A new X linked neurodegenerative syndrome with mental retardation, blindness, convulsions, spasticity, mild hypomyelination, and early death maps to the pericentromeric region.
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We report on a family with an X linked neurodegenerative disorder consisting of mental retardation, blindness, convulsions, spasticity, and early death. Neuropathological examination showed mild hypomyelination. By linkage analysis, the underlying genetic defect could be assigned to the pericentromeric region of the X chromosome with a maximum lod score of 3.30 at theta=0.0 for the DXS1204 locus with DXS337 and PGK1P1 as flanking markers. (+info)
A clinical guide to assess the role of lower limb extensor overactivity in hemiplegic gait disorders.
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BACKGROUND AND PURPOSE: The aim of this study was to assess the role of knee and ankle extensor overactivity in the hemiplegic gait observed in stroke victims and to propose a clinical guide for selecting patients before treatment of a supposed disabling spasticity. METHODS: A standardized physical examination procedure was performed in 135 consecutive stroke patients. All patients were able to walk without human assistance. The period after stroke ranged from 3 to 24 months (mean, 11.5+/-7.25 months). Spasticity was evaluated with the stroke victim in sitting position and during walking. Overactivity of the quadriceps was considered disabling when inducing inability to flex the knee during the swing phase despite adequate control of knee flexion in sitting and standing positions; overactivity of the triceps surae was considered to be disabling when heel strike was not possible despite good control of the ankle flexion in sitting position; triceps retraction was also considered. RESULTS: Disabling overactivity was observed in 56 (41.5%) patients: 11 times for the quadriceps femoris, 21 times for the triceps surae, and 21 times for both muscles. It was considered to be the main disorder impairing gait among only 16 (12%) patients: 9 for the quadriceps alone, 3 for the triceps alone, and 4 for both. Sitting spasticity of the lower limb was not predictive of disabling overactivity during walking. CONCLUSIONS: Extensor muscle overactivity is one of the components of gait disorders in stroke patients. The difficulty in assessing spasticity and its real causal effect in gait disturbances are discussed. A clinical guide is proposed. (+info)
Impaired modulation of quadriceps tendon jerk reflex during spastic gait: differences between spinal and cerebral lesions.
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In healthy subjects, functionally appropriate modulation of short latency leg muscle reflexes occurs during gait. This modulation has been ascribed, in part, to changes in presynaptic inhibition of Ia afferents. The changes in modulation of quadriceps tendon jerk reflexes during gait of healthy subjects were compared with those of hemi- or paraparetic spastic patients. The spasticity was due to unilateral cerebral infarction or traumatic spinal cord injury, respectively. The modulation of the quadriceps femoris tendon jerk reflex at 16 phases of the step cycle was studied. The reflex responses obtained during treadmill walking were compared with control values obtained during gait-mimicking standing postures with corresponding levels of voluntary muscle contraction and knee angles. In healthy subjects the size of the reflexes was profoundly modulated and was generally depressed throughout the step cycle. In patients with spinal lesion the reflex depression during gait was almost removed and was associated with weak or no modulation during the step cycle. In patients with cerebral lesion there was less depression of the reflex size associated with a reduced reflex modulation on the affected side compared with healthy subjects. On the 'unaffected' side of these patients reflex modulation was similar to that of healthy subjects, but the reflex size during gait was not significantly different from standing control values. These observations suggest that the mechanisms responsible for the depression of reflex size and the modulation normally seen during gait in healthy subjects are impaired to different extents in spasticity of spinal or cerebral origin, possibly due to the unilateral preservation of fibre tracts in hemiparesis. (+info)
Quantitative assessment of subclinical spasticity in human T-cell lymphotropic virus type I infection.
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OBJECTIVE: To compare human T-cell lymphotrophic virus type I (HTLV-I) seropositive and seronegative women for symptoms and signs of spasticity. BACKGROUND: Infection with HTLV-I causes tropical spastic paraparesis/ HTLV-I-associated myelopathy (TSP/HAM). Certain populations, including female commercial sex workers (FSW), are at increased risk of developing this infection. Fewer than 5% of HTLV-I-seropositive persons develop TSP/HAM, which is typically associated with spasticity. METHODS: Cross-sectional study of 255 registered FSW in Callao, Peru, involving a questionnaire detailing demographics and neurologic symptoms, standard neurologic examination, quantitative assessment of spasticity (QSA) of muscle tone, and serologic testing for HTLV-I. Participants and examiners were blinded to serology results. RESULTS: On the questionnaire and neurologic examination, none of the 32 HTLV-I-seropositive or 223 seronegative women had signs or symptoms of spasticity. However, mean values on QSA were significantly higher among seropositive women (27.1 Newton-meters/radian [N-m/r]) than among seronegative women (21.6 N-m/r, p = 0.01), indicating a subclinical increase in lower extremity tone. With values of QSA divided into tertiles, and the first tertile serving as the comparison group, the odds ratio for seropositivity was 1.4 (95% confidence interval [CI] 1.0 to 2.0) in the second and 3.1 (95% CI 2.2 to 4.3) in the third tertile, after adjusting for age and place of birth. CONCLUSIONS: Although a standard neurologic evaluation could not distinguish between women with and without HTLV-I infection, QSA indicated significantly increased lower extremity tone in those with infection. Long-term follow-up will determine whether these subclinical findings in asymptomatic women progress to overt TSP/HAM. (+info)
A neurological disease caused by an expanded CAG trinucleotide repeat in the TATA-binding protein gene: a new polyglutamine disease?
