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J Aasly

Publications and source records attributed to J Aasly.

At least 19 recordsLinked to original sources
PubMed1992

A new hereditary syndrome with a bleeding tendency, extreme miosis, spasms, dyslexia, thrombocytopathia etc. Pupillometric, evaporimetric, and ophthalmological observations.

A recently described familiar syndrome consists of the following components: A bleeding tendency with thrombocytopathia, miosis, muscular weakness and spasms, ichthyosis, asplenia, dyslexia, and headache. Four definite and 2 probable patients have been identified in 4 generations. In the present study, the pupillary behaviour was scrutinized in two 'definite' cases with the infrared, binocular pupillometer. The forehead sweating pattern was also investigated with an Evaporimeter. The basal pupillary widths were: 1.25-1.75 mm. Only minor responses were noted upon topical stimulation with an indirectly acting pupillodilating agent (OH-amphetamine). A directly acting sympathicomimetic drug (phenylephrine) exerted a more marked influence on the pupil, indicating a relative supersensitivity. The evaporimetric pattern in the forehead seemed to be within reference limits, at variance with what is the case in Horner's syndrome. Further findings were: the orbit seemed to be smaller than normal; a bilateral VI. cranial nerve palsy was identified, and a marked upward gaze palsy coexisted with pupils with Argyll Robertson's traits. There is no readily acceptable explanation for the ocular abnormalities. The disorder underlying the pupillary abnormality may possibly be located in the upper mesencephalon.

Adult↗
PubMed1992

Segregation and manifestations of the mtDNA tRNA(Lys) A-->G(8344) mutation of myoclonus epilepsy and ragged-red fibers (MERRF) syndrome.

We have studied the segregation and manifestations of the tRNA(Lys) A-->G(8344) mutation of mtDNA. Three unrelated patients with myoclonus epilepsy and ragged-red fibers (MERRF) syndrome were investigated, along with 30 of their maternal relatives. Mutated mtDNA was not always found in the offspring of women carrying the tRNA(Lys) mutation. Four women had 10%-33% of mutated mtDNA in lymphocytes, and no mutated mtDNA was found in 7 of their 14 investigated children. The presence of mutated mtDNA was excluded at a level of 3:1,000. Five women had a proportion of 43%-73% mutated mtDNA in lymphocytes, and mutated mtDNA was found in all their 12 investigated children. This suggests that the risk for transmission of mutated mtDNA to the offspring increases if high levels are present in the mother and that, above a threshold level of 35%-40%, it is very likely that transmission will occur to all children. The three patients with MERRF syndrome had, in muscle, both 94%-96% mutated mtDNA and biochemical and histochemical evidence of a respiratory-chain dysfunction. Four relatives had a proportion of 61%-92% mutated mtDNA in muscle, and biochemical measurements showed a normal respiratory-chain function in muscle in all cases. These findings suggest that > 92% of mtDNA with the tRNA(Lys) mutation in muscle is required to cause a respiratory-chain dysfunction that can be detected by biochemical methods. There was a positive correlation between the levels of mtDNA with the tRNA(Lys) mutation in lymphocytes and the levels in muscle, in all nine investigated cases. The levels of mutated mtDNA were higher in muscle than in lymphocytes in all cases. In two of the patients with MERRF syndrome, muscle specimens were obtained at different times. In both cases, biochemical measurements revealed a deteriorating respiratory-chain function, and in one case a progressive increase in the amount of cytochrome c oxidase-deficient muscle fibers was found.

Adult↗
PubMed1991

[Mitochondrial diseases. Diagnostic light and electron microscopic changes in muscle biopsies from patients with mitochondrial myopathy].

Mitochondrial myopathy can be caused by several metabolic defects in the mitochondria. Cells with high levels of oxidative metabolism, such as skeletal muscle, myocardium and brain cells, are particularly vulnerable to these defects. We describe the structural changes in muscle biopsies from 49 patients with mitochondrial myopathy. The younger patients were often symptom-free, but the possibility of a genetic defect was suggested by the family history. "Ragged-red fibres" were found in 10% of the biopsies. Typical paracrystalline inclusions were seen in the mitochondria of the oldest patients. Electron-lucent matrix and increased thickness of the inner membranes of the mitochondria in particular were found in the younger patients. Disorganization of cristae, with cristolysis and unfolding of the cristae was also found. We suggest that structural mitochondrial changes in mitochondrial myopathy constitute a stepwise process and that the mitochondrial alterations of the cristae may represent an early stage in the morphogenesis of mitochondrial disease.

Age Factors↗
PubMed1991

Mitochondrial myopathy in Marinesco-Sjögren syndrome.

