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Biomedical subjects

M Manfredi

Publications and source records attributed to M Manfredi.

At least 19 recordsLinked to original sources
PubMed1992

Biopsy diagnosis of a case of adult onset orthochromatic leukodystrophy. Clinical and brain biopsy findings.

We report the intra vitam histopathological findings on the brain of a female patient presenting an adult form of orthochromatic leukodystrophy. At 38 years of age the patient began to show progressive dementia and a pseudobulbar syndrome. The pedigree revealed an autosomal dominant pattern of inheritance. The CT scan showed a wide hypodensity of the anterior white matter. Biochemical investigations showed only a slight elevation of serum VLCFA and no alteration of urinary enzymatic activities. Cortical and subcortical biopsy specimens from the right frontal lobe showed: neuronal loss in the gray matter, accumulation of autofluorescent material within residual neurons and sudanophilic material within macrophages and astrocytes, sparing of axons. Electron microscopy showed lamination and fragmentation of the myelin and the presence of electrondense bodies and vesicular material into oligodendrocytes and astrocytes. We discuss the differential diagnosis of OLD forms with adult onset, namely between Löwenberg-Hill disease and the pure form of OLD with pigmented glial cells.

Biopsy↗
PubMed1992

Sequential arm movements in patients with Parkinson's disease, Huntington's disease and dystonia.

We studied the performance of sequential arm movements in 14 patients with Parkinson's disease, nine patients with Huntington's disease and seven patients with arm dystonia. The results were compared with those from normal subjects. Subjects had to perform each movement of the sequence as fast as possible, stopping as briefly as possible between two successive movements. In one set of experiments, patients with Parkinson's disease drew four different geometrical patterns in a counter-clockwise direction. The patterns consisted of two, three, four and five segments of identical length. In a second set, the subjects drew a pentagon in a counter-clockwise and a clockwise direction and each side of the pentagon singly in a counter-clockwise direction. All three groups of patients were slow in executing movements and in switching from one movement to the next. Only patients with Parkinson's disease took longer to perform the segments at the end of a sequence. In other words, their movement times lengthened progressively as the sequence progressed. This phenomenon could still be recognized when the direction and position of the segments were changed (pentagon drawn in the counter-clockwise and the clockwise direction) and when the extra-time needed, mainly due to the sequential nature of the task, was considered by computing the differences between movement times obtained during drawing of the pentagon and those obtained when each segment was traced singly. This study demonstrates that sequential movements are abnormal in Parkinson's disease, Huntington's disease and dystonia and that in the performance of long motor sequences, the deficit in sequencing movements is exacerbated only in patients with Parkinson's disease.

Adult↗
PubMed1992

Hemimegalencephaly and normal intellectual development.

Hemimegalencephaly is a rare congenital malformation characterised by overgrowth of one hemisphere. Although it is commonly thought to be associated with neurological deficits, developmental delay, and intractable epilepsy, the clinical expression of hemimegalencephaly, can vary widely. This patient was neurologically and neuropsychologically normal apart from rare partial seizures.

Adult↗
PubMed1991

Nociceptive quality of the orbicularis oculi reflexes as evaluated by distinct opiate- and benzodiazepine-induced changes in man.

The corneal reflex and the three components of the blink reflex (R1, R2, and R3) were recorded electromyographically in volunteers. The area of these responses was measured before and after administration of the narcotic-analgesic fentanyl (1.5 mg i.m.) and its antagonist naloxone, and after administration of the benzodiazepine diazepam (10 mg i.v.) and its antagonist flumazenil. Saline was given as a control placebo. The corneal reflex was 71% reduced by fentanyl, 43% by diazepam. R1 was 35% reduced and R2 was 60% reduced by diazepam. R3 was abolished by both drugs. Whereas the fentanyl-induced changes were completely reversed by naloxone, the diazepam-induced changes were only partly reversed by flumazenil. The corneal reflex appears to be a 'nociceptive' reflex under all points of view. Recording of the orbicularis oculi reflexes in man may be valuable in the evaluation of central-acting neurotropic drugs.

Adult↗
PubMed1991

Two sisters with generalized dystonia associated with homocystinuria.

