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PubMed1979

Intramuscular neurolysis for spasticity in children.

Intramuscular neutrolysis with phenol has been used for 10 years in the management of spasticity in children. Best results depend on fastidious technique and realistic use of the procedure. Sedation or anesthesia was used in all cases -- 5% phenol in water was used for all procedures. The main indications were spasticity which interfered with function, either actual or potential, or with care. Where uninhibited vestibular or tonic neck reflexes affect muscle tone, or there is dystonia or athetosis, the procedure is less effective than where spasticity alone is present. Duration of relief of spasticity ranged from 1 month to more than 2 years. About one half of the lower extremity muscle treated required tenotomy later. Generally training was required after the procedure to obtain improved function. A representative sample of muscles treated, repeat procedures, and later surgery is discussed. The procedure is recommended for use in the management of spasticity in children as a way of improving function and/or care.

Adolescent↗
PubMed1995

Mechanical and electromyographic stretch responses in spastic and healthy subjects.

The reflex mediated mechanical response was studied in the ankle flexors and ankle extensors of healthy and spastic subjects at maintained contractions from low to high concentration levels. This was done by a technique where muscle stretches could be applied during contractions with stretch reflex responses present or during contractions where the stretch reflex was absent. Stretch responses without stretch reflexes were obtained during contractions elicited by electrical stimulation. The validity of this method is discussed in details and it is concluded that the stretch responses during electrical stimulation can give a correct estimate of the non-reflex muscle response. The method is difficult to carry out in many human subjects and a number of precautions have to be taken. In healthy subjects a large reflex mediated mechanical response was found in the ankle flexors and ankle extensors, with the largest response at low and intermediate contraction levels. Surprisingly the reflex mediated mechanical response was found to be of equal size in the ankle extensors of spastic patients and control subjects at all contraction levels. In the ankle flexors no reflex mediated mechanical response was present in the patients contrary to the findings in the control subjects. A method was developed to predict the reflex mediated mechanical response from the reflex mediated EMG response. The method was successfully applied in the ankle flexors. In the ankle extensors the measured reflex mediated mechanical response was a factor of 2.5 lower than the EMG predicted mechanical reflex response. It was concluded that the method cannot be applied in situations where a large synchronized EMG response occurs--as it does in the ankle extensors. An increased EMG response was found in the ankle extensors in spastic patients, but this was not followed by an increased mechanical reflex response. This emphasizes that conclusions drawn from EMG results should be done with caution. Stretch reflexes are increased in spastic patients during clinical examination. This is in contrast to the findings under our experimental conditions, where the reflex mediated response during maintained contraction was decreased in the ankle flexors and unchanged in the ankle extensors of spastic patients. Others have found that the H-reflex is modulated in healthy subjects in relation to different motor tasks. It was proposed that healthy subjects set the reflex in a facilitated state in relation to ongoing contraction under our experimental conditions and perhaps in a more inhibited state in the clinical test situation.(ABSTRACT TRUNCATED AT 400 WORDS)

Ankle↗
PubMedDate not supplied

H-reflex recovery curve and reciprocal inhibition of H-reflex of the upper limbs in patients with spasticity secondary to stroke.

The H-reflex recovery curve of the lower limb is considered a useful test for the diagnosis of spasticity, and recently the reciprocal inhibition of the H-reflex has proven to be abnormal in patients affected with spasticity. We studied the H-reflex recovery curve and the reciprocal inhibition of the H-reflex in the upper limb of a group of 33 patients with different degrees of spasticity secondary to stroke. Results were compared with those of 25 controls. The aim of this study was to investigate if the two tests showed any direct correlation with the degree of spasticity and, furthermore, with other clinical measures that are present in patients with spasticity as part of an upper motoneuron syndrome (i.e., changes in muscle tone, reflexes, force, etc.). The results showed an abnormality of both tests in most patients (decrease of the three phases of inhibition in the reciprocal inhibition test and increase of the late facilitation part of the H-reflex recovery curve), and these abnormalities seem mostly to be related to muscle tone, most important being the degree of correlation between tone and changes in abnormality of the H-reflex recovery curve (P < 0.03).

Adult↗
PubMed1994

Treatment of spastic gait in cerebral palsy.

