Spinal cord stimulation improves motor function and gait in spastic paraplegia type 4 (SPG4): Clinical and neurophysiological evaluation

Souza, Carolina Pinto; Coelho, Daniel Boari; Campos, Débora da Silva Fragoso de; Ghilardi, Maria Gabriela dos Santos; Vicente, Edrin Claro de Oliveira; González-Salazar, Carelis; França, Marcondes Cavalcante; Barsottini, Orlando Graziani Póvoas; Pedroso, José Luiz; Fonoff, Erich Talamoni

doi:10.1016/j.parkreldis.2020.12.008

Cited by 8 publications

(7 citation statements)

References 14 publications

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“…De Souza et al ( 8 ) reported a subject who underwent chronic spinal cord stimulation (SCS) implantation in the posterior epidural space of T11–T12. Alternating ON/OFF phases allowed studying the effect of SCS: improvements in muscle strength and spasticity and at SPRS were reported in ON phases.…”

Section: Resultsmentioning

confidence: 99%

“…Depending on the presence or absence of a family history of spastic paraparesis and the results of genetic testing, the disease is named HSP or SSP, as sporadic ( 6 ). The genetic basis of HSP is complex, with more than 70 known subtypes involving autosomal, dominant or recessive, and X-linked inheritance patterns ( 1 , 7 ), causing dysfunction of protein involved in intracellular trafficking or mitochondrial function ( 7 , 8 ). The age of symptom onset, rate of progression, and degree of disability are often variable among different genetic types of HSP, as well as within individual families having the same gene mutation ( 6 , 9 , 10 ).…”

Section: Introductionmentioning

confidence: 99%

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Gait analysis patterns and rehabilitative interventions to improve gait in persons with hereditary spastic paraplegia: a systematic review and meta-analysis

Faccioli,

Cavalagli,

Falocci

et al. 2023

Front. Neurol.

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BackgroundHereditary spastic paraplegias (HSPs) are a group of inheritance diseases resulting in gait abnormalities, which may be detected using instrumented gait analysis. The aim of this systematic review was 2-fold: to identify specific gait analysis patterns and interventions improving gait in HSP subjects.MethodsA systematic review was conducted in PubMed, Cochrane Library, REHABDATA, and PEDro databases, in accordance with reporting guidelines of PRISMA statement and Cochrane's recommendation. The review protocol was recorded on the PROSPERO register. Patients with pure and complicated HSP of any age were included. All types of studies were included. Risk of bias, quality assessment, and meta-analysis were performed.ResultsForty-two studies were included: 19 were related to gait analysis patterns, and 24 were intervention studies. The latter ones were limited to adults. HSP gait patterns were similar to cerebral palsy in younger subjects and stroke in adults. Knee hyperextension, reduced range of motion at knee, ankle, and hip, reduced foot lift, and increased rapid trunk and arm movements were reported. Botulinum injections reduced spasticity but uncovered weakness and improved gait velocity at follow-up. Weak evidence supported intrathecal baclofen, active intensive physical therapy (i.e., robot-assisted gait training, functional exercises, and hydrotherapy), and functional electrical stimulation. Some improvements but adverse events were reported after transcranial magnetic stimulation, transcutaneous spinal direct current stimulation, and spinal cord stimulation implant.ConclusionKnee hyperextension, non-sagittal pelvic movements, and reduced ROM at the knee, ankle, and hip represent the most peculiar patterns in HSP, compared to diplegic cerebral palsy and stroke. Botulinum improved comfortable gait velocity after 2 months. Nonetheless, interventions reducing spasticity might result in ineffective functional outcomes unveiling weakness. Intensive active physical therapy and FES might improve gait velocity in the very short term.

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Section: Resultsmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Gait analysis patterns and rehabilitative interventions to improve gait in persons with hereditary spastic paraplegia: a systematic review and meta-analysis

Faccioli,

Cavalagli,

Falocci

et al. 2023

Front. Neurol.

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“…It indicates that the motor neurons and motor pathways associated with the upper extremity muscles were activated, which may make the upper extremity motions more flexible and indirectly create favorable conditions for improving the patient's walking stability. Previous studies suggested that the activity motor cortical areas might improve gait by inducing activity modulation of spared descending motor pathways ( 38 , 39 ). Furthermore, a slight decrease in CMCT in the upper extremities compared to the pre-treatment indicates an increase in the conduction velocity of upper motor neurons, which may reflect improved axonal performance in the fast-conducting fibers of corticospinal neurons ( 40 ).…”

Section: Discussionmentioning

confidence: 99%

Case report: High-frequency repetitive transcranial magnetic stimulation for treatment of hereditary spastic paraplegia type 11

Chen,

Zhou,

Ren

et al. 2023

Front. Neurol.

