Perry syndrome: A disorder to consider in the differential diagnosis of Parkinsonism
Perry syndrome: A disorder to consider in the differential diagnosis of Parkinsonism
复制标题
DOI：
10.1016/j.jns.2013.04.008
复制
发表时间：
2013-07-15
影响因子：
4.4
通讯作者：
Alusi, S. H.
中科院分区：
文献类型：
--
作者：
Aji, B. M.;Medley, G.;Alusi, S. H.
一名患有情绪障碍和帕金森综合征的患者，其额叶认知障碍被认为类似于进行性核上性麻痹，但直到发生呼吸功能损害才得到精确诊断，这促使人们考虑诊断为佩里综合征。dynactin 1基因突变证实了诊断。很少有这种疾病的例子，其特征是抑郁症，帕金森症和呼吸功能不全，但它可能更常见的遗传检测的可用性。佩里综合征需要考虑在帕金森综合征的鉴别诊断，特别是在常染色体显性遗传家系。在病程早期诊断可能有助于监测和及时干预，以避免潜在的致命性呼吸衰竭。(C)2013爱思唯尔有限公司版权所有。
A patient with a mood disorder and a Parkinsonian syndrome with frontal cognitive impairment thought to resemble progressive supranuclear palsy defied precise diagnosis until the development of respiratory compromise, prompting consideration of the diagnosis of Perry syndrome. A mutation in the dynactin 1 gene confirmed the diagnosis. Few examples of this disorder, characterised by depression, Parkinsonism, and respiratory insufficiency, have been reported but it may be more commonly recognised with the availability of genetic testing. Perry syndrome needs to be considered in the differential diagnosis of Parkinsonism, particularly in autosomal dominant pedigrees. Diagnosis early in the disease course may facilitate monitoring and prompt intervention to avoid potentially fatal respiratory failure. (C) 2013 Elsevier B.V. All rights reserved.