Hereditary Spastic Paraparesis Research Articles

Gastrointestinal and urinary complaints in adults with hereditary spastic paraparesis

BackgroundHereditary spastic paraparesis (HSP) is a group of rare genetic disorders affecting the central nervous system. Pure HSP is limited to lower limb spasticity and urinary voiding dysfunction. Complex HSP involves additional neurological features. Beyond the described core symptoms, knowledge about the burden of disease for adults with HSP is limited, particularly regarding gastrointestinal functions, fecal incontinence, and urinary symptoms.MethodsWe conducted a cross-sectional self-report survey with 108 adult HSP patients (Mage = 57.7 years, SD = 11.5, range 30 to 81; 54.2% females) recruited from a national HSP user group association and a national (non-clinical) advisory unit for rare disorders. HSP data was compared to data from a Norwegian population study, HUNT-3 (N = 46,293).ResultsThe HSP group reported more gastrointestinal and urinary complaints compared to controls. Gastrointestinal complaints included at least “much” complaints with constipation (14.6%) and alternating constipation/diarrhea (8.0%), and at least daily uncontrollable flatulence (47.6%), fecal incontinence (11.6%), and inability to hold back stools (38.5%). Urinary complaints included frequent urination (27.4% > 8 times daily), sudden urge (51.9%) and urinary incontinence (30.5% at least daily/nightly).ConclusionThis survey of adults with HSP recruited from non-clinical settings showed constipation, alternate constipation and diarrhea, fecal incontinence, and voiding dysfunction represent considerable problems for many persons with HSP. Health care providers should screen and manage often unrecognized gastrointestinal and fecal incontinence complaints among HSP patients.

CAPN1: novel mutations expanding the phenotype of hereditary spastic paraparesis. (P6.039)

CAPN1: novel mutations expanding the phenotype of hereditary spastic paraparesis. (P6.039)

Toe Walking: A Neurological Perspective After Referral From Pediatric Orthopaedic Surgeons.

Toe walking (TW) in children is often idiopathic in origin. Our purpose was to determine the incidence of a neurological etiology for TW in patients seen in the neurology clinic after referral from pediatric orthopaedic surgeons. We performed an Institutional Review Board approved retrospective review of 174 patients referred to the neurology clinic from orthopaedic surgeons at an academic pediatric tertiary care center between January 2010 and September 2015. Medical records were reviewed and data recorded including pertinent family history, birth history, age of initial ambulation, physical examination findings, and workup results including neuroimaging, neurophysiological studies, and findings of genetic testing and tissue biopsy. Sixty-two percent (108/174) of patients were found to have a neurological etiology for TW. Final pathologic diagnoses were: 37% (40/108) previously undiagnosed cerebral palsy (CP), 16.7% (18/108) peripheral neuropathy, 15.7% (17/108) autism spectrum disorder, 13.9% (15/108) hereditary spastic paraparesis, 8.3% (9/108) attention deficit hyperactivity disorder, 5.6% (6/108) syndromic diagnosis, and 2.8% (3/108) spinal cord abnormality. Ankle equinus contractures were noted in idiopathic and neurological patients and did not indicate a pathologic origin. Seventy-one percent of unilateral toe walkers and 32% of bilateral but asymmetric toe walkers were diagnosed with CP (P<0.001). Twenty-six percent of 145 brain magnetic resonance imaging studies diagnosed CP. Of the 125 (72%) with spinal imaging, 3 had spinal pathology to account for TW. Fourteen percent of 87 subjects with an electromyography/nerve conduction study had abnormal results indicating a peripheral polyneuropathy. An underlying pathologic diagnosis was found in 62% of patients referred to neurology for TW. A concerning birth history, delayed initial ambulation, unilateral TW, upper or lower motor neuron signs on examination, or behavioral features may suggest a pathologic diagnosis. Ankle contracture is not predictive of an abnormal diagnosis and can be found in idiopathic patients. CP, peripheral neuropathy, autism spectrum disorder, and hereditary spastic paraparesis are the most common pathologic diagnoses identified in our population. Level III-retrospective cohort.

