Clinical Neuroscience

[Investigation of neuromuscular synapses in muscle diseases]


APRIL 01, 1965

Clinical Neuroscience - 1965;18(04)

[From the muscle biopsy material of our clinic, the subneural apparatus of the myoneural junction was examined in 32 cases by the Koelle acetylthiocholine method, and the neural part by the Bielschowsky-Gross-Schultze method modified by Coers. The amount of material studied by these tests is small in relation to the number of biopsies performed in our clinic. However, also according to our previous results, we have seen that in ALS the subneural apparatus is relatively uniformly smaller, with variable size in the initial stage of dystrophia musculorum progressiva, with more large, hypertrophic forms, while in the later stage we find smaller, more irregular forms. Intramuscular nerve fibres showed irregular course, thinning in ALS, and irregular, degenerative axonal swellings in dystrophies. We do not want to draw any far-reaching conclusions from the material we have examined so far, but based on the literature and our initial experience, we see that further and more extensive studies in this direction are absolutely necessary to better understand the pathology of skeletal muscle. ]


  1. Budapesti Orvostudományi Egyetem Neurológiai Klinika



Further articles in this publication

Clinical Neuroscience

[After twenty years]


[The experience of the past 20 years: in the face of our shortcomings and failures to we can continue our work in the hope of success.]

Clinical Neuroscience

[Effect of local brain hypothermia on ECoG and experimental epileptiform activation]


[Monopolar corticographic drainage was performed in dogs with chloralose narcosis after extensive craniotomy mk.o. Cooling of the brain surface was performed with circumscribed cold fluid. Brain temperature was measured with a copper-constantan thermoelectric thermometer at a depth of 2-3 mm. The experiments yielded the following results : 1. Electrocorticographic recordings could not demonstrate that certain phases of brain hypothermia are associated with an increased excitability state; 2. A different relationship between the change in locally generated strychnine spike activation and the change in baseline activity during cooling and spontaneous warming was observed; 3. The brain electrical activity activated by Tetracor during cooling was similar to that in unactivated cases. 4. local brain cooling on either side does not significantly affect either the basal opposite-side activity or the opposite-side strychnine-spike activity activated with Tetracor or generated locally, but eliminates the opposite-side mirror focus. Therefore, local brain cooling can be used as a probe to determine the primary or secondary nature of the counter-side spike activity.]

Clinical Neuroscience

[Additions to the study of the schizophrenomimetic effects of phencyclidine. Based on a self-experiment with Elysion]


[The author describes in detail his sensory and psychic hallucinogenic experiences of a schizophrenic-like symptom cluster lasting several hours, induced by intravenous phencyclidine (Elysion). ]

Clinical Neuroscience

[lzonicotinic acid hydrazide poisoning effects on the central nervous system]


[In a patient taking 250 tbl of INH "as a replacement", after a single epileptic seizure, somnolons for 3 days, gradually improving bradypsychia for 1 month, other symptoms typical of epileptic character changes, and a slowing of brain electrical activity, epileptiform potentials, which settled after two months, were observed. This process was monitored by EEG, time-lapse studies, Rorschach tests. Our observations and the literature review suggest that epileptic and psychic changes are related to a disturbance of pyridoxine-GABA metabolism. We emphasize the difficulty of recognizing INH-intoxication and its prevention. ]

Clinical Neuroscience

[The use of the modified permanganate response in the early detection of neuronal constriction in early CSF diagnosis]

DÉNES Iván, TUNKL Erika, FARAGÓ András

[The described permanganate methodology seems to be a significantly more informative method than the usual CSF test in the diagnosis of neurovascular constrictions containing low mg% CSF. In the authors' opinion, it is not the protein amount or the accumulation of certain protein fractions that is responsible for this behaviour of the reaction, but the biochemical changes that occur as a result of the space-constricting process, which the authors aim to clarify further. ]

All articles in the issue

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Clinical Neuroscience

Cases of inborn errors of metabolism diagnosed in children with autism

CAKAR Emel Nafiye, YILMAZBAS Pınar

Autism spectrum disorder is a neurodevelopmental disorder with a heterogeneous presentation, the etiology of which is not clearly elucidated. In recent years, comorbidity has become more evident with the increase in the frequency of autism and diagnostic possibilities of inborn errors of metabolism. One hundred and seventy-nine patients with diagnosis of autism spectrum disorder who presented to the Pediatric Metabolism outpatient clinic between 01/September/2018-29/February/2020 constituted the study population. The personal information, routine and specific metabolic tests of the patients were analyzed retrospectively. Out of the 3261 patients who presented to our outpatient clinic, 179 (5.48%) were diagnosed with autism spectrum disorder and were included in the study. As a result of specific metabolic examinations performed, 6 (3.3%) patients were diagnosed with inborn errors of metabolism. Two of our patients were diagnosed with classical phenylketonuria, two with classical homocystinuria, one with mucopolysaccharidosis type 3D (Sanfilippo syndrome) and one with 3-methylchrotonyl Co-A carboxylase deficiency. Inborn errors of metabolism may rarely present with autism spectrum disorder symptoms. Careful evaluation of the history, physical examination and additional findings in patients diagnosed with autism spectrum disorder will guide the clinician in the decision-making process and chose the appropriate specific metabolic investigation. An underlying inborn errors of metabolism may be a treatable cause of autism.

