Clinical Neuroscience

[Neurometabolic genetic encephalo-neuro-myopathies]


SEPTEMBER 20, 1994

Clinical Neuroscience - 1994;47(09-10)

[A better understanding of the pathomechanisms of neurological pathologies requires that modem pathochemical, morphological and genetic diagnostics gain more and more ground in clinical neurology. This is an important task not only because it allows a more accurate diagnosis of pathologies, but also because it brings us closer to the point of outpatient treatment for many diseases as therapeutic options become available. Because of this the European Federation of Neurological Societies (EFNS) has set up a "Neurometabolic Panel". The task of the group is to develop uniform guidelines for the diagnosis and management of this group of diseases in Europe, to assess the level of expertise in this field in each country and to provide opportunities for collaboration between working groups. The table summarises the key steps that are essential for the diagnosis of these diseases.]



Further articles in this publication

Clinical Neuroscience

[Evaluation of gliomas by means of multi-model techniques]


[Gliomas constitute more than 50% of brain tumours. Primary malignant forms recur within 1/2 to 1 year after surgery, and even totally removed benign forms may recur. 50% of recurrent astrocytomas are more malignant than the original tumour. The time elapsing until recurrence strongly depends on the degree of malignity and the surgical removal. However, the age of the patient also plays an important role. Survival of the patient after the establishment of diagnosis also depends on the therapy. Effective treatment requires a knowledge of the degree of malignity as well as differentiation between recurrent tumour and radiation necrosis. CT and MRI scans offer high sensitivity, but poor specificity. Evaluation of tumour metabolism by means of 18F-fluoro-deoxy-glucose positron emission tomography (PET-FDG) helps to determine the degree of malignity of the gliomas, and recurrent tumour can safely be differentiated from necrosis following radiation therapy.]

Clinical Neuroscience

[Symptomps, localization of cerebral lesions and aetiology of "letter-by-letter" reading]

SÉRA László, MÁRKUS Atilla, BERNÁTH László

[The symptoms, localization of cerebral lesions and aetiology were analysed literally data of 78 patients suffering from pure alexia (letter-by-letter reading). During the 100 years since Déjerine's first case study on the issue was been published our knowledge on the clinical and pathomorphological characteristics of pure alexia has become more exact. On the one hand, clinical symptomatology has narrowed, eg. right homonymous hemianopsia is no regarded as a compulsory concomintant symptom on the other hand, the locus of damage underlying the symptoms may be at various areas of the brain (eg. subangular), not only at the occipital regions. The role of the posterior trajectory system in the reading process emphasized. In addition however, taking into account recent neuropsychological findings, the importance of other areas of the brain is presumable. In accordance with cognitive psychological research of the reading process it is concluded that it is essential the is for our understanding of the whole reading process that all of these factors are taken into consideration.]

Clinical Neuroscience

[Transoral and posterior fixation for inveterated fracture of odontoid process - Case report]


[Combined operative treatment is reported of a fixed malpositioned type III. (according to Anderson-D'Alonso) oblique anterior odontoid process fracture. Due to the ventral and dorsal compression of the spinal canal a part of the dens and a part of the body were transorally removed, and a part of the arch of the atlas also removed by a dorsal approach. The position was fixed by means of a combined method of a transoral Harms-plate and a posterior C.I.-C.II. fransarticular screwing according to Magerl. With this method were achiered proper decompression and stabile C.1.-C.II. arthrodesis.]

Clinical Neuroscience

[Cerebral aspergillosis]


[Four cases of cerebral aspergillosis are reported. Brain abscesses developed in a patient with chronic alcoholism and pyogenic urogenital process, and in a baby, treated for aplastic anaemia. Haemorrhagic necroses were found in the other two cases, one of them suffered from agressive hepatitis, the other had lymphoid leukaemia. Pulmonary alterations were observed as part of generalised aspergillosis in all the cases. Early diagnosis of pulmonary processes should be emphasized as the disease can hardly be influenced when neurologic symptoms appear.]

Clinical Neuroscience

[The effect of the cue-controlled modification of the level of vigilance on the intentional inhibition of seizure in patients with partial epilepsy]


[The cue-controlled modification of the level of vigilance, as one of the methods of self-control appeared to be a practicable therapeutic intervention for the intentional inhibition of epileptic seizures in some special cases of epilepsy. The authors worked out a variation of the above self-control technique, in which the aura imagined in hypnosis was associated with the change in vigilance in patients suffering from partial epilepsy, in order to enable them to try to inhibit the epileptic fits with this associated modification of the level of alertness during auras. The authors report two cases of intractable partial epileptic patients, in which the patients attained the application of this self-control method. The first patient carried out intentional seizure inhibition in 73 cases over one year, reducing the frequency of the fits from the previous 115 to 77. In the second case, the patient was able to decrease considerably even the number of epileptic auras by learning and applying the technique, consequently the number of auras decreased to 7 compared with the 38 fits observed in the previous 8 months, further he was able to terminate the attack in 6 cases out of auras. The authors think, that their method might be useful for a certain group of patients suffering from partial epilepsy to inhibit epileptic attacks, and would mean a new possibility in the management of intractable cases.]

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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.

