Olga P. Sanz

Cu/Zn superoxide dismutase activity at different ages in sporadic amyotrophic lateral sclerosis.

Amyotrophic lateral sclerosis (ALS) is a progressive disorder resulting from degeneration of motor neurons in the brain and spinal cord. Sporadic ALS (SALS) accounts for the majority of patients and the familial form (FALS) represents fewer than 10% of all cases. Since it was found that there are Cu/Zn superoxide dismutase (SODI) gene mutations in 20% of FALS patients and that FALS and SALS patients show similar clinical features, it has been postulated that both may share a common physiopathological mechanism. We studied Cu/Zn SOD1 activity in cytosolic extracts of erythrocytes from 125 normal individuals and 40 SALS patients. We found that enzyme activity does not change with age in control subjects and tends to decrease in most SALS patients older than 60 years. A subpopulation of five SALS patients had significantly increased SOD1 activity; four of these patients over 70 years old. There was no correlation between enzyme activity and time of onset of the disease, or clinical forms of the illness. The variation in SOD1 activity in ageing SALS patients compared with younger patients suggests that they may undergo an oxidative disbalance contributing to the development of the disease.

Familial congenital facial diplegia: Electrophysiologic and genetic studies

A 13-year-old boy with autosomal-dominant congenital facial diplegia was evaluated by electrophysiologic and genetic investigations. Thirteen members of his family were affected over 4 generations. The electrophysiologic studies revealed blink reflex abnormalities. Both R1 and R2 responses were prolonged on the left side after ipsilateral stimulation, while R2 was also delayed by contralateral stimulation. Ipsilateral R1 and R2 were of normal latencies when the right side was stimulated. A third ipsilateral response at 63 msec of latency could be obtained when stimulating the left side. These findings suggest functional damage to the brainstem. Further support for this interpretation was provided by the prolonged time between waves I and V, bilaterally, documented by study of brainstem auditory evoked potentials.

Neuropathy in myotubular or centronuclear myopathy

A detailed electrophysiological study has been made of the extensor digitorum brevis, thenar, hypothenar and soleus muscles in one patient with myotubular or centronuclear myopathy. The main finding was a noticeable reduction in the population of active motor units in all the investigated muscles. The remainer units showed normal sizes. The experimental observations have been interpreted in terms of a neuropathic process.

Evaluacion del factor central y periferico en fatiga muscular.

Muscular fatigue was investigated in 13 healthy people by employing a simple device which comprises a computer on line with a conventional EMG equipment able to automatically measure the frequency and duration of free-run EMG recording. The procedure was carried out in the extensor digitorum brevis muscle by using surface electrodes throughout 10 minutes of voluntary maximal effort. The maximal M wave as well as the muscle response to repetitive nerve maximal stimulation was also explored at the beginning and at the end of the experiment. It was observed a decrease of the potentials frequency discharge and an increase of their duration without major changes in the M wave amplitude neither in the muscle response to the repetitive nerve discharge. The findings pointed out to the central factors as the main responsible for the development of muscular fatigue.

An electrophysiological investigation of skeletal muscles in polymyositis

An electrophysiological study has been made of the extensor digitorum brevis, thenar and hypothenar muscles in 25 patients with chronic and acute polymyositis. It was found a reduction of the number of functioning motor units in some patients with chronic polymyositis and only in one of those affected by acute polymyositis and only in one of those affected by acute polymyositis. The sizes of the surviving units suggested that the results could be explained in terms of a primary muscle involvement mainly in acute polymyositis, while in chronic polymyositis a combination of primary and neurogenic involvement of muscle fibers might take place.

Diagnostico y tratamiento de la myasthenia gravis estudio de una poblacion hospitalaria

Between 1974 and 1987 we have examined 50 patients with the diagnosis of myasthenia gravis. Female preponderance (2.5: 1) was found. Also, it was observed that most of the patients were aged between 20 and 49 years. Beside the clinical examination, the following tests were performed: (1) edrofonium test, (2) supramaximal repetitive nerve stimulation, (3) serum acetylcholine antibodies titers and (4) intraperitoneal passive transference of patients sera to mice and recording of meepps amplitude in the phrenic-diaphragm preparation in vitro. These four tests gave positive values for myasthenia in 90 to 100% of the cases. Thymus radiological examination was carried out by pneumomediastinography, which proved to correlate with the histological picture of the gland, and computed tomography, which disclosed some discrepances with the histology. Treatment was based on anticholinesterase drugs, corticosteroids and thymectomy, being the corticosteroids the most valuable therapeutical tool. Nine patients treated with steroids disclosed transitory worsening of their signs and symptoms at very early stages after onset of corticosteroid therapy, 6 of them had a disfavorable course in their follow-up. This observation seem to have value in the early prognosis of the disease.