ALS Mimics

AbstractAmyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease. Most patients die within 2–5 years of symptom onset due to the lack of effective therapy options. A diagnostic delay is encountered quite often, since disease progression as well as site and speed of onset may vary significantly. Some diseases can mimic features of ALS, especially in early stages. It is very important to differentiate those mimics from ALS as potentially treatable conditions might be missed otherwise. ALS typically affects the upper as well as the lower motor neuron, which implies that diseases sharing at least one of these clinical features have to be considered in the differential diagnosis. The following conditions should be taken into account as a differential diagnosis for ALS with predominant affection of the lower motor neuron: Immune mediated neuropathies such as multifocal motor neuropathy (MMN) with pronounced distal paresis without striking atrophy signs and conduction blocks in electroneurography, and chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) with common signs of sensibility disturbances, areflexia and cytoalbuminologic dissociation in the cerebrospinal fluid (CSF). Sporadic inclusion body myositis (sIBM) with typical biopsy findings and clinically predominant affection of the finger flexors. Spinal and bulbar muscular atrophy (SBMA), in which androgen receptor (AR-)gene testing and clinical signs of androgen insensitivity will help to differentiate the disease from ALS. Hirayama disease shows cold paresis; a cervical MRI scan and a normal neurography will help to confirm the diagnosis. In benign fasciculation syndrome, there is no muscle paresis or atrophy, and acute denervation cannot be detected in the EMG. In spinal muscular atrophy (SMA), testing for the SMN gene will help to differentiate the condition from ALS; furthermore, SMA is a very rare disease in adults. As a differential diagnosis for ALS with both clinical affection of the upper and lower motor neuron e. g. metabolic diseases such as adrenoleukodystrophy, metachromatic leukodystrophy and Tay-Sachs disease should be taken into account. Here, laboratory tests are the most important steps for a correct diagnosis. Cervical myelopathy is also capable of affecting the upper and lower motor neuron, but can easily be differentiated by a cervical MRI scan. As a differential diagnosis of ALS with predominant affection of the upper motor neuron, we discuss hereditary spastic paraparesis (HSP) which presents with a symmetric spasticity of the legs. The MRI often shows atrophy of the spinal cord, and SPG gene testing is done to differentiate HSP from ALS.

Effects of superficial heating and insulation on walking speed in people with hereditary and spontaneous spastic paraparesis: A randomised crossover study

ObjectivesCooling of the lower limb in people with Hereditary and Spontaneous Spastic Paraparesis (pwHSSP) has been shown to affect walking speed and neuromuscular impairments. The investigation of practical strategies, which may help to alleviate these problems is important. The potential of superficial heat to improve walking speed has not been explored in pwHSSP. Primary objective was to explore whether the application of superficial heat (hot packs) to lower limbs in pwHSSP improves walking speed. Secondary objective was to explore whether wearing insulation after heating would prolong any benefits. MethodsA randomised crossover study design with 21 pwHSSP. On two separate occasions two hot packs and an insulating wrap (Neo-G™) were applied for 30minutes to the lower limbs of pwHSSP. On one occasion the insulating wrap was maintained for a further 30minutes and on the other occasion it was removed. Measures of temperature (skin, room and core), walking speed (10 metre timed walk) and co-ordination (foot tap time) were taken at baseline (T1), after 30 mins (T2) and at one hour (T3). ResultsAll 21 pwHSSP reported increased lower limb stiffness and decreased walking ability when their legs were cold. After thirty minutes of heating, improvements were seen in walking speed (12.2%, P<0.0001, effect size 0.18) and foot tap time (21.5%, P<0.0001, effect size 0.59). Continuing to wear insulation for a further 30minutes gave no additional benefit; with significant improvements in walking speed maintained at one hour (9.9%, P>0.001) in both conditions. ConclusionsApplication of 30minutes superficial heating moderately improved walking speed in pwHSSP with effects maintained at 1hour. The use of hot packs applied to lower limbs should be the focus of further research for the clinical management of pwHSSP who report increased stiffness of limbs in cold weather and do not have sensory deficits.

