Selective Dorsal Rhizotomy for Treatment of Hereditary Spastic Paraplegia-Associated Spasticity in 37 Patients

Abstract

BackgroundA limited number of publications have described a reduction of spasticity associated with hereditary spastic paraplegia (HSP) after selective dorsal rhizotomy (SDR). Typically, the SDR procedure is performed on patients with spastic cerebral palsy to remove spasticity and to help these patients with ambulatory function. Whether SDR has similar effects on HSP patients, requires further investigation. Thus, we are providing a personal experience of the effects of SDR on this specific cohort of patients. ObjectivesTo examine the safety of SDR, changes in spasticity, and ambulatory function after SDR on patients with HSP. MethodsThe Institutional Review Board of Washington University School of Medicine approved this study (#201704003). A total of 37 children and adults received SDR for the treatment of HSP-associated spasticity between 1988 and 2021. SDR was performed through an L1 laminectomy, as we previously described in an earlier publication. The patients took part in the follow-up examination either in-person or by email. The follow-up focused on the patients' motor functions (primarily ambulation), adverse effects of SDR, and orthopedic treatments after SDR. ResultsOf the total 37 patients who participated in this study, 46% were female and 54% were male. The age range of when HSP was diagnosed was one month to 34 years. Six of the patients' diagnoses were made, based on the family history of HSP in six patients and the remaining 31 patients' diagnoses were confirmed by genetic tests. The most common genetic mutations were SPG4 and SPG3A. Of the patients with positive genetic tests, 40% had no family history of HSP. SDR was performed at the age of 2 to 45 years (mean: 14.7 years). The follow-up period ranged from 0 to 33 years (mean: 3.8 years). One patient developed a spinal fluid leak requiring surgical repair. Two patients reported mild numbness in parts of the lower limbs. Spasticity was removed in 33 patients (89%). Four patients (11%) experienced a return in spasticity. Regarding ambulatory function, 11% of patients reported a decline in function. Two patients walked independently before surgery but declined, requiring a wheelchair eight years and seven years, respectively, after surgery for each patient. In contrast, 16% saw an improvement in ambulatory function, improving from walking with a walker to walking independently. The remaining 73% of patients maintained their level of ambulation. These two groups of patients showed improvement in other motor functions and independence. ConclusionsThe present analysis suggests the potential role of SDR in the management of spasticity in HSP patients. We found no sign of SDR being a direct cause of deleterious effects on patients with HSP.

Hereditary spastic paraplegia: Novel insights into the pathogenesis and management

“…It has also been explored for HSP patients. 130 In a study by Park et al, 130 37 HSP patients, with SPG4 and SPG3A being the most common genetic mutations, underwent SDR. The procedure successfully eliminated spasticity in almost 90% of the patients, enabling them to regain independence.…”

“…Although complications are rare, they can include spinal fluid leaks, mild lower limb numbness, and functional decline necessitating the use of a wheelchair ( Table 4 ). 130 …”

Selective Dorsal Rhizotomy in Treatment of Spasticity in Patients with Cerebral Palsy

“…Peacock и L.A. Staudt отмечали, что результаты СДР не столь выражены при коррекции спастичности иной этиологии (не ДЦП): аноксии, энцефалита и нейродегенеративных заболеваний [29]. Вместе с тем появляются публикации о положительном опыте применения СДР для коррекции спастичности, улучшения походки, баланса и поддержания позы, снижения болевого синдрома у пациентов со спастическим гемипарезом [30], а также о потенциальной возможности использования СДР для снижения спастичности при наследственной спастической параплегии [31]. При оценке влияния СДР на функциональные достижения и вероятность прогрессирования вторичных ортопедических деформаций результаты противоречивы [20,28] и будут более подробно обсуждены в следующих разделах данной статьи.…”

Treatment of <i>ZC4H2</i> Variant-Associated Spastic Paraplegia with Selective Dorsal Rhizotomy and Intensive Postoperative Rehabilitation: A Case Report

“…Currently, no definitive treatment exists for HSP (Meyyazhagan and Orlacchio 2022) ( Shribman et al 2019). Although several studies have investigated the role of SDR in HSP patients, its effectiveness in the management of HSP-related spasticity remains unclear (Park et al 2021) (Buizer et al 2017) (Gump et al 2013) (Kai et al 2014) (Sharma et al 2016). Here, we present a case of spastic paraplegia attributed to the ZC4H2 variant, which demonstrated improvement in motor function and gate after SDR and 6 months of postoperative rehabilitation.…”

“…SPG16, an X-linked spastic paraplegia, is a type of ZARD(Meyyazhagan and Orlacchio 2022). A recent study demonstrated a potential link between ZARDs and TRPV4-pathies, a broad spectrum of disease phenotypes caused by mutations in the TRPV4 gene(Vangeel et al 2020) Park et al (2021). investigated changes in spasticity and postoperative walking function in 37 HSP patients who underwent SDR at an average age of 14.7 years (range: 2-45 years).…”