Myopathy represents one of the major features of Marinesco-Sjögren syndrome (MSS). Seven patients with MSS from three different families were studied with morphological and neurophysiological methods. In two patients ragged-red fibres were found after Gomori trichrome staining. Transmission electron microscopy (EM) showed that subsarcolemmal accumulation of abnormal mitochondria regularly occurred and in one patient paracrystalline inclusion bodies were found. The EMG showed myopathic changes while the nerve condition velocities were normal. A delayed normalization of exercised-induced hyperlactatemia was noted. These findings show that mitochondrial myopathic changes are present in MSS.

Adolescent↗
PubMed1991

Myopathy in Marinesco-Sjögren syndrome: an electrophysiological study.

Electrophysiological studies were performed in 7 patients with Marinesco-Sjögren syndrome in order to search for neuromuscular involvement in this multiorgan disorder. In 6 patients muscle biopsies were also obtained. Light microscopic examinations of the biopsies showed extensive myopathic changes, and in two patients ragged red fibers were found. Electron microscopy showed subsarcolemmal accumulation of abnormal mitochondria in all. Concentric needle EMG revealed unequivocal myopathic changes, more extensive in the anterior tibial than in the biceps brachii muscle. Motor and sensory conduction velocities in the peripheral nerves were normal. There were remarkably high amplitudes of sensory responses. Macro EMG studies in the biceps brachii muscle in four patients showed increased amplitude and area of the macro MUPs. This may be due to abnormal membrane function. Both electrophysiological and morphological findings confirm myopathic features of Marinesco-Sjögren syndrome.

Adolescent↗
PubMed1991

Epilepsy in a mitochondrial disorder.

In a large family with maternally inherited mitochondrial disease, a mild defect in the NADH-ubiquinone oxidoreductase step (complex 1) in the respiratory chain was found. Epilepsy was seen in nine (22%) of the 37 family members. Five of them, belonging to one branch of the family, had myoclonus epilepsy and EEG abnormalities consistent with this. The remaining four patients, belonging to other branches of the family tree, had partial epilepsy. Neurological symptoms also varied in different parts of the family. Possible explanations for the differences in phenotypic expressions are discussed.

Adolescent↗
PubMed1990

Brain perfusion with intracarotid injection of 99mTc-HM-PAO in partial epilepsy during amobarbital testing.

Technetium (99mTc) hexamethyl propylene amine oxime (HM-PAO) was injected into the internal carotid artery in ten epileptic patients after the end of amobarbital speech-memory tests. The cerebral perfusion as visualized from SPET was compared to cerebral angiographies, which showed unilateral filling of intracranial vessels in seven patients. SPET revealed cross-flow between the hemispheres in four of these seven patients. In three patients in whom the angiograms had shown bilateral contrast filling, SPET showed cross-flow in only two. It is concluded that 99mTc-HM-PAO SPET examinations provide valuable information for correct interpretation of amobarbital tests on cognitive hemisphere functions. The SPET technique may help to explain atypical speech and memory responses caused by unusual intracranial vascularization.

Adult↗
PubMed1990

Evaluation of early and late presented tasks in the intracarotid Amytal test for epileptic patients.

The temporal relation between speech and somatomotor effects was analyzed in 24 epileptic patients who underwent bilateral intracarotid Amytal tests. Furthermore, a chronological study of the task presentation was carried out. The memory test included 3 pre- and 12 post-injection items, the latter consisting of 6 words and 6 concrete pictures. Both hemispheres had low free verbal recall capacity. The speech-dominant hemisphere recognized 45% of the words and 58% of the pictures; the non-dominant side 17% and 32%, respectively. An epileptic lesion in the right temporal lobe only reduced the word recognition at a statistically significant level. Despite the early start of task presentation, both hemispheres recognized the early items almost as well as those presented later. This makes it possible for an extensive test battery which in turn helps to quantify memory capacity. If this method is used to test hemisphere memory, the possibility of interhemispheric cooperation is reduced, thereby increasing the validity of the results. The results are discussed in relation to intra- and interhemispheric communication during amobarbital sedation and regression.

Adolescent↗
PubMed1990

Early mitochondrial changes in chronic progressive ocular myopathy.

Two sisters with chronic progressive external ophthalmoplegia (CPEO) and their in all 7 healthy children were investigated. Both ophthalmoplegic patients had histopathological changes typical of mitochondrial myopathy. The same type of muscular pathology was also found among the healthy children. The most common muscular changes were subsarcolemmal accumulation of pathological mitochondria, including vacuoles, abnormal cristae and sometimes also inclusion bodies. Biochemical studies showed partial complex III deficiency, with low succinate-cytochrome c reductase activity in 1 of the ophthalmoplegic patients. These findings suggest that CPEO is a slowly progressive muscle disease, starting early in life. The widespread occurrence among the children may indicate maternal inheritance.