The most common presentation of cerebral palsy is spastic diplegia, which in severe cases can impede nursing care and in less severe cases can impair a child's ability to move around with facility. A procedure has been developed to decrease spasticity in which there is selective section of portions of the dorsal roots L2-S2. In a series of such operations in 19 children with spastic diplegia, we were able to decrease their spasticity significantly with resultant improvement in motor function and self care. There were no significant complications and patient and family satisfaction was high. Our experiences further confirm existing evidence that this procedure is very helpful and highly recommended for selected children with spasticity due to cerebral palsy.

Cerebral Palsy↗
PubMed1993

Isokinetic dynamometric technique for spasticity assessment.

This study was conducted to determine the feasibility of quantifying spasticity by measuring the resistance to passive movement using an isokinetic dynamometer. A quantifiable method was developed by determining the summation of the four consecutive resisting torque amplitudes during flexion and extension of the knee at specified speeds and range of motion. A more rigorous assessment was made by finding the slope of the linear regression curve of torque-velocity data. Although the values of maximum torque were higher in the spastic group than in the normal group, the difference was statistically significant only when the sum of the torque amplitudes was considered (P < 0.0028). Values of the maximum torque as well as the sum of the torque amplitudes increased in a linear fashion (r > 0.75) with increasing velocity. The slopes of the torque-velocity curves were greater in spastic subjects than in normal subjects. The sensitivity to the rate of stretch was statistically greater (P < 0.0004) for the spastic group than normals only when the sum of torque amplitudes was considered. The corresponding data obtained during the flexion and extension of the knee were not statistically different (P > 0.05). Serial summation of torque amplitudes and measurement of slope in the torque-velocity curve are sensitive and repeatable methodologies for the measurement of spasticity assessment.

Adult↗
PubMed1993

Effect of the beta-carboline abecarnil on spinal reflexes in mice and on muscle tone in genetically spastic rats: a comparison with diazepam.

Abecarnil is a beta-carboline agonist at benzodiazepine receptors with potent anxiolytic activity but no muscle relaxant side effects in rodents. Clinical experience suggests that changes in the muscle tone induced by benzodiazepines are related to their effects on spinal reflexes. The authors therefore analyzed the effect of treatment with abecarnil on spinal monosynaptic (Hoffmann reflexes) and polysynaptic (flexor) reflexes in mice and the influence of abecarnil on muscle tone in genetically spastic rats. The i.v. administration of abecarnil in mice (dose range, 0.02-1 mg/kg) depressed flexor reflexes in a dose-dependent manner; Hoffmann reflexes remained unchanged. Administration of diazepam i.v. (0.01-1 mg/kg) also reduced flexor reflexes and had little or no effect on Hoffmann reflexes. In genetically spastic rats, i.v. administration of abecarnil (10-30 mg/kg) decreased the muscle tone in a dose- and time-dependent manner. A similar muscle relaxant effect was observed in such rats after i.v. administration of diazepam (0.1-0.8 mg/kg). By contrast, i.p. administration of abecarnil in mice did not influence spinal reflexes up to the dose of 1 mg/kg and, in genetically spastic rats, did not affect muscle tone up to the dose of 100 mg/kg. Administration of diazepam i.p. (1 mg/kg) depressed flexor reflexes in mice and over the range 0.2 to 5 mg/kg produced a dose- and time-dependent decrease of muscle tone in genetically spastic rats. The muscle relaxant effect of i.p. diazepam could be antagonized by i.p. administered abecarnil. These studies thus demonstrate that i.v. but not i.p. administration of abecarnil may result in muscle relaxant action in mice and in genetically spastic rats.

Animals↗
PubMed1993

Hyperthermia associated with baclofen withdrawal and increased spasticity.

Rapid baclofen withdrawal is known to cause markedly increased spasticity, but high fever associated with this complication has not been reported. We describe a 13-year-old boy with sensory incomplete C1 quadriplegia two years after injury who was on 200mg of baclofen per day for spasticity. Concerns about adverse side effects prompted tapering of his baclofen. Severely increased spasticity was noted with associated hyperthermia to 107 degrees F after the dosage was gradually decreased. Sepsis work-up was negative, head computed tomography scan was unchanged, and electroencephalogram showed no epileptiform activity. Cooling blankets, intravenous diazepam, and return of baclofen to 160mg per day decreased spasticity and normalized body temperature without recurrence of hyperthermia. Possible fever etiology is the hypermetabolic state associated with the acute return of spasticity.

Adolescent↗
PubMedDate not supplied

Hereditary spastic paraplegia: report of two siblings.

