Diagnosis of juvenile-adult form of neuroaxonal dystrophy by electron microscopy of rectum and skin biopsy.
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Biomedical subjects
Publications and source records attributed to J Noth.
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New experimental results on long latency reflexes in human limb muscles were presented by neurophysiologists and clinicians with great experience in this field. The scope of presentations reached from the pattern of long latency reflexes in leg muscles during stance and the modifications in various motor disorders to the firing behavior of single motor units during torque perturbations of the elbow and to the role of habituation in long latency reflexes. Finally, the effect of stereoencephalotomy on long latency reflexes in normals and patients with parkinsonian tremor was reviewed.
Long-latency electromyographic (EMG) responses of the first dorsal interosseus muscle were evoked by short displacements of the index finger in healthy subjects and in patients with Huntington's disease (HD). In all 20 healthy subjects the early spinal response (mean latency 31.5 ms) was followed by a reproducible later reflex response with a mean latency of 56.5 ms. The activity pattern of single motor units of the stretched muscle was similar to that of the surface EMG. Thus all single motor units tested could be active during either the first or second response phase, but never in both in a given trial. Of the 50 patients with HD, the late EMG response was missing completely in all but 7, but the early spinal component was almost identical to that of the control group. Double stretches at an interval of 25 ms evoked two similar EMG responses in these patients, proving that the motoneuron pool is still excitable during the time at which the second response would have appeared in healthy subjects. The reflex responses of the thenar muscles evoked by electrical stimulation of the median nerve were examined during a voluntary opposing contraction of the thumb in both groups of subjects. In normal subjects, two EMG responses could be distinguished with latencies similar to those of the mechanically elicited responses. Patients with HD again lacked the second response, although the first spinal response was always present. The results are discussed with respect to different proposals concerning the origin of long-latency responses in human muscles. At least for distal hand muscles, the results suggest that the long-latency responses are long-loop reflexes.
Reflex stiffness of the flexing human index finger was studied using sinusoidal movements at 3-16 Hz. The Nyquist stiffness diagram indicates the presence of a 'presonance' at around 4 Hz, its 'C' shape after correction for the mechanical properties of the relaxed finger is consistent with the involvement of a stretch reflex in its generation. This contention was supported by the presence of negative friction around 4 Hz and the disappearance of the modulation of the stiffness curve after afferent ischaemic block. Correction for the mechanical properties of active muscle, measured after afferent block, permitted the isolation of the reflex component of stiffness. The circular form of the Nyquist diagram indicates a relatively flat frequency response for the reflex over the range tested, and its radius gives a measure of reflex gain. The low value of the frequency at which the frictional force is minimal, suggests the involvement of a reflex of longer than spinal latency. This is discussed in relation to mechanisms of tremor genesis and the interaction of spinal and long latency reflexes in distal hand muscles.
Somatosensory evoked potentials (SEPs) and EMG responses to mechanical disturbances of positioning movements of the index finger were recorded from normal subjects who performed smooth flexions against the constant load of a torque motor in order to reach a specified target zone. According to a random series 60% of the movements were disturbed by step increases or decreases of the load which subjects had to compensate for (movement condition, MC). As control procedures (a) the same stimuli were applied while the subject had to maintain a constant finger position against the same load (hold condition, HC), and (b) comparable mechanical stimuli were administered to the stationary relaxed finger (resting condition, RC). In MC and HC, the EMG responses consisted of a long-latency (53-61 msec) reflex component, and a 'voluntary' component (98-134 msec). In all 3 conditions, the sequential SEP deflections measured over the sensorimotor cortex included peaks P85 (ipsilateral), N150 (bilateral) and P220 (bilateral). A contralateral N90 component (onset latency 55-60 msec), present in HC and RC, was markedly reduced or absent in MC. Neither in the preceding nor in the consecutive SEP components were there any significant condition-dependent differences, though the N150 showed a trend to diminished amplitude in MC as well. The suppression of SEP components in MC is discussed in terms of efferent and afferent 'gating' actions exerted on the somatosensory input during movement.