Mutations in SPG7 as an important cause of spastic-ataxia in a large british cohort: Hybrid phenotype helps direct screening

Background: Hereditary spastic paraparesis (HSP) and hereditary cerebellar ataxias (HCA) are two groups of neurodegenerative conditions which have an overlap phenotype. HSP is classically defined as progressive lower limb predominant spasticity and pyramidal weakness and idiopathic cerebellar ataxia is a group of conditions traditionally defined after extensive metabolic, autoimmune and various genetic work up with no obvious explanation. Exome-sequencing will help pinpointing genetic variations, these methods are costly and not readily accessible to most clinicians.

Case series of autosomal recessive hereditary spastic paraparesis with novel mutation in SPG 7 gene

Autosomal recessive hereditary spastic paraparesis is rare.We present 4 patients with slowly progressive predominantly lower limb spasticity and ataxia. Only one patient had family history of ataxia but without any underlying diagnosis. All of them proved negative for the mutation of Spinocerebelalr ataxia genes SCA 1,2,3 and 6. All had mutation in the SPG 7 gene suggestive of autosomal recessive hereditary spastic paraparesis. One of the heterozygous mutatnts showed a novel c1617delC, p(Val540fs) frameshift mutation in exon 12 of the SPG 7 gene. SPG7 mutation accounts for 1.5-7% of all the HSP but it is the cause of undiagnosed ataxia in 18.6% in a recent case series. SPG7 mutation should be remembered as an important cause of undiagnosed ataxia especially where next generation sequencing is not widely avaialbale or affordable.

Increased lower limb muscle coactivation reduces gait performance and increases metabolic cost in patients with hereditary spastic paraparesis

BackgroundThe aim of this study was to investigate the lower limb muscle coactivation and its relationship with muscles spasticity, gait performance, and metabolic cost in patients with hereditary spastic paraparesis. MethodsKinematic, kinetic, electromyographic and energetic parameters of 23 patients and 23 controls were evaluated by computerized gait analysis system. We computed ankle and knee antagonist muscle coactivation indexes throughout the gait cycle and during the subphases of gait. Energy consumption and energy recovery were measured as well. In addition to the correlation analysis between coactivation indexes and clinical variables, correlations between coactivation indexes and time–distance, kinematic, kinetic, and energetic parameters were estimated. FindingsIncreased coactivity indexes of both knee and ankle muscles throughout the gait cycle and during the subphases of gait were observed in patients compared with controls. Energetic parameters were significantly higher in patients than in controls. Both knee and ankle muscle coactivation indexes were positively correlated with knee and ankle spasticity (Ashworth score), respectively. Knee and ankle muscle coactivation indexes were both positively correlated with energy consumption and both negatively correlated with energy recovery. InterpretationPositive correlations between the Ashworth score and lower limb muscle coactivation suggest that abnormal lower limb muscle coactivation in patients with hereditary spastic paraparesis reflects a primary deficit linked to lower limb spasticity. Furthermore, these abnormalities influence the energetic mechanisms during walking. Identifying excessive muscle coactivation may be helpful in individuating the rehabilitative treatments and designing specific orthosis to restrain spasticity.

Spastic paraplegia with crystalline retinopathy: A recognisable phenotype?

