Lallemant-Dudek Pauline, Guillaud-Bataille Marine, Hentzen Claire, Joussain Charles, Pichon Bertrand, Robain Gilberte, Haddad Rebecca, Coarelli Giulia, Heinzmann Anna, Denys Pierre, Amarenco Gérard, Durr Alexandra
Sorbonne Université, Paris Brain Institute (ICM Institut du Cerveau), INSERM, CNRS, Assistance Publique-Hôpitaux de Paris (APHP), University Hospital Pitié-Salpêtrière, Paris, France.
Sorbonne Université, Pediatric Physical Medicine and Rehabilitation Department, Hospital Armand Trousseau, Paris, France.
Eur J Neurol. 2025 Jan;32(1):e70003. doi: 10.1111/ene.70003.
The aim of this study was to characterize hereditary spastic paraplegias (HSP) patients' urodynamic profiles and development of bladder symptoms.
This is a multicentric retrospective study which included patients presenting with bladder disorders. We reviewed medical and urodynamic records in individuals with HSP and recorded age at onset of gait and bladder disorders, disability stage at the time of urodynamic assessment.
We included 122 participants. They were mostly men (n = 74) with a median age at interview of 54.6 ± 13.0 [25-76] years. The underlying genetic cause was identified in 70% of participants, with 54 heterozygous mutations in SPAST, followed by 7 SPG11 and 6 SPG7. The age at onset of motor disorder was significantly younger than for the beginning of bladder dysfunction (49.3 vs. 29.7 years-old, p < 0.001). Detrusor overactivity was present in most participants (72.1%), followed by detrusor-sphincter-dyssynergia (65.3%). Similar proportions were present in the SPAST group as well as the non-SPAST group. The SPAST group developed urinary symptoms later than the non-SPAST group as compared to the age at onset of spasticity (53.8 ± 11.3 and 44.1 ± 13.2 for the SPAST group vs. 44.1 ± 13.2 and 25.5 ± 17.3 for the non-SPAST group).
We have shown that the most common urodynamic pattern in HSP is detrusor overactivity associated with detrusor-sphincter dyssynergia, as would be expected for upper motor neuron lesions. We assessed the temporal window of onset, showing that urinary disorders are secondary to spastic gait in HSP and particularly frequent when walking capability deteriorates.
本研究旨在描述遗传性痉挛性截瘫（HSP）患者的尿动力学特征及膀胱症状的发展情况。
这是一项多中心回顾性研究，纳入了出现膀胱功能障碍的患者。我们回顾了HSP患者的医疗和尿动力学记录，并记录了步态和膀胱功能障碍的发病年龄、尿动力学评估时的残疾阶段。
我们纳入了122名参与者。他们大多为男性（n = 74），访谈时的中位年龄为54.6 ± 13.0 [25 - 76]岁。70%的参与者确定了潜在的遗传病因，其中54个为SPAST基因的杂合突变，其次是7个SPG11和6个SPG7。运动障碍的发病年龄显著低于膀胱功能障碍的发病年龄（49.3岁对29.7岁，p < 0.001）。大多数参与者存在逼尿肌过度活动（72.1%），其次是逼尿肌-括约肌协同失调（65.3%）。SPAST组和非SPAST组的比例相似。与痉挛发作年龄相比，SPAST组出现泌尿系统症状的时间晚于非SPAST组（SPAST组为53.8 ± 11.3，非SPAST组为44.1 ± 13.2；非SPAST组为44.1 ± 13.2，25.5 ± 17.3）。
我们已经表明，HSP最常见的尿动力学模式是与逼尿肌-括约肌协同失调相关的逼尿肌过度活动，这与上运动神经元损伤的预期情况一致。我们评估了发病的时间窗，表明泌尿系统疾病是HSP中痉挛步态的继发症状，并且在行走能力恶化时尤为常见。
