Dynactin-1 (DCTN1)-related Parkinson-plus disorder (Perry syndrome) is an autosomal dominant neurodegenerative disorder characterised by levodopa-resistant parkinsonism, weight loss, mood change and central hypoventilation. Ventilatory insufficiency is the predominant cause of death. It has been previously described in 87 people from 20 families with a worldwide distribution. It is now recognised as a distinct TDP-43 proteinopathy caused by a pathological mutation in DCTN1. Its rarity and clinical overlap with other neurodegenerative diseases increase the risk of delayed or incorrect diagnosis. Ventilatory support can improve life expectancy but this depends upon its recognition; overall its prognosis remains poor. We report a patient with DCTN1-related Parkinson-plus disorder, in whom genetic confirmation came only after death.

中文翻译：

---

DCTN1 相关帕金森综合征（佩里综合征）

Dynactin-1 (DCTN1) 相关的帕金森综合征（Perry 综合征）是一种常染色体显性神经退行性疾病，其特征是左旋多巴抗性帕金森综合征、体重减轻、情绪变化和中枢性换气不足。通气不足是主要的死亡原因。先前已在来自全球分布的 20 个家庭的 87 人中进行了描述。它现在被认为是由 DCTN1 中的病理突变引起的一种独特的 TDP-43 蛋白病。它的罕见性和与其他神经退行性疾病的临床重叠增加了延迟或错误诊断的风险。通气支持可以提高预期寿命，但这取决于对它的认可；总体而言，其预后仍然较差。我们报告了一名患有 DCTN1 相关帕金森加障碍的患者，该患者的基因确认仅在死亡后进行。