Institute of Genomic Medicine and Rare Disorders, Semmelweis University, Budapest, Hungary.
Department of Nuclear Medicine, Hungarian Defence Force Medical Center, Budapest, Hungary.
BMC Neurol. 2019 Oct 28;19(1):260. doi: 10.1186/s12883-019-1496-y.
Parkinsonism is a complex multifactorial neurodegenerative disorder, in which genetic and environmental risk factors may both play a role. Among environmental risk factors cocaine was earlier ambiguously linked to Parkinsonism. Former single case reports described Parkinsonism in chronic cocaine users, but an epidemiological study did not confirm an increased risk of Parkinson's disease. Here we report a patient, who developed Parkinsonism in young age after chronic cocaine use, in whom a homozygous LRRK2 risk variant was also detected.
The patient was investigated because of hand tremor, which started after a 1.5-year period of cocaine abuse. Neurological examination suggested Parkinsonism, and asymmetrical pathology was confirmed by the dopamine transporter imaging study. The genetic investigations revealed a homozygous risk allele in the LRRK2 gene. After a period of cocaine abstinence, the patient's symptoms spontaneously regressed, and the dopamine transporter imaging also returned to near-normal.
This case report suggests that cocaine abuse indeed might be linked to secondary Parkinsonism and serves as an example of a potential gene-environmental interaction between the detected LRRK2 risk variant and cocaine abuse. The reversible nature of the DaTscan pathology is a unique feature of this case, and needs further evaluation, whether this is incidental or can be a feature of cocaine related Parkinsonism.
帕金森病是一种复杂的多因素神经退行性疾病，其中遗传和环境风险因素都可能起作用。在环境风险因素中，可卡因曾被含糊地与帕金森病联系在一起。以前的个别病例报告描述了慢性可卡因使用者出现帕金森病，但一项流行病学研究并未证实帕金森病的风险增加。在这里，我们报告了一例患者，他在长期使用可卡因后，在年轻时出现帕金森病，而且还检测到 LRRK2 风险变异的纯合子。
该患者因手部震颤而接受检查，震颤始于 1.5 年的可卡因滥用后。神经系统检查提示帕金森病，多巴胺转运体成像研究证实存在不对称性病变。基因调查显示 LRRK2 基因存在纯合风险等位基因。在可卡因戒断一段时间后，患者的症状自发消退，多巴胺转运体成像也恢复到接近正常。
本病例报告提示可卡因滥用确实可能与继发性帕金森病有关，并为检测到的 LRRK2 风险变异与可卡因滥用之间潜在的基因-环境相互作用提供了一个实例。DaTscan 病理学的可逆性质是本病例的一个独特特征，需要进一步评估，无论是偶然的还是可能是可卡因相关帕金森病的特征。