Spinal and cortical somatosensory evoked potentials (SEPs) were recorded in a large sample of patients with Huntington's disease (n = 37) and subjects at risk (first order offspring, n = 43). The SEPs were elicited by stimulation of the median and tibial nerves and recorded at Erb's point, the cervical level (C2) and at the corresponding scalp areas. The most striking finding in patients with Huntington's disease was a drastic diminution of the amplitude of the early cortical components, especially N20/P25 for the median nerve and N33/P40 for the tibial nerve. The latencies (Erb's point, C2, cortical) were only slightly prolonged in comparison to the normal values. Forty-three per cent of the persons at risk exhibited pathological results with a clear reduction in amplitude of the early cortical responses or with a pathological side difference between the amplitudes. Fifty-three per cent of the persons at risk exhibited a normal result. Two persons at risk (= 6%) could not be classified unambiguously. Some patients with benign and symptomatic chorea were investigated. These showed normal results with one exception. The diagnostic and predictive value of the investigation of SEPs in Huntington's disease is discussed.
Long latency reflexes in the electromyogram (EMG) of the first dorsal interosseus muscle were elicited by short finger displacements under isometric conditions. In all healthy subjects tested the spinal response was followed by a second involuntary component. Patients with Huntington's disease lacked the late EMG response almost completely, but exhibited a spinal component indistinguishable from that of the control group. A spinal mechanism responsible for this result is unlikely, since double stretches evoked two distinct EMG responses in these patients. Moreover, drastically reduced cortical somatosensory evoked potentials in all patients support the notion that the second EMG response seen in our motor paradigm is of supraspinal origin.
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Forty functionally single gamma-efferents (20-42 m/s) to the triceps surae were isolated in ventral root filaments of the decerebrated and paralysed cat in order to study the effects of group I muscle afferents on their own fusimotor neurones. All the efferents studied were spontaneously active. During splitting the continuity of the efferent fibre was preserved so that the destination of the target muscle of the efferent could be determined by antidromic stimulation of the muscle nerve using the collision block technique. Thereafter the filament was cut so that the reflex response, uncontaminated by antidromic impulse invasion, could be recorded from the central end. Sixteen of forty gamma-efferents to the triceps were inhibited by repetitive stimulation (range -3 to -40 impulses/s) of the homonymous nerve within the group I range. Raising the stimulus strength above the group II threshold produced no further increase in inhibition. Twelve of these sixteen cells were also tested by stretching the triceps; ten showed marked inhibition, and two were not influenced. In ten of the sixteen inhibited cells, the autogenetic inhibition at maximum group I stimulus strength was larger than the maximum antidromic inhibition elicited by stimulation of the remainder of the cut ventral roots L7 and S1. Since both effects were additive, it is concluded that Renshaw inhibition is at least not solely responsible for the autogenetic inhibition. Consistent with this assumption is the observation that some cells receiving electrically evoked autogenetic inhibition were not susceptible to inhibition induced by small-amplitude vibration of the triceps. Since small-amplitude vibration is known to excite most of the Ia afferents of the vibrated triceps, Ib afferents must be involved in the autogenetic fusimotor inhibition. A contribution of Ia afferents to the autogenetic inhibition (via alpha-motoneurones and Renshaw cells or via Ib inhibitory interneurones) seems likely since inhibition, induced by small-amplitude vibration, was detectable in many of the cells receiving autogenetic group I inhibition. All of these cells were susceptible to antidromic inhibition. Ten of the forty cells tested responded with tonic facilitation to the homonymous nerve stimulation. Some arguments favour the view that static gamma-motoneurones are involved in the low-threshold autogenetic inhibition. The results strongly support earlier work suggest a regulatory function of low-threshold muscle receptors on their own gamma-motoneurones.
1. Electromyographic (e.m.g.) profiles of proximal arm muscles were studied in human subjects falling forward onto a platform. 2. The stretching of the triceps lasted 200-300 msec for deep falls, and immediately after impact angular velocities of the elbow joint up to 1000 degrees sec-1 were reached. 3. For angles of fall between 50 and 90 degrees, more than half of the subjects exhibited marked short-latency e.m.g. responses of the triceps brachii. Such responses began 20-30 msec after touchdown, arising from a more or less plateau-like activity which started about 130 msec before impact. In some cases distinct later responses were found, the second peak having a latency of 60-80 msec after touchdown. 4. The early e.m.g. response even appeared when the subject was blindfolded and when the depth of the fall was randomly varied. 5. It is concluded that both the pre-existing activity and the spinal stretch reflex contribute significantly to the over-all activity of the triceps during stretch after impact.
