A professional sportsperson with subtle motor symptoms and signs early-onset Parkinson’s disease.pdf

A 41-year-old professional hockey referee was referred to our clinic with an 8-month history of walking difficulties; previously he had consulted several orthopaedic surgeons and had undergone physical therapy—with limited benefit—for a presumed knee injury. The patient had no notable medical history, but reported two maternal aunts with Parkinson’s disease which had presented at over the age of 65 years; his parents and sister were healthy. On examination he appeared generally fit and well; however, a neurological examination found that he had hypomimia, mild rigidity, and bradykinesia on motor tasks in both legs, but predominantely in the right (video). The patient’s gait showed dystonic posturing of the right foot with involuntary plantar flexion and inversion, and asymmetrically reduced arm swing; his walking difficulties improved by running and walking backwards (figure; video). Additionally, despite having difficulties walking, he reported no problems while riding his bicycle (video).

一名 41 岁的专业曲棍球裁判因 8 个月的行走困难病史被转诊至我们的诊所； 之前，他曾咨询过几位整形外科医生，并接受过物理治疗——效果有限——推测是膝盖受伤。 患者无明显病史，自述有2位姨母患有帕金森病，均在65岁以上就诊； 他的父母和姐姐都很健康。 经检查，他看起来身体健康。 然而，一项神经学检查发现，他在双腿运动任务中存在模仿能力减退、轻度僵硬和运动迟缓，但主要是右腿（视频）。 患者的步态显示右脚肌张力障碍姿势不自主的跖屈和内翻，手臂摆动不对称减少； 通过跑步和倒着走，他的行走困难有所改善（图；视频）。 此外，尽管行走困难，但他骑自行车时没有遇到任何问题（视频）。

Laboratory investigations showed no atypical findings, imaging likewise. Molecular genetic analysis showed compound heterozygous mutations of the parkin (PRKN)gene, confirming a diagnosis of early-onset Parkinson’s disease. A levodopa and carbidopa combination, which was titrated up to 100 mg three times a day, provided sustained clinical benefit. At follow-up 6 months later, the patient reported feeling better, without fluctuations of motor function; the bradykinesia had improved and there was less dystonic posturing when walking. He had resumed his professional activities.

实验室调查显示没有非典型发现，同样成像。 分子遗传学分析显示帕金 (PRKN) 基因的复合杂合突变，证实了早发性帕金森病的诊断。 左旋多巴和卡比多巴的组合，每天三次滴定至 100 毫克，提供了持续的临床益处。 6 个月后随访，患者自述感觉好转，运动功能无波动； 运动迟缓得到改善，行走时肌张力障碍姿势减少。 他已经恢复了他的专业活动。

PRKN mutations are the commonest type of autosomal recessive Parkinson’s disease, accounting for between 14 and 25% of early-onset cases. A delay between symptom onset and diagnosis is often observed because dystonia and parkinsonism may be unrecognised—especially in younger patients. Important clinical clues may be overlooked; for example, people with Parkinson’s disease may find running or riding a bicycle easier than walking—as in our case—despite clear motor impairment, which is suggestive of dystonia.

PRKN 突变是最常见的常染色体隐性遗传帕金森病类型，占早发病例的 14% 至 25%。 由于肌张力障碍和帕金森综合征可能未被识别——尤其是在年轻患者中，因此经常观察到症状发作和诊断之间的延迟。 重要的临床线索可能被忽视； 例如，帕金森病患者可能会发现跑步或骑自行车比步行更容易——就像我们的病例一样——尽管有明显的运动障碍，这表明肌张力障碍。

The combination of parkinsonism with lower-limb dystonia in a young patient should alert clinicians to the possibility of Parkinson’s disease with a genetic aetiology. Early-onset Parkinson’s disease, caused by PRKN mutations, is a possibility, especially if hyper-reflexia, diurnal fluctuations, and levodopa-induced lower-limb dyskinesia are present.

帕金森综合症伴有下肢肌张力障碍的年轻患者应提醒临床医生注意帕金森病与遗传病因学的可能性。 由 PRKN 突变引起的早发性帕金森病是一种可能性，特别是如果存在反射亢进、昼夜波动和左旋多巴诱发的下肢运动障碍。