Hereditary spastic paraplegia (HSP) is a degenerative disorder of the central nervous system, characterized by progressive weakness and spasticity of the lower extremities. The first symptom is usually leg stiffness, unstable gait with difficulty in walking. According to the clinical features, hereditary spastic paraplegia can be divided into pure type and complicated type. The mode of hereditary spastic paraplegia can be autosomal dominant, autosomal recessive or X-linked. There have been many loci on chromosomes identified in recent years. We present two Chinese siblings with unstable gait, a 5-year-3-month-old brother and his 3-year-1-month-old sister, who belong to the pure type hereditary spastic paraplegia. Both of them had motor deficit on follow up.

Child, Preschool↗
PubMed1998

[A case of spastic paraparesis with mental deterioration and markedly thin corpus callosum--callosal dysfunction demonstrated by magnetic stimulation].

We have studied function of the corpus callosum in a patient with spastic paraparesis with mental deterioration and markedly thin corpus callosum using magnetic stimulation methods. In a 21-year-old woman with slowly progressive gait disturbance, neurological examination showed mental deterioration, euphoria, spastic paraparesis, bilateral Babinski's sign, and hyperesthesia caudal to the eighth thoracic level. No abnormalities were observed in electroencephalograms. Magnetic resonance imaging (MRI) studies of the brain showed cerebral cortical atrophy, markedly thin corpus callosum, and dilated cavum septum pellucidum and cavum Vergae, but spinal cord MRIs showed no abnormalities. The lysosomal enzyme activities, whose reduction was known to cause leukodystrophy, were all normal. Very long chain fatty acid was not increased in her blood, which is against adrenoleukodystrophy. She had no anti-HTLV-1 virus antibody. Based on these clinical features and the results of biochemical analyses, we diagnosed this patient as having spastic paraplegia associated with hypoplasia of the corpus callosum (Nojima and Iwabuchi). We performed three studies on the central motor pathways in this patient. The latencies of responses recorded from upper or lower limb muscles were all within the normal range, despite that the thresholds were slightly increased. This suggests that axonal degeneration occurs in the central motor pathways, which is consistent with the autopsy findings of a patient with hereditary spastic paraplegia associated with hypoplasia of the corpus callosum. Connection between the bilateral motor cortices was investigated by magnetic stimulation of both motor cortices. The suppression of the motor cortex evoked by stimulation of the contralateral motor cortex through the corpus callosum was absent in this patient. Intracortical inhibition within the motor cortex was demonstrated to be normal by a paired-magnetic stimulation technique. Based on the results of these results of these two experiments, we conclude that the function of the corpus callosum was disturbed in the present patient. This report first shows the functional abnormality of the extremely thin corpus callosum in a patient with hereditary spastic paraplegia associated with hypoplasia of the corpus callosum.

Adult↗
PubMed1998

[Peripheral neurotomy in the treatment of spasticity. Indications, techniques and results in the lower limbs].

INTRODUCTION: The aim of this study was to review the principle of peripheral neurotomy for the treatment of lower limb spasticity. The importance of clinical assessment is stressed (with particular focus on motor block) for determining the best surgical indications. MATERIAL AND METHOD: Between 1989 and 1997, 392 neurotomies were performed in 277 patients in the neurosurgery department of the Henri Mondor Hospital, Créteil, France. Surgical technique consisted in partial and segmental resection, involving each motor collateral branch of muscles with excessive spasticity. For the lower limb, the most frequent neurotomy was performed on collateral branches of the posterior tibial nerve (66%) for the spastic foot. RESULTS: Preoperative motor block provided the advantage of "mimicking" the effect of the neurotomy and therefore gave the patients an idea of the expected result of surgery. For the spastic foot, posterior neurotomy led to the disappearance of ankle clonus in all patients. When antagonist muscles were present, splints were no longer needed after neurotomy. Cinematic analysis showed that tibial neurotomy improved angular variations of the second rocker of the ankle during stance. CONCLUSION: Peripheral neurotomies are simple and safe procedures for the treatment of lower limb spasticity and should be routinely used in general neurosurgery practice.

Adolescent↗
PubMed1998

Beyond Ashworth. Electrophysiologic quantification of spasticity.