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To investigate whether the expansion of CAG repeats of the TATA-binding protein (TBP) gene is involved in the pathogenesis of neurodegenerative diseases, we have screened 118 patients with various forms of neurological disease and identified a sporadic-onset patient with unique neurologic symptoms consisting of ataxia and intellectual deterioration associated with de novo expansion of the CAG repeat of the TBP gene. The mutant TBP with an expanded polyglutamine stretch (63 glutamines) was demonstrated to be expressed in lymphoblastoid cell lines at a level comparable with that of wild-type TBP. The CAG repeat of the TBP gene consists of impure CAG repeat and the de novo expansion involves partial duplication of the CAG repeat. The present study provides new insights into sporadic-onset trinucleotide repeat diseases that involve de novo CAG repeat expansion. (+info)
"Task-oriented" exercise improves hamstring strength and spastic reflexes in chronic stroke patients.
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BACKGROUND AND PURPOSE: Despite the belief that after cerebral infarction only limited functional gains are possible beyond the subacute period, we tested the hypothesis that a 12-week program of "task-oriented" treadmill exercise would increase muscle strength and decrease spastic reflexes in chronic hemiparetic patients. METHODS: Fourteen subjects, aged 66+/-3 (mean+/-SEM) years, with residual gait deviations due to remote stroke (>6 months), underwent repeated measures of reflexive and volitional (concentric and eccentric) torque with use of isokinetic dynamometry on the hamstring musculature bilaterally. Torque output was measured at 4 angular velocities (30(o), 60(o), 90(o), and 120(o)/s). RESULTS: After 3 months of 3 times/wk low-intensity aerobic exercise, there were significant main effects (2 legs [P<0.01]x2 times [P<0. 01]x4 angular velocities [P<0.05]) for concentric torque production. Torque/time production in the concentric mode also improved significantly in the paretic (50%, P<0.01) and nonparetic hamstrings (31%, P<0.01). Eccentric torque/time production increased by 21% (P<0.01) and 22% (P<0.01) in the paretic and nonparetic hamstrings, respectively. Passive (reflexive) torque/time generation in the paretic hamstrings decreased by 11% (P<0.027). Reflexive torque/time was unchanged in the nonparetic hamstrings (P=0.45). CONCLUSIONS: These findings provide evidence that progressive treadmill aerobic exercise training improves volitional torque and torque/time generation and reduces reflexive torque/time production in the hemiparetic limb. Strength changes associated with improved functional mobility in chronic hemiparetic stroke survivors after treadmill training will be reported in future articles. (+info)
Orthopedic management in autosomal recessive spastic ataxia of Charlevoix-Saguenay.
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OBJECTIVE: To review the orthopedic management of choice in patients having autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS). DESIGN: A retrospective study from April 1978 to April 1997. SETTING: Centre hospitalier de la Sagamie, Chicoutimi, Que. PATIENTS: A review of the records of patients having ARSACS who were identified in the registry of the Neuromuscular Diseases Clinic at the Centre hospitalier de la Sagamie revealed 26 patients who received surgical orthopedic treatment. Initially, the patients were offered conservative treatment, which consisted of physiotherapy sessions, the wearing of an ankle-foot orthosis or serial casting. When this was unsuccessful, foot surgery was considered. RESULTS: During the study period, 49 orthopedic procedures were done, including 24 triple arthrodeses; of these, 9 were combined with lengthening of the Achilles tendon. Most triple arthrodeses were done in patients between the ages of 30 and 49 years. The surgical options evolved during the study from Lambrinudi arthrodesis through arthrodesis of the ankle to triple arthrodesis with lengthening of the Achilles tendon. CONCLUSIONS: As a complement to conservative treatment, surgery has a place in the care of patients with ARSACS. Clinically, the most effective surgical procedures are triple arthrodesis with percutaneous lengthening of the Achilles tendon and adductor and psoas tenotomies combined with neurectomy of the obturator nerve for perineal hygiene. (+info)
Periacetabular osteotomy in the treatment of neurogenic acetabular dysplasia.
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We carried out the Bernese periacetabular osteotomy for the treatment of 13 dysplastic hips in 11 skeletally mature patients with an underlying neurological diagnosis. Seven hips had flaccid paralysis and six were spastic. The mean age at the time of surgery was 23 years and the mean length of follow-up was 6.4 years. Preoperatively, 11 hips had pain and two had progressive subluxation. Before operation the mean Tonnis angle was 33 degrees, the mean centre-edge angle was -10 degrees, and the mean extrusion index was 53%. Postoperatively, they were 8 degrees, 25 degrees and 15%, respectively. Pain was eliminated in 7 patients and reduced in four in those who had preoperative pain. One patient developed pain secondary to anterior impingement from excessive retroversion of the acetabulum. Four required a varus proximal femoral osteotomy at the time of the pelvic procedure and one a late varus proximal femoral osteotomy for progressive subluxation. Before operation no patient had arthritis. At the most recent follow-up one had early arthritis of the hip (Tonnis grade I) and one had advanced arthritis (Tonnis grade III). Our results suggest that the Bernese periacetabular osteotomy can be used successfully to treat neurogenic acetabular dysplasia in skeletally mature patients. (+info)