Clinical Neuroscience

Electrophysiological investigation for autonomic dysfunction in patients with myasthenia gravis: A prospective study


Myasthenia gravis (MG) is an autoimmune disorder of neuromuscular transmission. Autonomic dysfunction is not a commonly known association with MG. We conducted this study to evaluate autonomic functions in MG & subgroups and to investigate the effects of acetylcholinesterase inhibitors. This study comprised 30 autoimmune MG patients and 30 healthy volunteers. Autonomic tests including sympathetic skin response (SSR) and R-R interval variation analysis (RRIV) was carried out. The tests were performed two times for patients who were under acetylcholinesterase inhibitors during the current assessment. The RRIV rise during hyperventilation was better (p=0.006) and Valsalva ratio (p=0.039) was lower in control group. The SSR amplitudes were lower thereafter drug intake (p=0.030). As much as time went by after drug administration prolonged SSR latencies were obtained (p=0.043).Valsalva ratio was lower in the AchR antibody negative group (p=0.033). The findings showed that both ocular/generalized MG patients have a subclinical parasympathetic abnormality prominent in the AchR antibody negative group and pyridostigmine has a peripheral sympathetic cholinergic noncumulative effect.

Clinical Neuroscience

[What happens to vertiginous population after emission from the Emergency Department?]

MAIHOUB Stefani, MOLNÁR András, CSIKÓS András, KANIZSAI Péter, TAMÁS László, SZIRMAI Ágnes

[Background – Dizziness is one of the most frequent complaints when a patient is searching for medical care and resolution. This can be a problematic presentation in the emergency department, both from a diagnostic and a management standpoint. Purpose – The aim of our study is to clarify what happens to patients after leaving the emergency department. Methods – 879 patients were examined at the Semmel­weis University Emergency Department with vertigo and dizziness. We sent a questionnaire to these patients and we had 308 completed papers back (110 male, 198 female patients, mean age 61.8 ± 12.31 SD), which we further analyzed. Results – Based on the emergency department diagnosis we had the following results: central vestibular lesion (n = 71), dizziness or giddiness (n = 64) and BPPV (n = 51) were among the most frequent diagnosis. Clarification of the final post-examination diagnosis took several days (28.8%), and weeks (24.2%). It was also noticed that 24.02% of this population never received a proper diagnosis. Among the population only 80 patients (25.8%) got proper diagnosis of their complaints, which was supported by qualitative statistical analysis (Cohen Kappa test) result (κ = 0.560). Discussion – The correlation between our emergency department diagnosis and final diagnosis given to patients is low, a phenomenon that is also observable in other countries. Therefore, patient follow-up is an important issue, including the importance of neurotology and possibly neurological examination. Conclusion – Emergency diagnosis of vertigo is a great challenge, but despite of difficulties the targeted and quick case history and exact examination can evaluate the central or peripheral cause of the balance disorder. Therefore, to prevent declination of the quality of life the importance of further investigation is high.]

Clinical Neuroscience

Atypical presentation of late-onset Sandhoff disease: a case report

SALAMON András , SZPISJAK László , ZÁDORI Dénes, LÉNÁRT István, MARÓTI Zoltán, KALMÁR Tibor , BRIERLEY M. H. Charlotte, DEEGAN B. Patrick , KLIVÉNYI Péter

Sandhoff disease is a rare type of hereditary (autosomal recessive) GM2-gangliosidosis, which is caused by mutation of the HEXB gene. Disruption of the β subunit of the hexosaminidase (Hex) enzyme affects the function of both the Hex-A and Hex-B isoforms. The severity and the age of onset of the disease (infantile or classic; juvenile; adult) depends on the residual activity of the enzyme. The late-onset form is characterized by diverse symptomatology, comprising motor neuron disease, ataxia, tremor, dystonia, psychiatric symptoms and neuropathy. A 36-year-old female patient has been presenting progressive, symmetrical lower limb weakness for 9 years. Detailed neurological examination revealed mild symmetrical weakness in the hip flexors without the involvement of other muscle groups. The patellar reflex was decreased on both sides. Laboratory tests showed no relevant alteration and routine electroencephalography and brain MRI were normal. Nerve conduction studies and electromyography revealed alterations corresponding to sensory neuropathy. Muscle biopsy demonstrated signs of mild neurogenic lesion. Her younger brother (32-year-old) was observed with similar symptoms. Detailed genetic study detected a known pathogenic missense mutation and a 15,088 base pair long known pathogenic deletion in the HEXB gene (NM_000521.4:c.1417G>A; NM_000521:c.-376-5836_669+1473del; double heterozygous state). Segregation analysis and hexosaminidase enzyme assay of the family further confirmed the diagnosis of late-onset Sandhoff disease. The purpose of this case report is to draw attention to the significance of late-onset Sandhoff disease amongst disorders presenting with proximal predominant symmetric lower limb muscle weakness in adulthood.

Lege Artis Medicinae

[Diagnosis and treatment of microvascular coronary heart disease. Specialities of conditions in Hungary]


[Invasive investigations show that in two-thirds of patients the myocardial ischaemia persists without obstructive coronary disease and any other heart conditions (INOCA). The underlying cause may be microvascular dysfunction (CMD) with consecutive microvascular coronary disease (MVD) and microvascular or epicardial vasospastic angina (MVA). The modern practice of clinical cardiology while using the developed non-invasive cardiac imaging permits exact measuring of the coronary flow with its characteristic indices. All of these improve the diagnosing of CMD-induced myocardial ischemia and provide opportunity to determine primary MVD cases. Since the recognition and treatment of MVD is significantly underrep­resented in the Hungarian medical care, the primary stable microvascular angina (MVA) is described in detail below with its modern invasive and non-invasive differential diagnosis and treatment, concerning especially its frequency provoked by high blood pressure and female coronary heart diseases. There are highlighted all recommended diagnostic procedures available under domestic conditions.]