Objective: Genetic diagnosis of hereditary spastic paraparesis (HSP) is often challenging because of lack of typical clinical or biochemical abnormalities. Case: An eight year old girl presented at the consultation with severe spastic paraparesis which had developed slowly over the last two years. More recently, a tremor in the hand became apparent. Perinatal history was unremarkable and early milestones were reached within normal limits. Cognitive functioning was normal. Dysmorphic features and skin lesions were not seen. Cerebral MRI and MRI of the spine were normal. Work-up was done for hereditary spastic paraparesis. Results: Fundoscopy showed a crystalline retinopathy as is typically seen in Sjögren-Larsson syndrome. As ichtyosis was absent in this patient we performed MRI spectroscopy, which did not reveal the abnormal lipid peak as seen in Sjögren-Larsson syndrome. Whole exome sequencing was performed and pathogenic mutations were not detected in ALDH3A2 nor in any other gene related to HSP. However, mutations where detected in an other gene related to aldehyde metabolism. Conclusion: Spastic paraplegia and crystalline retinopathy might be a new recognisable phenotype of HSP. We are looking for additional subjects to validate candidate genes.

Diagnostic Challenges in Pediatric Onset Hereditary Spastic Paraparesis (HSP) (P4.164)

Diagnostic Challenges in Pediatric Onset Hereditary Spastic Paraparesis (HSP) (P4.164)

Article update.

The Journal of PhysiologyVolume 595, Issue 11 p. 3679-3679 Article updateFree Access Article update This article corrects the following: Spinal inhibition and motor function in adults with spastic cerebral palsy E. G. Condliffe, D. T. Jeffery, D. J. Emery, M. A. Gorassini, Volume 594Issue 10The Journal of Physiology pages: 2691-2705 First Published online: March 17, 2016 First published: 26 March 2017 https://doi.org/10.1113/JP273893 Linked articles: This article updates an earlier article by Condliffe et al. To read this article, visit https://doi.org/10.1113/JP271886. AboutSectionsPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Share a linkShare onFacebookTwitterLinkedInRedditWechat Following the publication of Condliffe et al. 2016, a participant with cerebral palsy (CP-7) was considered for re-diagnosis to Hereditary Spastic Paraparesis after her child presented with similar bilateral, lower-extremity spastic motor impairments. Motor unit (PSF) profiles during cutaneomuscular reflexes were not included for participant CP-7, but data for surface EMG responses were reanalysis of the surface EMG data with CP-7 excluded revealed that differences between the CP and NI groups remained significant. In addition, the association between spinal inhibition (I1max and I1ave) and motor function (GMFCS, FMSTOTAL and MVC) within the CP group also remained significant with similar correlation coefficients. Updated values for Table 2 are presented below with changes underlined. The original values are also presented for comparison. We also noted that there was a mistake in our transposition of some values for I1 onset and cutaneomuscular reflex termination which are also now corrected and underlined. Updated Table 2: changes underlined Reflex components CP NI P-value I1max −35.9 −69.5 <0.001 (Δ % BKD EMG) (−66.7 – 68.0) (−87.7 – −30.3) I1ave −26.1 −48.6 0.001 (Δ % BKD EMG) (−46.3 – 0.0) (−63.6 – −21.7) I1 onset (ms) 52.8 57.4 0.40 (40.7 – 76.6) (43.3 – 70.9) Cutaneomuscular reflex termination (ms) 292.1 290.4 0.90 (175.0 – 672.6) (186.8 – 449.1) Original Table 2 for comparison: Reflex components CP NI P-value I1max −36.1 −69.5 <0.001 (Δ % BKD EMG) (−66.7 – 68.0) (−87.7 – −30.3) I1ave −26.4 −48.6 0.001 (Δ % BKD EMG) (−46.3 – 0.0) (−63.6 – −21.7) I1 onset (ms) 58.4 57.4 0.98 (40.7 – 60) (43.3 – 70.9) Cutaneomuscular reflex termination (ms) 286 273 0.30 (89 – 825) (152 – 449) Reference Condliffe EG, Jeffery DT, Emery DJ & Gorassini MA (2016). Spinal inhibition and motor function in adults with spastic cerebral palsy. J Physiol 594, 2691– 2705. Volume595, Issue111 June 2017Pages 3679-3679 ReferencesRelatedInformation