Two sisters with progressive dystonic syndromes and homocystinuria are presented. The biochemical defect was not accompanied by the typical clinical features of homocystinuria. Magnetic resonance imaging (MRI) revealed bilateral lesions of the basal ganglia. Homocystinuria should be considered among the causes of symptomatic or secondary dystonias associated with basal ganglia lesions.

Adult↗
PubMed1991

Corticobulbar and corticospinal projections to neck muscle motoneurons in man. A functional study with magnetic and electric transcranial brain stimulation.

The cortical projections to neck muscle motoneurons were studied in normal subjects by electrical and magnetic transcranial brain stimulation. After magnetic stimulation with a large coil, motor evoked potentials were present in about 20% of relaxed and 100% of contracting neck muscles. The latency of these responses was short: about 7 ms in the sternomastoid and splenius and 9 ms in the trapezius muscles. Subtraction of the M-wave latency after stimulation of the accessory nerve at the skull base resulted in a central latency of about 4.5 ms. We suggest that rapid cortical projections connect with neck muscle motoneurons mono or disynaptically. The latency difference between the responses after electrical and magnetic stimulation was smaller in neck than in limb muscles but similar to that seen in masticatory muscles. A small magnetic coil was used to study the pattern of functional lateralization of cortical projections to neck muscle motoneurons; the projections for the sternomastoid and splenius are bilateral but predominantly contralateral, whereas those for the trapezius are exclusively contralateral.

Adult↗
PubMed1991

Histometric study of myelinated fibers in the human trigeminal nerve.

The trigeminal ganglion, roots and the initial portion of the ophthalmic, maxillary and mandibular nerves were dissected in 3 cadavers, to study the number, area and composition of the fascicles, and the density and diameter spectra of myelinated fibers. The total number of fibers (x 1000) was 26 in the ophthalmic, 50 in the maxillary, and 78 in the mandibular division, 7.7 in the motor root and 170 in the sensory root. In all nerves, the histograms of fiber diameter had a bimodal distribution. Cutaneous and muscle nerve fascicles clearly differed in the fiber density and diameter. The ophthalmic and maxillary nerves (cutaneous) had similar fascicles, and their maximum fiber diameter averaged 14.5 microns. Most fascicles of the mandibular nerve (probably cutaneous fascicles) closely resembled those of the ophthalmic and maxillary nerves, but in some fascicles (probably muscle nerves) the fibers were larger, with a maximum diameter of 19.3 microns. The findings in the three peripheral divisions agree with electrophysiological data about sensory and motor conduction in human trigeminal nerves. The observation that the ophthalmic and maxillary nerves have similar fiber spectra indicates that a special fiber composition does not account for the sparing of the ophthalmic division in trigeminal neuralgia. The absence of very large (A alpha) fibers in the sensory root does not support the view that impulses from muscle spindles are conducted along this root.

Humans↗
PubMed1991

Electrical and magnetic transcranial stimulation in patients with corticospinal damage due to stroke or motor neurone disease.

Twenty patients with hemiplegia and 13 patients with motor neurone disease were studied with electrical and magnetic transcranial stimulation. Motor evoked potentials were recorded from the biceps, thenar and tibialis anterior muscles. In both groups of patients magnetic stimulation with a Novametrix stimulator revealed fewer abnormalities than electrical stimulation with a Digitimer D180 stimulator. In patients with hemiplegia, motor evoked potentials after electrical stimulation were absent in 70% of muscles, delayed in 22% and normal in 8%; after magnetic stimulation, they were absent in 53% of muscles, delayed in 28% and normal in 19%. In patients with motor neurone disease, motor evoked potentials after electrical stimulation were absent in 62% of muscles, delayed in 10%, and normal in 29%; after magnetic stimulation, they were absent in 45% of muscles, delayed in 15%, and normal in 40%. The reason why magnetic stimulation reveals fewer abnormalities than electrical stimulation could be that magnetic stimulation repetitively discharges the pyramidal cells and, because of temporal summation mechanisms, produces more powerful excitatory potentials at the lower motoneurone synapse.

Adult↗
PubMed1991

Multiple firing of motoneurones is produced by cortical stimulation but not by direct activation of descending motor tracts.

