Intrathecal baclofen therapy for the symptomatic treatment of hereditary spastic paraplegia

Margetis, Konstantinos; Korfias, Stefanos; Boutos, Nikolaos; Gatzonis, Stylianos; Themistocleous, Marios; Siatouni, Anna; Dalivigka, Zoi; Flaskas, Theofanis; Stranjalis, George; Boviatsis, Efstathios; Sakas, Damianos E.

doi:10.1016/j.clineuro.2014.05.024

Cited by 46 publications

(44 citation statements)

References 16 publications

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“…Most HSP patients are still able to work even after long disease duration. Therefore ITB therapy in HSP has the special requirement of reducing spasticity but preserving gait function 160,161 . ITB can be administered via a surgically implanted programmable pump.…”

Section: Treatment Of Hsp and Future Therapeutic Perspectivesmentioning

confidence: 99%

“…ITB can be administered via a surgically implanted programmable pump. HSP patients that undergo an intrathecal baclofen pump implantation have to be carefully selected by applying one or several preoperative ITB testing dosis 160,161 In HSP patients with an identified mutation the socio-medical assistance in terms of familial counseling, especially for the risk of transmission and questions dealing with prenatal and presymptomatic testing, is also an important issue for the attending neurologist and/or geneticist.…”

Section: Treatment Of Hsp and Future Therapeutic Perspectivesmentioning

confidence: 99%

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Clinical and genetic heterogeneity in hereditary spastic paraplegias: From SPG1 to SPG72 and still counting

2015

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Section: Treatment Of Hsp and Future Therapeutic Perspectivesmentioning

confidence: 99%

Section: Treatment Of Hsp and Future Therapeutic Perspectivesmentioning

confidence: 99%

Clinical and genetic heterogeneity in hereditary spastic paraplegias: From SPG1 to SPG72 and still counting

2015

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“…On neurological examination, the ankle clonus and Babinski sign were no longer present, but the deep tendon reflexes of the legs were hyperactive. Baclofen is a GABA-B autoreceptor agonist that has been used to treat spasticity [21] and dystonia [22], and trihexyphenidyl is an anticholinergic agent that has proven effective for the symptomatic treatment of dystonia in young patients [23]. Furthermore, Almeida GL et al reported an 11-year-old boy with spastic diplegia cerebral palsy and found that ankle clonus and Babinski reflexes could be decreased during balofen administration [24].…”

Section: Resultsmentioning

confidence: 99%

A case of rapid-onset dystonia-parkinsonism accompanied by pyramidal tract impairment

Lü

Zhang

et al. 2016

BMC Neurol

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BackgroundRapid-onset dystonia-parkinsonism (RDP) is a rare autosomal dominant disorder that is caused by mutations in the ATP1A3 gene and is characterized by an acute onset of asymmetric dystonia and parkinsonism. To date, fewer than 75 RDP cases have been reported worldwide. Clinical signs of pyramidal tract involvement have been reported in several RDP cases, and none of them included the Babinski sign.Case presentationWe report a 24-year-old Chinese female with RDP who exhibited a strikingly asymmetric, predominantly dystonic movement disorder with a rostrocaudal gradient of involvement and parkinsonism. Physical examiniations revealed hyperactive reflexes, bilateral ankle clonus and positive Babinski sign in the right. DTI showed reduced white matter integrity of the corticospinal tract in the frontal lobe and subpontine plane. Genetic testing revealed a missense mutation of the ATP1A3-gene (E277K) in the patient.ConclusionWe suggest that pyramidal tract impairment could be involved in rapid-onset dystonia-parkinsonism and the pyramidal tract impairment in RDP needs to be differentiated from HSP.Electronic supplementary materialThe online version of this article (doi:10.1186/s12883-016-0743-8) contains supplementary material, which is available to authorized users.

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“…1. The first search located eight articles that met the inclusion criteria and assessed functional mobility in people with HSP 30–36,37 . The second search identified 28 articles that focused on the psychometric properties of the tools determined during the first search.…”

Section: Resultsmentioning

confidence: 99%

Psychometric properties of functional mobility tools in hereditary spastic paraplegia and other childhood neurological conditions

Adair

Said

Rodda

et al. 2012

Develop Med Child Neuro

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AIM To evaluate studies on the psychometric properties of measurement tools used to quantify functional mobility in children with hereditary spastic paraplegia (HSP) and other childhood neurological conditions.METHOD Two independent reviewers identified measures previously used by clinicians to quantify functional mobility. Because our primary interest was HSP, the first search identified measurement tools in studies that included those with HSP. To enhance the generalizability, the second search examined the reliability, validity, and responsiveness of tools in children with a range of neurological conditions such as cerebral palsy, spinal muscular atrophy, Down syndrome, and traumatic brain injury. The Consensus-based Standards for the Selection of Health Measurement Instruments was used to rate the methodological quality of identified articles. RESULTSThe Gillette Functional Assessment Questionnaire (FAQ), the Functional Mobility Scale (FMS), the Gross Motor Function Measure (GMFM), the Rivermead Motor Assessment, and the Walking Index for Spinal Cord Injury II were identified for quantifying functional mobility. The FMS and GMFM were reliable, valid, and responsive to changes across a range of childhood neurological conditions. The FAQ was reliable and valid for measuring functional mobility in similar populations.INTERPRETATION The FAQ, FMS, and GMFM are valid, reliable, and responsive measures in children with a range of neurological conditions. This paper reports the results of a systematic review and critical evaluation of the literature on the psychometric properties of measurement tools used to quantify functional mobility in children with hereditary spastic paraplegia (HSP) and other childhood neurological conditions. HSP is a genetic condition associated with progressive lower-limb spasticity and weakness and a disturbance in gait. [1][2][3][4] Clinically, children and adolescents with HSP are seen to have limitations in functional mobility. Consensus has not yet been reached about the most appropriate methods to quantify changes in functional mobility or the psychometric properties of measurement tools in children with this condition. Despite reports that HSP is progressive, 1-3 few studies have investigated longitudinal changes in mobility in children with this condition. To quantify functional mobility in children with HSP accurately and to enable accurate measurement of changes over time, it is necessary to understand which measurement tools are reliable, valid, and responsive to change.The primary aims of this study were to (1) identify measurement tools used in the literature to assess functional mobility in people with HSP, (2) identify and critically evaluate studies that assessed the psychometric properties of these tools, and (3) give recommendations about the most suitable tools to quantify longitudinal changes in functional mobility in HSP and other childhood neurological conditions. Owing to the small yield of articles related to HSP, we decided to expand our search criteria and included...

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Intrathecal baclofen therapy for the symptomatic treatment of hereditary spastic paraplegia

Cited by 46 publications

References 16 publications

Clinical and genetic heterogeneity in hereditary spastic paraplegias: From SPG1 to SPG72 and still counting

Clinical and genetic heterogeneity in hereditary spastic paraplegias: From SPG1 to SPG72 and still counting

A case of rapid-onset dystonia-parkinsonism accompanied by pyramidal tract impairment

Psychometric properties of functional mobility tools in hereditary spastic paraplegia and other childhood neurological conditions

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