P183 Transcranial direct current stimulation improves sleep quality

Introduction Sleep disturbance has been recognized as a common and significant complication linked to decreased quality of life in patients with neuropsychiatric disease. Currently, pharmacological therapy is the most common treatment for sleep disturbance, although benefits tend to be limited. Objective We assessed whether transcranial direct current stimulation (tDCS) improves sleep quality in patients with neurological and psychiatric diseases. Materials & methods 26 neuropsychiatric patients (age 19–86, n = 2 stroke, n = 4 dysphagia, n = 3 pain, n = 8 hereditary spastic paraparesis, n = 4 Parkinson’s disease, n = 2 aphasia, n = 3 depression) underwent tDCS treatment. tDCS montage was different for each pathology. The intensity of stimulation was set at 2 mA and delivered for 20 min for 5 consecutive days. The Pittsburgh Sleep Quality Index (PSQI) ( Buysse, 1989 ) was used to assess sleep quality at baseline (T0) and after the tDCS treatment (T1). Results One way ANOVA analysis showed that anodal tDCS improved PSQI total score by 13% [(mean ± SD) T0: 6.3 ± 4 vs T1: 5 ± 3.6; p = 0.004] and PSQI sub-item scores subjective quality of sleep by 22% (T0: 1.1 ± 0.7 vs T1: 0.92 ± 0.68; p = 0.016) and habitual sleep efficiency by 17% (T0: 0.31 ± 0.67 vs T1: 0.04 ± 0.19 p = 0.031). No differences were found between pathology. Conclusion Despite the small sample size and different tDCS montages, data from our observational study showed that anodal tDCS for five days improved sleep quality and efficiency. tDCS could be a non-invasive and valuable new tool for managing sleep disorders.

Thin corpus callosum as a diagnostic marker for hereditary spastic paraparesis due to mutations in the SPG11 gene: a case report

Background: Hereditary spastic paraparesis (HSP) is a rare neurodegenerative condition that results in gradual deterioration of lower limb function due to spastic weakness. It can manifest at any age and predominantly presents as gait abnormalities especially tip toe walking. They are classified as simple or complicated based on additional clinical/neurological symptoms apart from lower limb involvement. These are genetically heterogeneous disorders with mutations discovered in more than 50 genes. The association of thin corpus callosum (TCC) along with clinical features of spastic paraplegia is particularly described in mutations of SPG11 gene. Case presentation: We describe two unrelated cases of childhood onset HSP-TCC associated with mutations in exon16 and exon 28: exon 30 respectively. Both these patients also have associated learning difficulties. Conclusion: The constellation of clinical symptoms and MRI findings led to targeted genetic testing and subsequent identification of their diagnosis.

Gait Patterns in Patients with Hereditary Spastic Paraparesis.

BackgroundSpastic gait is a key feature in patients with hereditary spastic paraparesis, but the gait characterization and the relationship between the gait impairment and clinical characteristics have not been investigated.ObjectivesTo describe the gait patterns in hereditary spastic paraparesis and to identify subgroups of patients according to specific kinematic features of walking.MethodsWe evaluated fifty patients by computerized gait analysis and compared them to healthy participants. We computed time-distance parameters of walking and the range of angular motion at hip, knee, and ankle joints, and at the trunk and pelvis. Lower limb joint moments and muscle co-activation values were also evaluated.ResultsWe identified three distinct subgroups of patients based on the range of motion values. Subgroup one was characterized by reduced hip, knee, and ankle joint range of motion. These patients were the most severely affected from a clinical standpoint, had the highest spasticity, and walked at the slowest speed. Subgroup three was characterized by an increased hip joint range of motion, but knee and ankle joint range of motion values close to control values. These patients were the most mildly affected and had the highest walking speed. Finally, subgroup two showed reduced knee and ankle joint range of motion, and hip range of motion values close to control values. Disease severity and gait speed in subgroup two were between those of subgroups one and three.ConclusionsWe identified three distinctive gait patterns in patients with hereditary spastic paraparesis that correlated robustly with clinical data. Distinguishing specific features in the gait patterns of these patients may help tailor pharmacological and rehabilitative treatments and may help evaluate therapeutic effects over time.

