Abstract：
BACKGROUND: Hereditary spastic paraplegia (HSP) include various sporadic and hereditary neurodegenerative disorders, characterized by progressive spasticity and weakness of lower limbs, possibly associated to additional features.
METHODS: We report a male HPS patient in his 40 s, showing mental retardation associated with language impairment, dysarthria, and increased urinary frequency. Three months after treatment with electric chronic high-frequency cervical spinal cord stimulation (HF-SCS), he showed an amelioration of motor symptoms (lower limbs spasticity and gait), dysarthria, cognitive functioning (language and constructive praxic abilities), and urinary symptoms (decreased urinary frequency). Single-photon emission computed tomography (SPECT) showed a postoperative increase of cerebral perfusion in right frontal cortex and temporal cortex bilaterally.
CONCLUSIONS: In our patient, HF-SCS might have induced an activation of ascending neural pathways, resulting in changes in activity in various cortical areas (including sensory-motor cortical areas), which may give rise to a modulation of activity in spared descending motor pathways and in neural networks involved in cognitive functions, including language. Although further studies in patients with HPS are needed to clarify whether HF-SCS can be a suitable treatment option in HSP, our observation suggests that HF-SCS, a minimally invasive neurosurgical procedure, might induce beneficial effects of on various symptoms of such orphan disease.
METHODS: We report a male HPS patient in his 40 s, showing mental retardation associated with language impairment, dysarthria, and increased urinary frequency. Three months after treatment with electric chronic high-frequency cervical spinal cord stimulation (HF-SCS), he showed an amelioration of motor symptoms (lower limbs spasticity and gait), dysarthria, cognitive functioning (language and constructive praxic abilities), and urinary symptoms (decreased urinary frequency). Single-photon emission computed tomography (SPECT) showed a postoperative increase of cerebral perfusion in right frontal cortex and temporal cortex bilaterally.
CONCLUSIONS: In our patient, HF-SCS might have induced an activation of ascending neural pathways, resulting in changes in activity in various cortical areas (including sensory-motor cortical areas), which may give rise to a modulation of activity in spared descending motor pathways and in neural networks involved in cognitive functions, including language. Although further studies in patients with HPS are needed to clarify whether HF-SCS can be a suitable treatment option in HSP, our observation suggests that HF-SCS, a minimally invasive neurosurgical procedure, might induce beneficial effects of on various symptoms of such orphan disease.
摘要：
背景：遗传性痉挛性截瘫（HSP）包括各种散发性和遗传性神经退行性疾病，以下肢进行性痉挛和无力为特征，可能与其他功能相关。
方法：我们报告了一名男性HPS患者，表现出与语言障碍相关的智力低下，构音障碍,尿频增加。慢性高频颈髓电刺激（HF-SCS）治疗后三个月，他表现出运动症状（下肢痉挛和步态）的改善，构音障碍,认知功能（语言和建设性的能力），和泌尿症状（尿频减少）。单光子发射计算机断层扫描（SPECT）显示术后右侧额叶皮质和颞叶皮质的脑灌注增加。
结论：在我们的患者中，HF-SCS可能诱导了上行神经通路的激活，导致各种皮质区域（包括感觉运动皮质区域）的活动发生变化，这可能会引起对免于下降的运动路径和参与认知功能的神经网络的活动的调节，包括语言。尽管需要对HPS患者进行进一步的研究来阐明HF-SCS是否是HSP的合适治疗选择，我们的观察表明HF-SCS,微创神经外科手术，可能会对这种孤儿疾病的各种症状产生有益的影响。
方法：我们报告了一名男性HPS患者，
结论：在我们的患者中，