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Hereditary spastic paraplegia (HSP) is a heterogeneous group of inherited neurodegenerative disorders that currently have no cure. HSP type 11 (SPG11-HSP) is a complex form carrying mutations in the SPG11 gene. Neuropathological studies demonstrate that motor deficits in these patients are mainly attributed to axonal degeneration of the corticospinal tract (CST). Repetitive transcranial magnetic stimulation (rTMS) is a non-invasive technique that can induce central nervous system plasticity and promote neurological recovery by modulating the excitability of cortical neuronal cells. Although rTMS is expected to be a therapeutic tool for neurodegenerative diseases, no previous studies have applied rTMS to treat motor symptoms in SPG11-HSP. Here, we report a case of SPG11-HSP with lower extremity spasticity and gait instability, which were improved by applying high-frequency rTMS (HF-rTMS) at the primary motor cortex (M1). Clinical and physiological features were measured throughout the treatment, including the Modified Ashworth Scale (MAS), Berg Balance Scale (BBS), the timed up and go (TUG) test and the 10-meter walk test time (10 MWT). The structure and excitability of the CST were assessed by diffusion tensor imaging (DTI) and transcranial magnetic stimulation (TMS), respectively. After treatment, the patient gained 17 points of BBS, along with a gradual decrease in MAS scores of the bilateral lower extremity. In addition, the TUG test and 10 MWT improved to varying degrees. TMS assessment showed increased motor evoked potential (MEP) amplitude, decreased resting motor threshold (RMT), decreased central motor conduction time (CMCT), and decreased difference in the cortical silent period (CSP) between bilateral hemispheres. Using the DTI technique, we observed increased fractional anisotropy (FA) values and decreased mean diffusivity (MD) and radial diffusivity (RD) values in the CST. It suggests that applying HF-rTMS over the bilateral leg area of M1 (M1-LEG) is beneficial for SPG11-HSP. In this study, we demonstrate the potential of rTMS to promote neurological recovery from both functional and structural perspectives. It may provide a clinical rationale for using rTMS in the rehabilitation of HSP patients.

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“…Loss of function and consequent haploinsu ciency have been the most plausible pathogenic mechanisms to explain HSP-SPG4 onset, truncating mutations are the most frequent cause of HSP-SPG4, it predominantly affect the enzymatic activity of the spastin domain, thus reducing its ATPase activity. Moreover, it was shown that missense mutations outside the AAA domain lead the M1 isoform of spastin to negatively interact with spastin-M87, diminishing its microtubule-severing activity [27][28][29] .…”

Section: Discussionmentioning

confidence: 99%

“…Botulinum toxin type A and intensive physiotherapy can lead to improvement of spasticity and quality of life in patients with HSP-SPG4 [33] . The electrical stimulation of spinal nerve has a positive effect on improving weakness and spastic gait in SPG4 patients [29] . Selective dorsal rhizotomy is currently recognized as the most effective method for lasting relief of limb spasm, reducing the risk of disuse muscular atrophy of SPG4 patients [34] .…”

Section: Declarations Fundingmentioning

confidence: 98%

A SPAST gene-related hereditary spastic paraplegia type 4 family: Identification by a novel mutation

Zhang

wang

2022

Preprint

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Objective: The aim of this study was to confirm the disease causing of a family with hereditary spastic paraplegia. Methods: Detailed clinical characterization analysis was undertake in the HSP family, taking peripheral blood sample from the 9 subjects for the extraction of genomic DNA and the proband underwent next generation sequencing. Potentially causative variants were identified by Sanger sequencing and multiplex ligation-dependent probe amplification. Results: In this study, we obtained clinical and genetic findings in the family with HSP. There were four generations including 47 members, and ten affected members displayed pure HSP, they showed clinical phenotyping that varied in their severity. Gene sequencing suggested that the proband has carried a novel heterozygous variant c.1057_1058insCC in the SPAST gene, and the same mutation was identified in other affected family members.Conclusions: Here, we showed a family with pure autosomal dominant HSP type 4(SPG4). The novel mutation c.1057_1058insCC of SPAST is the causative variant in this HSP-SPG4 family. And the persent study expands the mutation spectrum of SPAST and provides an opportunity to study the genotype-phenotype correlation in SPG4.

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Spinal cord stimulation improves motor function and gait in spastic paraplegia type 4 (SPG4): Clinical and neurophysiological evaluation

Cited by 8 publications

References 14 publications

Gait analysis patterns and rehabilitative interventions to improve gait in persons with hereditary spastic paraplegia: a systematic review and meta-analysis

Gait analysis patterns and rehabilitative interventions to improve gait in persons with hereditary spastic paraplegia: a systematic review and meta-analysis

Case report: High-frequency repetitive transcranial magnetic stimulation for treatment of hereditary spastic paraplegia type 11

A SPAST gene-related hereditary spastic paraplegia type 4 family: Identification by a novel mutation

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