背景:早发性帕金森病(EOPD)标记那些发病早于50岁的病例。尽管在临床或病理特征中出现了特殊性,EOPD是典型的管理方式,迟发性PD.定制的方法是,相反,更合适。因此,更深入地描述临床过程,随着疾病进展率的估计,治疗流程,以及主要的运动和非运动并发症的发生,是需要的。
方法:回顾性分析了193例EOPD患者的纵向队列(在2000例PD患者的单中心人群中选择),提供一系列临床参数的描述性静力学(遗传学,表型,合并症,疗法,运动和非运动并发症,婚姻和性别问题),并对Hoehn和Yahr(H&Y)阶段和左旋多巴等效日剂量(LEDD)从诊断到10年后的轨迹进行建模。
结果:EOPD的患病率为9.7%,包括很少的单基因病例。它主要表现为运动综合征,不对称,刚性运动演示。H&Y线性进展,增量为0.92点/10年;LEDD流量呈非线性趋势,在0-5年内增加526.90毫克/天,和166.83毫克/天在5-10年。运动波动从发病6.5±3.2年开始,影响高达80%的队列。50%的人对神经精神问题感兴趣,性投诉占12%。出现了特定性别的运动障碍。
结论:我们塑造了EOPD课程,模拟“大脑优先”PD亚型,慢慢进步,具有非线性多巴胺能需求。主要负担主要来自电机波动,神经精神并发症,性和婚姻投诉,具有相当大的性别效应。
BACKGROUND: Early -onset Parkinson\'s disease (EOPD) labels those cases with onset earlier than fifty. Although peculiarities emerged either in clinical or pathological features, EOPD is managed alike typical, late-onset PD. A customized approach would be, instead, better appropriate. Accordingly, a deeper characterization of the clinical course, with an estimation of the disease progression rate, the therapy flow, and the main motor and non-motor complications occurrence, is needed.
METHODS: A longitudinal cohort of 193 EOPD patients (selected on a single-centre population of 2000 PD cases) was retrospectively analysed, providing descriptive statics on a series of clinical parameters (genetics, phenotype, comorbidities, therapies, motor and non-motor complications, marital and gender issues) and modelling the trajectories from diagnosis to 10 years later of both Hoehn and Yahr (H&Y) stage and levodopa equivalent daily dose (LEDD).
RESULTS: EOPD had a prevalence of 9.7%, including few monogenic cases. It mostly appeared as a motor syndrome, with asymmetric, rigid-akinetic presentation. H&Y linearly progressed with an increment of 0.92 points/10 years; LEDD flow had a non-linear trend, increasing of 526.90 mg/day in 0-5 years, and 166.83 mg/day in 5-10 years. Motor fluctuations started 6.5 ± 3.2 years from onset, affecting up to 80% of the cohort. Neuropsychiatric troubles interested the 50%, sexual complaints the 12%. Gender-specific motor disturbances emerged.
CONCLUSIONS: We shaped EOPD course, modelling a \"brain-first\" PD subtype, slowly progressive, with non-linear dopaminergic requirement. Major burden mostly resulted from motor fluctuations, neuropsychiatric complications, sexual and marital complaints, with a considerable gender-effect.