Boardman Jeremy, Mascareno Ponte Maria, Chaouch Amina, Kobylecki Christopher
Department of Neurology Lancashire Teaching Hospitals National Health Service (NHS) Trust Preston United Kingdom.
Department of Respiratory Medicine Manchester University NHS Foundation Trust Manchester United Kingdom.
Mov Disord Clin Pract. 2022 Jun 1;9(6):816-820. doi: 10.1002/mdc3.13473. eCollection 2022 Aug.
Perry syndrome is a rare autosomal dominant parkinsonian disorder characterized by respiratory failure. The variability in respiratory presentation in this condition is incompletely understood.
We report 2 first-degree relatives with Perry syndrome attributed to the same mutation in the Dynactin 1 gene. Their clinical presentations with respect to parkinsonism and respiratory failure were heterogeneous. The proband presented with acute respiratory failure requiring invasive ventilation on a background of parkinsonism and remains alive more than 3 years later with a good levodopa response. We contrast this with the published literature, in which acute respiratory presentations were associated with a poor outcome. The proband's brother presented with parkinsonism together with early falls and gait impairment and died following gradual hypoventilation despite noninvasive respiratory support.
Perry syndrome can show intrafamily heterogeneity in both movement disorder and respiratory presentations. Acute respiratory failure is often but not always associated with a poor outcome.
佩里综合征是一种罕见的常染色体显性帕金森病，其特征为呼吸衰竭。目前对该疾病呼吸表现的变异性尚未完全了解。
我们报告了2例因动力蛋白激活蛋白1基因相同突变导致佩里综合征的一级亲属。他们在帕金森病和呼吸衰竭方面的临床表现存在异质性。先证者在帕金森病背景下出现急性呼吸衰竭，需要有创通气，3年多后仍存活，对左旋多巴反应良好。我们将此与已发表的文献进行对比，文献中急性呼吸表现与不良预后相关。先证者的哥哥出现帕金森病，伴有早期跌倒和步态障碍，尽管接受了无创呼吸支持，但仍因逐渐出现的通气不足而死亡。
佩里综合征在运动障碍和呼吸表现方面均可表现出家族内异质性。急性呼吸衰竭常与不良预后相关，但并非总是如此。