Four cases of cyclist's palsy -- a distal compression syndrome of the ulnar nerve which can develop after long cycling tours -- are described. In two patients extensive neurological and electromyographic (EMG) studies were performed in order to document the degree and time course of recovery of the motor and sensory deficiencies. In contrast to either EMG-studies it could be demonstrated that not only the deep motor branch of the ulnar nerve is involved, but also that a severe lesion of the superficial branch supplying the skin of the 4th and 5th finger can occur, as indicated by a complete loss of the orthodromic sensory action potential recorded above the ulnar nerve in both cases. The results furthermore show that a functionally significant paresis of the hand muscles can persist for several months. The pathogenesis and some practical implications will be discussed.
Triceps surae gamma-efferents have been isolated in intact ventral root filaments in order to study the autogenetic Group II effects evoked by stimulation of the nerve to the triceps surae in decerebrate cats. Half of the 22 cells tested were facilitated by repetitive stimulation of this nerve in the Group II range. Six cells showed a mixture response pattern with an initial facilitation followed by declining activity during the ongoing stimulation. Eight cells were not influenced within the Group II range. The results suggest that autogenetic Group II facilitation of gamma-motoneurones plays a functional role in the gain control of muscle spindle endings.
The interaction of static and dynamic fusimotor activation on the firing of primary muscle spindle afferents has been studied in the cat soleus muscle at constant length and during sinusoidal stretching. Cycle histogram analysis revealed summation of static and dynamic action during the peak of the afferent response to sinusoidal stretching, while static action completely occluded the dynamic effect during the trough of the response. Occlusion was complete as long as, for single fusimotor activation, the static-induced trough response exceeded the dynamic-induced one by about 25%. The investigation of inter-spike interval distributions obtained at constant muscle length revealed occlusion of dynamic by static action in 8 out of 13 cases. A model of multiple spike generation in primary spindle afferents is considered which is based on two or more pacemakers arranged in parallel, with a common pacemaker in series.
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Vitreous fluorophotometry is a new quantitative method for evaluation of the blood-retinal barrier (BRB). The application of this method to a series of diabetic patients with apparently normal fundi revealed the presence of a significant breakdown of the BRB in the early stages of retinal involvement in diabetes. This alteration of the BRB appears to be the earliest clinically detectable change to occur in the retina in diabetes. Higher vitreous fluorophotometry values, indicating a more marked breakdown of the BRB, occurred in patients who were under worse metabolic control. Higher vitreous fluorophotometry values were also associated with the development of visible retinal lesions.
1. The surface electromyogram (EMG) of human leg muscles was recorded during running at different speeds; The EMG was compared with the simultaneously recorded vertical force exerted by the foot and with the angle of the ankle joint. 2. During running, the electrical activity of the gastrocnemius muscle increased sharply 35--45 ms after ground contact and reached its maximum at the end of muscle stretch; This activity was superimposed on a slowly increasing level of activation, which began 120--180 ms before ground contact. At the end of the stance phase, gastrocnemius became inactive and, simultaneously, there was a sudden increase in tibialis anterior activity. The assumption that the steep increase in the gastrocnemius EMG reflects the spinal stretch reflex of alpha-motoneurons is supported by the following findings. 3. The peak level of gastrocnemius EMG in the stance phase of fast running was 2--3 times higher than the activity during maximum voluntary contraction. 4. With stimulation of the tibial nerve at different rates, the maximum isometric force was about 30--40% higher than the maximum voluntary isometric contraction. 5. The increase in EMG at 35--45 ms after ground contact was markedly diminished during running, after partial blockage of Ia afferents by ischemia, at a time when the strength of voluntary contraction was shown to be uninfluenced by the ischemia. 6. The gastrocnemius activity during running was simulated by electrical stimulation of the tibial nerve. The rate of stimulation was varied so as to approximate to the EMG profile during running. This indicated that a spinal stretch reflex could become mechanically effective within the shortest stance phase measured in a fast sprint (ca. 120 ms).
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