携带常染色体隐性基因变异的帕金森病患者队列中的多巴胺能精准治疗:临床队列数据和小型综述。

IF 3.2 Q2 CLINICAL NEUROLOGY
Christos Koros, Athina-Maria Simitsi, Nikolaos Papagiannakis, Anastasia Bougea, Roubina Antonelou, Ioanna Pachi, Evangelos Sfikas, Evangelia Stanitsa, Efthalia Angelopoulou, Vasilios C Constantinides, Sokratis G Papageorgiou, Constantin Potagas, Maria Stamelou, Leonidas Stefanis
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引用次数: 0

摘要

导言:携带隐性基因变异的帕金森病(PD)患者表现出独特的临床表型,起病早,症状相对较轻。有关常染色体隐性帕金森病个体化治疗的数据仍然很少:方法:评估了一组隐性基因 PD 携带者(9 名同源或复合杂合 PRKN 携带者、4 名杂合 PRKN 携带者和 3 名双杂合子 PINK1 携带者)的人口统计学和治疗数据:PRKN携带者的平均左旋多巴等效日剂量(LEDD)为806.8 ± 453.5(范围152-1810),PINK1携带者的平均左旋多巴等效日剂量(LEDD)为765 ± 96.6(范围660-850)。大多数人对小剂量/中等剂量的左旋多巴有反应。多巴胺受体激动剂(DAs)作为初始治疗和纵向治疗的效果通常良好。共有8/13名PRKN和1/3名PINK1携带者成功接受了金刚烷胺治疗,这也适用于不能耐受左旋多巴或多巴胺受体激动剂的患者:在个性化治疗时代,隐性帕金森病基因携带者的治疗方法可能与特发性帕金森病不同。较低剂量的左旋多巴对病程较长的患者也有效,而少数患者在发病数十年后无需左旋多巴治疗也能保持良好状态。如果耐受性良好,DAs或金刚烷胺可作为一线和主要治疗方案。我们还将进一步讨论隐性帕金森病基因致病突变携带者的治疗策略文献数据,包括设备辅助治疗。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Precision Dopaminergic Treatment in a Cohort of Parkinson's Disease Patients Carrying Autosomal Recessive Gene Variants: Clinical Cohort Data and a Mini Review.

Introduction: Parkinson's disease (PD) patients harboring recessive gene variants exhibit a distinct clinical phenotype with an early disease onset and relatively mild symptoms. Data concerning individualized therapy for autosomal recessive PD forms are still scarce.

Methods: Demographic and treatment data of a cohort of PD carriers of recessive genes (nine homozygous or compound heterozygous PRKN carriers, four heterozygous PRKN carriers, and three biallelic PINK1 carriers) were evaluated.

Results: The average levodopa equivalent daily dose (LEDD) was 806.8 ± 453.5 (range 152-1810) in PRKN carriers and 765 ± 96.6 (range 660-850) in PINK1 carriers. The majority responded to low/moderate doses of levodopa. The response to dopamine agonists (DAs) was often favorable both as initial and longitudinal therapy. In total, 8/13 PRKN and 1/3 PINK1 carriers were treated with amantadine successfully, and this also applied to patients who could not tolerate levodopa or DAs.

Conclusions: In the era of personalized treatment, the therapeutic approach in recessive PD gene carriers might differ as compared to idiopathic PD. Lower LEDD doses were efficient even in patients with a very long disease duration, while a few patients were doing well without any levodopa treatment decades after disease initiation. DAs or amantadine could be used as a first and main line treatment regimen if well tolerated. Literature data on therapeutic strategies in carriers of pathogenic mutations in recessive PD genes, including device-aided treatments, will be further discussed.

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来源期刊
Neurology International
Neurology International CLINICAL NEUROLOGY-
CiteScore
3.70
自引率
3.30%
发文量
69
审稿时长
11 weeks
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