Typical features of Parkinson disease and diagnostic challenges with microdeletion 22q11.2.
Typical features of Parkinson disease and diagnostic challenges with microdeletion 22q11.2.
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DOI：
10.1212/wnl.0000000000005660
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发表时间：
2018-06-05
期刊：
影响因子：
9.9
通讯作者：
International Research Group on 22q11.2DS-associated Parkinson's Disease
中科院分区：
文献类型：
--
作者：
Boot E;Butcher NJ;Udow S;Marras C;Mok KY;Kaneko S;Barrett MJ;Prontera P;Berman BD;Masellis M;Dufournet B;Nguyen K;Charles P;Mutez E;Danaila T;Jacquette A;Colin O;Drapier S;Borg M;Fiksinski AM;Vergaelen E;Swillen A;Vogels A;Plate A;Perandones C;Gasser T;Clerinx K;Bourdain F;Mills K;Williams NM;Wood NW;Booij J;Lang AE;Bassett AS;International Research Group on 22q11.2DS-associated Parkinson's Disease
描述22q11.2缺失综合征（22q11.2DS）患者帕金森病（PD）的自然病史、诊断和治疗反应，并确定这些患者是否与特发性PD患者不同。在这项国际观察性研究中，我们描述了45例22q11.2DS和PD患者的临床和神经影像学特征（平均随访7.5 ± 4.1年）。22q11.2DS PD具有典型的男性过量（32例男性，71.1%），表现为标志性运动症状并进展，分子成像显示纹状体多巴胺转运蛋白结合减少，左旋多巴初始阳性反应（93.3%）。运动症状发作时的平均年龄相对年轻（39.5 ± 8.5岁）; 71.4%的病例有早发性PD（<45岁）。尽管发病年龄相似，但与抗精神病药物初治患者相比，有抗精神病药物治疗史的患者PD诊断延迟（中位数5 vs 1年，p = 0.001）。既存精神障碍（24.5%）和情绪或焦虑障碍（31.1%）是常见的，早期肌张力障碍（19.4%）和癫痫发作史（33.3%）也是常见的。22q11.2DS相关PD的主要临床特征和对标准治疗的反应与特发性PD相似，尽管平均发病年龄更早。重要的是，治疗既存精神病可能会延迟22q11.DS患者的PD诊断。对复杂合并症的怀疑和警惕指数可能有助于确定优先进行基因检测的患者。
To delineate the natural history, diagnosis, and treatment response of Parkinson disease (PD) in individuals with 22q11.2 deletion syndrome (22q11.2DS), and to determine if these patients differ from those with idiopathic PD. In this international observational study, we characterized the clinical and neuroimaging features of 45 individuals with 22q11.2DS and PD (mean follow-up 7.5 ± 4.1 years). 22q11.2DS PD had a typical male excess (32 male, 71.1%), presentation and progression of hallmark motor symptoms, reduced striatal dopamine transporter binding with molecular imaging, and initial positive response to levodopa (93.3%). Mean age at motor symptom onset was relatively young (39.5 ± 8.5 years); 71.4% of cases had early-onset PD (<45 years). Despite having a similar age at onset, the diagnosis of PD was delayed in patients with a history of antipsychotic treatment compared with antipsychotic-naive patients (median 5 vs 1 year, p = 0.001). Preexisting psychotic disorders (24.5%) and mood or anxiety disorders (31.1%) were common, as were early dystonia (19.4%) and a history of seizures (33.3%). Major clinical characteristics and response to standard treatments appear comparable in 22q11.2DS-associated PD to those in idiopathic PD, although the average age at onset is earlier. Importantly, treatment of preexisting psychotic illness may delay diagnosis of PD in 22q11.DS patients. An index of suspicion and vigilance for complex comorbidity may assist in identifying patients to prioritize for genetic testing.