Spasticity is a hallmark of upper motor neuron lesion, which is easily identified but is difficult to quantify and treat. The Ashworth scale lacks reliability. Available biomechanical and electrophysiologic studies offer a more reliable measure of spastic hypertonia but have limited clinical utility. A uniformly acceptable, reliable, and practical measure of spasticity continues to elude the clinician. This chapter reviews the basic neuroanatomy and physiology of the stretch reflex and the pathophysiology of the spasticity. Current biomechanical and electrophysiological techniques are used to quantify spasticity.

Afferent Pathways↗
PubMed2000

Pharmacological interventions for spasticity following spinal cord injury.

BACKGROUND: Spasticity is a major health problem for patients with a spinal cord injury (SCI) that limits patients' mobility and affects independence in activities of daily living and work. Spasticity may also cause pain, loss of range of motion, contractures, sleep disorders and impair ambulation in patients with an incomplete lesion. The effectiveness of available drugs is still uncertain and they may cause adverse effects. Assessing what works in this area is complicated by the lack of valid and reliable measurement tools. The aim of this systematic review is to critically appraise and summarise existing information of the effectiveness of available treatments and to identify areas where further research is needed. OBJECTIVES: To assess the effectiveness and safety of Baclofen, Dantrolene, Tizanidine and any other drugs for the treatment of long term spasticity in SCI patients as well as the effectiveness and safety of different routes of administration of Baclofen. SEARCH STRATEGY: We searched the Injuries Group specialised register, the Cochrane Controlled Trials Register, MEDLINE, EMBASE and CINHALH up to 1998. Drug companies and experts active in the area were also contacted. SELECTION CRITERIA: All parallel and crossover RCTs including spinal cord injury patients complaining of "severe spasticity". Studies where less than 50% of patients had a spinal cord injury were excluded. DATA COLLECTION AND ANALYSIS: Methodological quality of studies (allocation concealment, blinding, patients characteristics, inclusion and exclusion criteria; interventions; outcomes; lost to follow up) was independently assessed by two investigators. The heterogeneity among studies did not allow quantitative combination of results. MAIN RESULTS: Nine out of 53 studies met the inclusion criteria. Study design was: 8 cross over, 1 parallel-group trial. Two studies (14 SCI patients), showed a significant effect of intrathecal baclofen in reducing spasticity (Ashworth Score and ADL performances), compared to placebo, without any side effect. The study comparing tizanidine to placebo (118 SCI patients) showed a significant effect of tizanidine in improving Ashworth Score but not in ADL performances. Tizanidine group reported significant rates of adverse effects (drowsiness, xerostomia). For the other drugs (Gabapentine, Clonidine, Diazepam, Amytal and oral Baclofen ) the results do not provide evidence for a clinical significant effectiveness. REVIEWER'S CONCLUSIONS: There is insufficient evidence to assist clinicians in a rational approach to antispastic treatment for SCI. Further research is urgently needed to improve the scientific basis of patient care.

Baclofen↗
PubMed2004

Botulinum toxin A as an adjunct to treatment in the management of the upper limb in children with spastic cerebral palsy.

BACKGROUND: Cerebral palsy (CP) is a central nervous system deficit resulting from a non-progressive lesion in the developing brain. Although the brain lesions are static, the movement disorders that arise are not unchanging and are characterised by atypical muscle tone, posture and movement (Rang 1990). The spastic motor type is the most common form of CP and its conventional therapeutic management may include splinting/casting, passive stretching, facilitation of posture and movement, spasticity-reducing medication and surgery. More recently, health care professionals have begun to use botulinum toxin A (BtA) as an adjunct to interventions in an attempt to reduce muscle tone and spasticity to improve function OBJECTIVES: To assess the effectiveness of intramuscular BtA injections as an adjunct to managing the upper limb in children with spastic CP. SEARCH STRATEGY: We searched the Cochrane Central Register of Controlled Trials (The Cochrane Library, Issue 4, 2003), MEDLINE (1966 to March Week 3 2004), EMBASE (1980 to 2003 Week 16) and CINAHL (1982 to Week 3 March 2004). SELECTION CRITERIA: All randomised controlled trials (RCTs) comparing intramuscular BtA injections into any muscle group of the upper limb with placebo, no treatment or other interventions. DATA COLLECTION AND ANALYSIS: Two authors using standardised forms extracted the data independently. Each trial was assessed for internal validity with differences resolved by discussion. Data was extracted and entered into RevMan 4.2.3. MAIN RESULTS: Two trials met the inclusion criteria, each having short-term follow up, a small number of subjects and using a single set of injections. The study by Corry 1997 compared BtA with an injection of normal saline and found promising results in elbow extension, elbow and wrist muscle tone. At three months, encouraging results for wrist muscle tone and grasp and release were noted. The trial reported median change, range of changes and the difference in these measures between groups. The study by Fehlings 2000 compared BtA with no intervention. When data were analysed no treatment effect was found for quality of upper limb function, passive range of motion, muscle tone, grip strength or self-care ability. REVIEWERS' CONCLUSIONS: This systematic review has not found sufficient evidence to support or refute the use of intramuscular injections of BtA as an adjunct to managing the upper limb in children with spastic cerebral palsy. Only one of the two identified RCTs reported some promising results in support of reduced muscle tone following BtA injections. Further research incorporating larger sample sizes, rigorous methodology, measurement of upper limb function and functional outcomes is essential.