A Novel c.4822&gt;T Mutation on SPG11 in an Iranian Patient Marked by Hereditary Spastic Paraparesis and Skeletal Deformity: An Incidental Finding or a True Association

Article type: Case Report Hereditary spastic paraplegias are highly heterogeneous neurodegenerative disorders with some special mutations. We report on a patient with pescavus, distal a myotrophy, hyper extended fingers, and pectus excavatum. Neurological examination showed that he had proximal lower limbs weakness with a positive Gower sign, exaggerated lower limbs deep tendon reflexes with spasticity, distal muscle was ting, bilateral horizontal nystagmus (direction change), and positive Romberg sign. A novel mutation in SPG11/spatacsin was detected through genetic analysis. Magnetic resonance imaging showed normal whole spine and brain anatomy.

What's in the Literature?

The Guillain-Barré syndrome (GBS) is one of the few neuropathies well known to the general public, in part because of its association with swine flu vaccinations in 1976. GBS has again reached the general public with its possible association with Zika virus. The virus, borne by infected Aedes aegypti mosquitos, is being linked to birth defects when pregnant women are bitten and infected. There are early reports also linking GBS to Zika infection, which could expose a wider range of infected people to the neuropathy. This summer infected Aedes mosquitos will likely reach southern portions of the United States, and travelers to countries where Aedes is endemic will increase. It is important to appreciate that the neurologic consequences of Zika virus are being actively investigated, and firm associations and consequences are yet to be established. Small fiber neuropathies are common and can be due to a number of underlying diseases, and a recent review also indicates that many are idiopathic. One cause is Sjögren syndrome, and a case series reviews clinical features. The diagnosis and underlying features of primary lateral sclerosis are a clinical challenge. Similarities between primary lateral sclerosis and hereditary spastic paraparesis (HSP) have long been noted. With a wide spectrum of gene mutations associated with HSP, clinical distinction between the 2 disorders is problematic. A review covers the wide spectrum of HSP. With no cure, the progression of amyotrophic lateral sclerosis (ALS) to respiratory failure is predictable. This could easily result in marked depression among patients, and 2 studies have explored the frequency and severity of depression. The cause of ALS remains unknown, and when no hereditary factor is apparent, environmental questions arise as possible contributing factor(s). The most notable association is with military service, although specific occupational or environmental linkages are not well sorted out. Two recent reports address these issues. There is good news for ALS patients with muscle cramps with the results of a multicenter randomized and placebo-controlled trial showing that mexiletine is effective in reducing this common symptom. The treatment of myasthenia gravis with various agents, the use of patient-reported outcome measures in myasthenia gravis, and the occurrence of myocarditis in this disease are reviewed. Necrotizing autoimmune neuropathies, the co-occurrence of inclusion body myositis and a form of T-cell leukemia are discussed as are valosin-containing protein (VCP)-opathy and bone health in patients with dystrophinopathy.

Gait Deviation Index and functional disability rating scale in subjects with hereditary spastic paraparesis

Gait Deviation Index and functional disability rating scale in subjects with hereditary spastic paraparesis

Health survey of adults with hereditary spastic paraparesis compared to population study controls

