The neuropsychiatric phenotype in Darier disease
The neuropsychiatric phenotype in Darier disease
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DOI：
10.1111/j.1365-2133.2010.09834.x
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发表时间：
2010-09-01
影响因子：
10.3
通讯作者：
Craddock, N.
中科院分区：
文献类型：
--
作者：
Gordon-Smith, K.;Jones, L. A.;Craddock, N.
Darier病(DD)是一种罕见的常染色体显性遗传性皮肤病，皮肤科医生经常报告该病合并神经精神异常。目的首次系统研究DDD的神经精神病学表型。方法采用一系列标准化的神经精神病学测量方法对100例无关的DD患者进行评估。结果DD患者的终生心境障碍(50%)，尤其是重度抑郁(30%)和双相情感障碍(4%)，以及自杀企图(13%)和自杀念头(31%)的发生率很高。与一般人口数据相比，这些在DD中更为常见。样本中癫痫的患病率(3%)也高于普通人群的患病率。结论这些发现强调了临床医生评估和识别DD的神经精神症状的必要性。这些结果并不表明神经精神症状是对皮肤病的简单心理反应，但与ATP2A2基因突变除了导致DD外，还增加了神经精神症状易感性的多效性假说是一致的。需要进一步的研究来调查ATP2A2致病突变的类型和/或位置与表达的神经精神表型之间的基因型-表型相关性。
P>BackgroundDarier disease (DD) is a rare autosomal dominantly inherited skin disorder in which co-occurrence of neuropsychiatric abnormalities has been frequently reported by dermatologists. It is caused by mutations in a single gene, ATP2A2, which is expressed in the skin and brain.ObjectivesTo conduct the first systematic investigation of the neuropsychiatric phenotype in DD.MethodsOne hundred unrelated individuals with DD were assessed using a battery of standardized neuropsychiatric measures. Data were also obtained on a number of clinical features of DD.ResultsIndividuals with DD were found to have high lifetime rates of mood disorders (50%), specifically major depression (30%) and bipolar disorder (4%), and suicide attempts (13%) and suicidal thoughts (31%). These were more common in DD when compared with general population data. The prevalence of epilepsy (3%) in the sample was also higher than the prevalence in the general population. There was no consistent association of specific dermatological features of DD and presence of psychiatric features.ConclusionsThese findings highlight the need for clinicians to assess and recognize neuropsychiatric symptoms in DD. The results do not suggest that neuropsychiatric symptoms are simply a psychological reaction to having a skin disease, but are consistent with the pleiotropy hypothesis that mutations in the ATP2A2 gene, in addition to causing DD, confer susceptibility to neuropsychiatric features. Further research is needed to investigate genotype-phenotype correlations between the types and/or locations of pathogenic mutations within ATP2A2 and the expressed neuropsychiatric phenotypes.