Botulinum Toxins, Type A↗
PubMed1975

Development of locomotor behavior in wild type and spastic (sp/sp) axolotls, Ambystoma mexicanum.

The homozygous recessive spastic mutant found in the Mexican axolotl shows violent coiling and thrashing behavior when subjected to strong tactile or electrical stimulation. In order to establish the time of onset of the first behavioral manifestation of the spastic gene, an etiological analysis of the ontogeny of swimming behavior in mutants and wild type siblings was undertaken. The locomotor patterns shown by embryos in response to an electrical stimulus were analyzed quantitatively from the embryonic early flexure stage through the larval early feeding stage. Spastic larvae failed to show dorsal-up swimming frequencies equal to those of sibling controls from day 12 (Harrison stage 40) of development indicating a lack of equilibrium. Both spastics and their siblings showed "sinusoid swimming" and "coiling" behavior in response to an aversive stimulus through day 18 (Harrison state 46, early feeding stage) of development. From day 18, wild type siblings abruptly decreased "coiling" behavior and showed strong "escape swimming" in response to an intense stimulus. Spastics never developed "escape swimming" patterns but retained a mixture of "sinusoid swimming" and "coiling" patterns characteristic of pre-feeding stage larvae.

Ambystoma↗
PubMed1999

[Reduction of spastic increased muscle tone in multiple sclerosis by the nonopioid analgesic flupirtine].

OBJECTIVES: A reduction of muscle tone in rats can be found after intraperitoneal or intrathecal injection of flupirtine in analgetic doses. However, a muscle-relaxing effect in patients with spasticity has not yet been shown. In this study we investigated whether flupirtine can reduce the increased muscle tone in patients with spasticity. METHODS: The muscle-relaxing effect of flupirtine was compared to that of tetrazepam and of placebo in a randomised, double-blind, cross-over design. Altogether 9 patients with spastically increased muscle tone of the lower limbs were investigated. The EMG activity integral of the rectus femoris muscle was chosen as quantitative parameter for degree and change of muscle tone. The EMG activity integral was measured using a dynamic bicycle ergometer 60, 120 and 180 min after administration of the tested drugs. The degree of spasticity was measured as the quotient of the EMG activity integral of the active and passive rotation phase. This quotient is inversely proportional to the spastic muscle activity. RESULTS: With flupirtine a significant increase in the EMG activity integral was found after 60 min (maximum effect). From 120 min it showed a slow decline. With tetrazepam the maximal effect was reached after 180 min. Placebo did not change the EMG activity integral during the experiment. CONCLUSION: These results support the thesis that flupirtine has a muscle-relaxing effect in patients with pathologically increased muscle tone.

Clinical Trial↗
PubMed1992

Endothelium-dependent dilator response to substance P in patients with coronary spastic angina.