BackgroundHereditary spastic paraparesis (HSP) is a rare neurodegenerative condition characterized by slowly progressive spastic weakness of the lower limbs and urinary sphincter dysfunction. Complex HSP involves additional neurologic symptoms and signs like ataxia, extra pyramidal signs, polyneuropathy, and cognitive decline. Little is known about the disease burden for adults with HSP beyond the described core symptoms.MethodsA cross-sectional survey of 108 adults aged 30 years and older (Mage = 57.7 years, SD = 11.5, range 30 to 81; 54.2 % females) recruited from a national center of expertise for rare disorders and a patient advocacy organization in Norway. Self-report data from the HSP sample was compared to self-report data from a large Norwegian population study, HUNT3 (N = 46,293), covering health-related variables such as overall life satisfaction, mental wellbeing, memory function, perceived pain, and co-morbid diseases. In addition, the HSP sample reported specific items developed for this study in co-operation with the patient advocacy organization.ResultsThe HSP sample more frequently lived alone. Overall, the HSP sample reported lower life satisfaction, lower mental wellbeing and lower social support, as well as poorer memory and sleep, compared to controls. Furthermore, the HSP sample more frequently reported musculoskeletal pain, constipation, and urinary incontinence compared to controls. There was no difference between samples in frequency of physical activity and alcohol and tobacco use. Men with HSP reported higher impact of HSP, lower life satisfaction, and less ability to perform activities of daily living compared to women with HSP.ConclusionsAdults with HSP experience disease burden on a larger number of areas than previously documented, and men with HSP may represent a particularly vulnerable group.

Selective dorsal rhizotomy for hereditary spastic paraparesis in children.

The aim of this study was to determine the outcomes for children who underwent selective dorsal rhizotomy (SDR) for the treatment of spasticity related to spinal pathology. We performed a retrospective review of all cases of SDR at our institution over the last 30years and identified patients in whom spasticity was attributed to spinal rather than cerebral pathology. We gathered demographic information and recorded functional status and spasticity scores pre-operatively and over long-term follow-up. We identified four patients who underwent SDR for spinal-related spasticity. All four had hereditary spastic paraparesis (HSP). All patients had reduced spasticity in the lower limbs after SDR, which was maintained over long-term follow-up. Two patients had a more severe and progressive subtype of HSP, and both these patients exhibited functional decline despite improvement in tone. Our findings suggest SDR is a reasonable option to consider for relief of spinal-related spasticity in uncomplicated hereditary spastic paraparesis. However, SDR for the treatment of complicated HSP seems to carry more risks and have a less predictable outcome. Overall, SDR is probably best reserved for pathologies that are relatively stable in their disease course.

Superficial warming and cooling of the leg affects walking speed and neuromuscular impairments in people with spastic paraparesis

BackgroundPeople with hereditary and spontaneous spastic paraparesis (HSSP) report that their legs are stiffer and walking is slower when their legs are cold. ObjectivesThis study explored the effects of prolonged superficial cooling and warming of the lower leg on walking speed and local measures of neuromuscular impairments. MethodsThis was a randomised pre- and post-intervention study of 22 HSSP participants and 19 matched healthy controls. On 2 separate occasions, one lower leg was cooled or warmed. Measurements included walking speed and measures of lower limb impairment: ankle movement, passive muscle stiffness, spasticity (stretch reflex size), amplitude and rate of force generation in dorsi- and plantarflexors and central and peripheral nerve conduction time/velocity. ResultsFor both participants and controls, cooling decreased walking speed, especially for HSSP participants. For both groups, cooling decreased the dorsiflexor rate and amplitude of force generation and peripheral nerve conduction velocity and increased spasticity. Warming increased dorsiflexor rate of force generation and nerve conduction velocity and decreased spasticity. ConclusionsSuperficial cooling significantly reduced walking speed for people with HSSP. Temperature changes were associated with changes in neuromuscular impairments for both people with spastic paraparesis and controls. This study does not support the use of localised cooling in rehabilitation for people with spastic paraparesis as reported in other neurological conditions. Rehabilitation interventions that help prevent heat loss (insulation) or improve limb temperature via passive or active means, particularly when the legs and/or environment are cool, may benefit people with spastic paraparesis.