Adolescent↗
PubMed1989

[Experiences with ambulatory radiculography].

54 outpatients who were referred with the clinical diagnosis lumbar disk herniation, underwent lumbar myelography with iohexol. After the examination the patient returned to the ward where he was observed for about 2 hours while resting in a chair. He was then allowed to leave the hospital with the recommendation to avoid hard physical exercise for the next 24 hours. No serious complications occurred. Severe headache was reported by 20% of the patients and 22% experienced transient minor discomfort. It is concluded that lumbar iohexol myelography can be performed safely on ambulatory patients.

Adult↗
PubMed1989

Barbiturate effects on EEG abnormality in complex partial epilepsy.

Sixteen patients with drug-resistant complex partial epilepsy were, during preoperative investigations for surgical treatment, subjected to intravenous methohexital and amobarbital EEG activation tests. The interictal epileptic spike discharges were visually counted on the seizure-generating side and compared with those found in the contralateral hemisphere. The invasive recordings were made with depth electrodes implanted in the mesial temporal lobes of 5 patients, and with subdural strip electrodes in varying lateral positions over the frontotemporal-parietal lobes of the other 11 patients. The doses of 10% amobarbital, 50-200 mg, were too low to induce any significant activation. In eight patients with unilateral epileptic lesions, 10, 25 and 50 mg 1% methohexital, induced a dose-dependent increase in the interictal spiking, always higher on the side of the seizure-gererating focus. Asymmetric induction of beta activity was noted in five patients. The test gave valuable information when determining the type or location of the epileptic abnormality. Parallels were drawn with earlier studies on spike-activation tests after intracarotid amobarbital injections. Although administered differently, the barbiturates are supposed to act directly on the neurons, and not via integrative wakening mechanisms.

Adult↗
PubMed1987

The effect of progesterone and its metabolites on the interictal epileptiform discharge in the cat's cerebral cortex.

The antiepileptic effect of progesterone, 5-alpha-pregnane-3,20-dione, 3-alpha-hydroxy-5-alpha-pregnane-20-one, and 3-alpha-hydroxy-5-beta-pregnane-20-one were tested in an experimental animal model, and compared with the effect of clonazepam. The steroids were dissolved in serum from ovariectomized cats. Ovariectomized adult cats were used and spontaneous epileptic discharges were generated by placing small pieces of penicillin-soaked filter papers on the ipsi and contralateral cerebral cortex. The frequency and amplitude of the interictal epileptiform spikes were recorded, and analysed in a computer. The changes in frequency and amplitudes were calculated. The drugs were infused during 20-s periods into one cerebral hemisphere via the ipsilateral lingual artery with speeds of 1.1, 3.4 and 6.3 ml min-1. A penicillin focus on the contralateral hemisphere served as a simultaneous control. Progesterone and clonazepam showed similar inhibitory effects on epileptiform interictal spiking (median reduction of spike frequency 21%, cf. Table I). The 5-alpha-pregnane-3, 20-dione was generally less potent than progesterone (median reduction 9%) and the 5-alpha- and 5-beta-pregnanolones were two to three times more potent than progesterone (54-66% reduction). The latency of the inhibitory effect was 4-10 s measured from the entrance of the infusion into the lingual artery. The depression lasted 10-20 min. It is concluded that the pregnanolones have strong antiepileptic properties. The rapid onset of effect indicates that the steroids may interact with the neuronal function at the membrane or synaptic levels.

5-alpha-Dihydroprogesterone↗
PubMed1986

Chronic paroxysmal hemicrania. X. On the autonomic involvement.

In four patients with chronic paroxysmal hemicrania, two of whom could precipitate attacks mechanically, various autonomic function tests were carried out in connection with attacks. Not all features could be studied in all patients. Forehead sweating and temperature were measured. Sweating, tearing, and nasal secretion were studied after systemic atropine administration, which reduced attack-related sweating, tearing, and nasal secretion markedly. Intra-ocular pressure was measured before and after the topical administration of an alpha-receptor blocking agent, thymoxamine. After topical thymoxamine no definite intra-ocular pressure increase occurred during precipitated attacks. In attacks precipitated by head movements, forehead sweating occurred seconds (up to 30 sec) before the pain. This study indicates that at least in some CPH cases, forehead sweating is not caused by the pain. Nor is the pain secondary to increase in intra-ocular pressure. The thymoxamine experiments seem to indicate that alpha-receptors in some way may be connected with the intra-ocular pressure increase during attack.

Atropine↗