In the present report we have tested whether stimulation of the motor descending tracts at the brain-stem level could set up repetitive motor unit discharges in a similar manner to that described for motor cortical stimulation. We have seen that a large descending motor volley, evoked by brain-stem stimulation, cannot produce repetitive firing of motor units. Repetitive motoneurone firing is therefore produced by multiple excitatory volleys set up by single cortical shocks.

Brain Stem↗
PubMed1991

Masseter inhibitory reflex in movement disorders. Huntington's chorea, Parkinson's disease, dystonia, and unilateral masticatory spasm.

Evoked by electrical stimulation of the mental nerve, the masseter inhibitory reflex consists of an early and a late silent period (SP1 and SP2), which interrupt the voluntary electromyographic (EMG) activity in the masseter muscle. We recorded the masseter inhibitory reflex and measured its latency, depth of suppression, duration and recovery cycle to paired stimuli, in patients with Huntington's chorea. Parkinson's disease, dystonia, or unilateral masticatory spasm. In patients with Huntington's chorea the reflex data and recovery cycle were normal. In patients with Parkinson's disease or dystonia, although the reflex data were normal, SP2 recovered far more rapidly than it did in control subjects. This is possibly due to hypoactivity of an inhibitory control of the polysynaptic chain of ponto-medullary interneurons that mediate SP2. In patients with unilateral masticatory spasm, both SP1 and SP2 were absent. Suppression is probably absent because this involuntary movement originates at a point along the peripheral course of the nerve.

Adolescent↗
PubMed1991

Corticospinal potentials after electrical and magnetic stimulation in man.

The present report deals with our study of the descending volley evoked by both electrical and magnetic transcranial stimulation in man. We discuss the differences of these two techniques specifically as regards the latency and amplitude of evoked potentials. In both cases, electrodes were placed either in the epidural space or directly on the spinal cord. Following electrical stimulation, the descending volley consisted of an early wave which appeared at low stimulation intensity and increased in amplitude and decreased in latency when the strength of the stimulus was increased. At high stimulation intensities the early wave was followed by later waves which travel at the same speed as the initial wave. By delivering paired cortical stimuli, the early wave evoked by the test stimuli is present at 1-msec interval and progressively recovered with longer intervals. The recovery cycle of the later waves is also extremely short. Following magnetic stimulation, the descending volley also consisted of an initial wave followed by later waves. The initial wave has a slightly longer latency, a higher threshold and a smaller amplitude than the early wave evoked by electrical stimulation. The results are discussed with reference to the D and I waves recorded from the pyramidal tract in animals.

Adult↗
PubMed1990

Botulinum A toxin injection in patients with blepharospasm, torticollis and hemifacial spasm.

Botulinum A toxin was injected into the affected muscles in 20 patients with blepharospasm, 8 with torticollis and 12 with hemifacial spasm. In all cases blepharospasm and hemifacial spasm was abolished or markedly reduced. The only side effect was transient ptosis and diplopia. Patients with torticollis had a mild to moderate improvement of the dystonic posture and pain; dysphagia was the most troublesome side effect. Botulinum A toxin is an effective therapy in patients with focal dystonia and spasms.

Blepharospasm↗
PubMed1979

[Multielectronic computerized EMG: technical notes on the recording and parallel off-line elaboration].

A Multielectrodic EMG analysis program is developing. The purpose is to get as short as possible the main EMG parameters (amplitude, duration, frequency) of most motor units, and to reach an estimation of the anatomical extent of single units. According to the muscle extent a variable number of electrodes are inserted crosswise the fibers. EMG signals are simultaneously recorded on a multichannel AMPEX FR1300 and then off-line processed by a 21MX HP minicomputer connected with a 5Mbytes disc drive. Some technical problems had to be solved:channel amplification adjustment to avoid any difference among preamplifiers calibration and filtering, severe hum filtering of main power that is specially strong in nultielectrodic recording systems, the need of sampling at the same Nyquist time the signals of different channels. The computer is instructed to identify the "sinchronous" units i.e. the motor units recorded from more than one channel. These motor units are detected, counted and deleted from all the channels, except the one where they show the maximum amplitude. The percentage of these sinchronous units depends upon the interelectrodic distance and their anatomical area, thus it can support an evaluation of motor unit anatomical spread.

Computers↗