Clinical Neuroscience

A variant of Guillain-Barre syndrome after SARS-CoV-2 vaccination: AMSAN

TUTAR Kaya Nurhan, EYIGÜRBÜZ Tuğba, YILDIRIM Zerrin, KALE Nilufer

Introduction - Coronavirus disease 2019 (COVID-19) is a respiratory infection that has rapidly become a global pandemic and vaccines against SARS-CoV-2 have been developed with great success. In this article, we would like to present a patient who developed Guillain-Barré syndrome (GBS), which is a serious complication after receiving the inactive SARS-CoV-2 vaccine (CoronaVac). Case report – A 76-year-old male patient presented to the emergency department with nine days of progressive limb weakness. Two weeks prior to admission, he received the second dose of CoronaVac vaccine. Motor examination revealed decreased extremity strength with 3/5 in the lower extremities versus 4/5 in the upper extremities. Deep tendon reflexes were absent in all four extremities. Nerve conduction studies showed predominantly reduced amplitude in both motor and sensory nerves, consistent with AMSAN (acute motor and sensory axonal neuropathy). Conclusion - Clinicians should be aware of the neuro­logical complications or other side effects associated with COVID-19 vaccination so that early treatment can be an option.

Clinical Neuroscience

[Tracing trace elements in mental functions]

JANKA Zoltán

[Trace elements are found in the living organism in small (trace) amounts and are mainly essential for living functions. Essential trace elements are in humans the chromium (Cr), cobalt (Co), copper (Cu), fluorine (F), iodine (I), iron (Fe), manganese (Mn), molybdenum (Mo), selenium (Se), zinc (Zn), and questionably the boron (B) and vanadium (V). According to the biopsychosocial concept, mental functions have biological underpinnings, therefore the impairment of certain neurochemical processes due to shortage of trace elements may have mental consequences. Scientific investigations indicate the putative role of trace element deficiency in psychiatric disorders such in depression (Zn, Cr, Se, Fe, Co, I), premenstrual dysphoria (Cr), schizophrenia (Zn, Se), cognitive deterioration/de­mentia (B, Zn, Fe, Mn, Co, V), mental retardation (I, Mo, Cu), binge-eating (Cr), autism (Zn, Mn, Cu, Co) and attention deficit hyperactivity disorder (Fe). At the same time, the excess quantity (chronic exposure, genetic error) of certain trace elements (Cu, Mn, Co, Cr, Fe, V) can also lead to mental disturbances (depression, anxiety, psychosis, cognitive dysfunction, insomnia). Lithium (Li), being efficacious in the treatment of bipolar mood disorder, is not declared officially as a trace element. Due to nutrition (drinking water, food) the serum Li level is about a thousand times less than that used in therapy. However, Li level in the red cells is lower as the membrane sodium-Li countertransport results in a Li efflux. Nevertheless, the possibility that Li is a trace element has emerged as studies indicate its potential efficacy in such a low concentration, since certain geographic regions show an inverse correlation between the Li level of drinking water and the suicide rate in that area. ]

Clinical Neuroscience

Cause of recurrent rhabdomyolysis, carnitine palmitoyltransferase II deficiency and novel pathogenic mutation

ÇAKAR Emel Nafiye, GÖR Zeynep, YEŞIL Gözde

Carnitine palmitoyltransferase II (CPT II) deficiency is an autosomal inherited metabolic disorder in which the β-oxidation of the long chain fatty acids is defective. The clinical presentation may be in various forms; it presents itself in the severe form during neonatal and infantile periods and as the less severe myopathic form in the school age and adolescence. While the severity of the rhabdomyolysis attacks varies, occasionally the clinical course may be complicated with acute renal failure. Acylcarnitine analysis may help in the diagnosis of CPT II, but its normality does not indicate the absence of the disease. If there is strong suspicion, genetic analysis should be performed on the cases. In this article, we present a 15-year-old male patient who had two rhabdomyolysis attacks triggered by infection and starvation. Acylcarnitine analysis of the case was normal, CPT II deficiency was considered when the history was evaluated, and CPT II gene c.137A>G (p.Gln46Arg) homozygous novel pathogenic mutation was detected. CPT II deficiency is one of the most common causes of metabolic rhabdomyolysis in patients with recurrent episodes of rhabdomyolysis.

Clinical Neuroscience

[Current questions of multiple sclerosis: the secunder progressive form of the disease]


[Recent data suggest that long-term worsening is common in relapsing-remitting multiple sclerosis patients and is largely independent of relapses or new lesion formation on brain MRI. The current definition of secunder progressive multiple sclerosis is worsening of disability independent of relapses over at least 6-month interval. Early focal inflammatory disease activity and spinal cord lesion are predictors of very-long term disease outcomes in relapse - onset multiple sclerosis. The potential of PET imaging to visualize hidden inflammation in MS brain in vivo is an important contribution for better understanding the progression of the disease. Therefore, PET imaging is a promising tool in detecting the conversion from relapsing remitting multiple sclerosis to secunder progressive form of multiple sclerosis. Furthermore, neuro-axonal damage is the pathological substrate of permanent disability in different neurological disorders including multiple sclerosis. The neurofilament proteins have promise in this context because their levels rise upon neuro-axonal damage not only in the cerebrospinal fluid but also in blood. Patients with increased serum levels of neurofilament at baseline, independent of other clinical and MRI variables, experience significantly more brain and spinal cord volume loss over 2 years and 5 years of follow-up. The kynurenine-pathway abnormalities may be associated with the swich from early-mild stage multiple sclerosis to debilitating progressive forms of the disease. Analysis of these metabolites in serum may have application as multiple sclerosis disease biomarkers. Free radical action has been suggested as a causal factor in the illness. Increased free radical production and consumption of the scavenger molecules were found during the active phase of the disease. Based on the clinical findings (EXPAND Study) and pathomechanism of the disease siponimod is approved by the US Food and Drug Administration for the treatment of relapsing remitting forms of multiple sclerosis, to include secunder progressive multiple sclerosis with active disease, relapsing-remitting multiple sclerosis and clinically isolated syndrome.]