OBJECTIVE: This study was designed to examine whether patients with coronary spastic angina have an impaired coronary artery dilator response to substance P, an endothelium-dependent vasodilator. BACKGROUND: Impairment of the endothelium-dependent vasodilator response has been suggested to be involved in the pathogenesis of coronary spasm. METHODS: In 11 patients with coronary spastic angina and 11 control patients, substance P was infused into the coronary artery at 20 pmol/min for 5 min. Incremental doses of acetylcholine were then injected into the coronary artery. The effects of these drugs and nitroglycerin on the coronary artery diameter were quantitatively analyzed. RESULTS: Heart rate, systolic blood pressure and rate-pressure product did not change after substance P infusion. In 12 coronary arteries of the patients with coronary spastic angina, spasm was induced with acetylcholine. At the site of coronary spasm documented, the lumen diameter, which was 1.6 +/- 0.5 mm at baseline, increased to 2.1 +/- 0.7 mm after substance P infusion (p less than 0.01). It decreased to 0.2 +/- 0.3 mm during acetylcholine-induced spasm (p less than 0.001) and increased to 2.3 +/- 0.8 mm after nitroglycerin administration (p less than 0.001 vs. baseline and p = NS vs. after substance P infusion). Of the 12 arteries with spasm, 5 were angiographically normal and the other 7 were minimally or moderately atherosclerotic: the diameter change after substance P was +28 +/- 20% and +30 +/- 22%, respectively (p = NS). In control patients, the diameter of the middle portion of the left anterior descending artery, which was 2.0 +/- 0.4 mm at baseline, increased to 2.5 +/- 0.4 mm after substance P infusion (p less than 0.001). The diameter changes after substance P infusion were not different between the patients with coronary spastic angina and control patients. CONCLUSIONS: Substance P dilated the artery with spasm of the patients with coronary spastic angina to a degree similar to that in control patients, indicating the preserved endothelium-dependent dilator response at the site of coronary spasm by way of substance P receptor.

Acetylcholine↗
PubMed2006

Intrathecal baclofen management of poststroke spastic hypertonia: implications for function and quality of life.

OBJECTIVES: To evaluate the impact of intrathecal baclofen (ITB) on function and quality of life (QOL) and to obtain efficacy and safety data in poststroke spastic hypertonia. DESIGN: Prospective open-label multicenter trial with follow-up at 3 and 12 months. SETTING: Twenty-four stroke treatment centers in the United States. PARTICIPANTS: Ninety-four stroke participants (age range, 24-82 y) with spastic hypertonia. Seventy-four participants underwent ITB pump implantation. INTERVENTION: Participants were implanted with an ITB pump. MAIN OUTCOME MEASURES: FIM instrument and QOL (Sickness Impact Profile [SIP]) changes, spastic hypertonia (Ashworth Scale), and safety. RESULTS: FIM scores improved overall in repeated-measures analysis of variance (ANOVA) (P = .005) and by 3.00 +/- 7.69 (P = .001) at 3 months and by 2.86 +/- 10.13 (P = .017) at 12 months. Significant improvements in SIP scores were noted overall (repeated-measures ANOVA, P < .001) and at 3 (P = .003) and 12 months (P < .001). The combined average Ashworth Scale score of the upper and lower limbs decreased by 1.27 +/- 0.76 (P < .001) at 3 months and by 1.39 +/- 0.73 (P < .001) at 12 months from baseline, which was significant overall (repeated-measures ANOVA, P<.001). Strength in the unaffected side did not change overall (repeated-measures ANOVA, P = .321) or at either 3 (P = .553) or 12 months (P = .462). Minimal adverse events and device complications were reported. CONCLUSIONS: There was significant improvement in function, QOL, and spastic hypertonia at 3 and 12 months after implant, without adversely affecting muscle strength of the unaffected limbs. Data suggest that ITB therapy is a safe and efficacious treatment for spastic hypertonia resulting from stroke.

Activities of Daily Living↗
PubMed2006

Novel spastin (SPG4) mutations in Italian patients with hereditary spastic paraplegia.

Spastic paraplegia type 4 is caused by mutations in the gene that encodes spastin (SPG4), a member of the AAA protein family. A cohort of 34 unrelated Italian patients with pure spastic paraplegia, of which 18 displayed autosomal dominant inheritance and 16 were apparently sporadic, were screened for mutations in the SPG4 gene by denaturing high performance liquid chromatography. We identified a previously reported mutation in a sporadic patient with pure hereditary spastic paraplegia. We also identified eight unrelated patients with pure autosomal dominant hereditary spastic paraplegia carrying five novel mutations in the SPG4 gene (one missense mutation, c.1304 C>T; one nonsense mutation, c.807C>A; two frameshift mutations, c.1281dupT, c.1514_1515insATA; and one splicing mutation, c.1322-2A>C). The frequency for SPG4 mutations detected in autosomal dominant hereditary spastic paraplegia was 44.4%. This study contributes to expand the spectrum of SPG4 mutations in Italian population.

Adenosine Triphosphatases↗