Florian Krismer,
  • Atbin Djamshidian,
  • Klaus Seppi,
  • Beatrice Heim

摘要

Introduction

Huntington’s disease (HD) is a progressive neurodegenerative disorder caused by an expanded cytosine-adenine-guanine (CAG) trinucleotide repeat on chromosome 4. Exploring sex-related differences in disease manifestation may improve understanding and guide more tailored therapeutic and supportive interventions.

Objective

To investigate sex differences in the clinical presentation and functional outcomes in a single-center HD cohort, including employment status and use of supportive therapies.

Methods

We retrospectively analyzed 102 patients with HD who were regularly seen at the Department of Neurology, Medical University of Innsbruck. Exact CAG repeat length was available for 101 participants. Multinomial logistic regression was applied to assess symptom distribution, access to neurorehabilitation, and the impact on employment status.

Results

We included 44 men and 58 women with genetically confirmed Huntington’s Disease. Among participants with available CAG data (n = 101), there was no difference in CAG-Repeat length between male and female patients as well as no differences in the onset of motor or non-motor symptoms (all p-values > 0.05). We found that irritability was significantly more prevalent in female patients (p = 0.033). Moreover, women were significantly less likely to be employed than men (p < 0.001). No sex differences were observed in the utilization of non-pharmacological therapies such as physiotherapy, occupational therapy, speech therapy, or psychotherapy (p > 0.05).

Conclusion

Female patients with HD showed higher rates of irritability and lower workforce participation, suggesting clinically relevant sex-related differences. These findings highlight the importance of considering sex as a factor in both clinical management and social support strategies.