Potenciales evocados somatosensitivos en una poblacion cronicamente intoxicada con plomo

Eleven patients with chronic lead intoxication were submitted to somatosensory evoked potential (SEP) studies. All patients demonstrated increased lead blood levels and reduced ALA D activity in red blood cells. Three patients showed delayed spinal arrival (N13 wave), four delayed cortical arrival (N20 wave), and three prolonged central conduction time (time elapsing between N13 and N20 waves) (see table 1). No relationship was found between the abnormal findings and the levels of lead or ALA D. Time of intoxication was not related to the altered electrophysiological features either. The findings reported suggest that, beside the well known peripheral involvement in chronic lead intoxication, some patients may develop central nervous system impairment perhaps related to myelin involvement as suggested by the prolonged SEP central conduction time.Eleven patients with chronic lead intoxication were submitted to somatosensory evoked potential (SEP) studies. All patients demonstrated increased lead blood levels and reduced ALA D activity in red blood cells. Three patients showed delayed spinal arrival (N13 wave), four delayed cortical arrival (N20 wave), and three prolonged central conduction time (time elapsing between N13 and N20 waves) (see table 1). No relationship was found between the abnormal findings and the levels of lead or ALA D. Time of intoxication was not related to the altered electrophysiological features either. The findings reported suggest that, beside the well known peripheral involvement in chronic lead intoxication, some patients may develop central nervous system impairment perhaps related to myelin involvement as suggested by the prolonged SEP central conduction time.

Estudio electrofisiologico de las variactones en la inervacion de los musculos de la mano

An electrophysiological study was carried out searching for variations in the innervation of the muscles of the hand. For this purpose a simple and non time-consuming technique was designed for stimulating the ulnar and median nerves at the elbow and wrist. Recordings were performed with surface electrodes at the abductor pollicis brevis, adductor digiti minimi and first dorsal interosseus muscles. Several anomalous innervation patterns of the intrinsic muscles of the hand were found, and the innervation of the first dorsal interosseus by the median nerve was the most frequent.

Peripheral nerve involvement in Bell's palsy

A group of patients with Bells palsy were studied in order to disclose the presence of subclinical peripheral nerve involvement. 20 patients, 8 male and 12 female, with recent Bells palsy as their unique disease were examined. In all cases other causes of polyneuropathy were ruled out. Patients were investigated with CSF examination, facial nerve latencies in the affected and in the sound sides, and maximal motor nerve conduction velocities, as well as motor terminal latencies from the right median and peroneal nerves. CSF laboratory examination was normal in all cases. Facial nerve latencies were abnormal in all patients in the affected side, and they differed significantly from those of control group in the clinically sound side. Half of the patients showed abnormal values in the maximal motor nerve conduction velocities and motor terminal latencies of the right median and peroneal nerves. These results agree with previous reports which have pointed out that other cranial nerves may be affected in Bells palsy. However, we have found a higher frequency of peripheral nerve involvement in this entity. These findings, support the hypothesis that in some patients Bells palsy is the component of a more widespread disease, affecting other cranial and peripheral nerves.

Evaluacion del factor central y periferico en fatiga muscular en pacientes com daño piramidal

Muscular fatigue mechanisms were partially analyzed in patients with pyramidal lesions by using a computer device on line with a conventional electromyograph. Both the normal and the affected side were compared with control groups. The recordings were done throughout a ten minutes period and the maximal M wave was also measured at the starting and at the end of the procedure. The findings suggested that central events play a major role in the development of muscular fatigue in spastic muscles due to pyramidal damage.Muscular fatigue mechanisms were partially analyzed in patients with pyramidal lesions by using a computer device on line with a conventional electromyograph. Both the normal and the affected side were compared with control groups. The recordings were done throughout a ten minutes period and the maximal M wave was also measured at the starting and at the end of the procedure. The findings suggested that central events play a major role in the development of muscular fatigue in spastic muscles due to pyramidal damage.