Clinical Neuroscience

[Observations on paralysis spinalis spastica in a family]

DOBI Sándor1, GYETVAI Erzsébet1

FEBRUARY 01, 1960

Clinical Neuroscience - 1960;13(02)

[Authors observed paralysis spinalis spastica in three members of a family belonging to two generations. The onset in all three cases was adult onset. Their cases are consistent with the literature and are considered to be typical. After raising clinical differential diagnostic issues, the scarce national publications on the observation of heredo famililiaris neuropathies are highlighted.]

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  1. Gyulai Megyei Kórház Ideg-Elme Osztály

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Clinical Neuroscience

[Atypical epileptic psychoses]

PETRORINI Rezső, JUHÁSZ Pál

[We reported on 8 patients, five with depressive symptomatology, two with paranoid schizophreniform psychosis, one with abnormal drunkenness, and all with characteristic epileptic paroxysms on EEG. Two of our patients had a previous history of motor seizures 17 and 6 years ago, and one patient had epileptic character changes. The psychoses were clinically very different from those of typhoid epileptic psychosis, with similar course and response to anticonvulsant drugs. Without being able to draw conclusions on localization, the EEG was one of the expressions of organicity, other data also suggested that the presence of an organic background was evident and that this would give the direction of therapy.]

Clinical Neuroscience

[Foramen Magendie obstruction and surgical treatment]

PÁSZTOR Emil

[1. Occlusion of the FM may result from a developmental abnormality or an inflammatory process. 2. F. M. obstruction is clinically manifested by occlusive hydrocephalus and surgical intervention is aimed at removing the occlusion. 3. In cases of F.M. occlusion of inflammatory origin, given the early recurrences known from the literature and our experience, we always recommend surgery consisting of resection of the lower part of the vermis and the tonsils or medial part of the cerebellum. In our experience, this resection surgery can prevent recurrences caused by postoperative sterile inflammation.]

Clinical Neuroscience

[Control of caloric nystagmus by medication]

BODÓ György

[Among the chlorpromazines, Hibernal and Largactil reduce the nystagmus induced by the caloric stimulus at lower doses and prevent it at higher doses. In two cases of central spontaneous nystagmus of unknown origin, IV Largactil abolished both spontaneous and caloric nystagmus. One of these was also given Evipan. Evipan did not reduce calorias nystagmus. The significance of these experiments is as follows : We consider that the anti-dizziness effect of chlorpromazine through its action on the central vestibular apparatus has been proven. By testing drugs acting on the central vestibular apparatus, we can obtain a new pharmacological diagnostic procedure.]

Clinical Neuroscience

[Hemiconvulsive treatment]

SÉRA Ibolya, OSZLÁNSZKY Ottó

[Based on literature and our own experience, we described the methodology, results and benefits of hemiconvulsive treatment. We are not yet in a position to statistically evaluate the therapeutic effect of the treatment. ]

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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

REM sleep, REM parasomnias, REM sleep behaviour disorder

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We review the literature on REM parasomnias, and their the underlying mechanisms. Several REM parasomnias are consistent with sleep dissociations, where certain elements of the REM sleep pattern emerge in an inadequate time (sleep paralysis, hypnagogic hallucinations and cataplexy) or are absent/partial in their normal REM sleep time (REM sleep without atonia, underlying REM sleep behavior disorder). The rest of REM parasomnias (sleep related painful erection, catathrenia) may have other still unclear mechanisms. REM parasomnias deserve attention, because in addition to disturbing sleep and causing injuries, they may shed light on REM sleep functions as well as the heterogeneous etiologies of parasomnias. One of them, REM sleep behavior disorder has special importance as a warning sign of evolving neurodegenerative conditions mainly synucleinopathies (some cases synucleinopathies themselves) and it is a model parasomnia revealing that parasomnias may have by autoimmune, iatrogenic and even psychosomatic etiologies.

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[Results of a national survey in the field of primary care]

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[To identify recent national trends in the employment and earnings of nursing personnel in primary healthcare and determine whether salaries and wage growth are associated with changes in the employment. The cross-sectional survey was conducted between 17 May 2021 and 17 June 2021 among nurses working in general, child and family practices, and dental practices selected using a random, sampling method (N=2007). The data gathering took place using a web-based, anonymous, self-completion questionnaire. The authors analysed the gathered data with Microsoft Excel 2007 and SPSS 22.0 software, employing descriptive statistical methods. Participants are highly experienced, with 80% reporting more than 16 years of experience. 7.9% of nurses are educated at or above the baccalaureate level. The majority (89.5%) work full-time as employees of their organizations (95.4%). The GP’s territorial care obligation disparities in nurses salaries documented here should spark healthcare policymakers to conduct pay equity assessments of employees’ salaries to identify and ameliorate pay inequality. The study findings also indicate that tailoring salaries to qualification for the individual nurses may aid in recruiting and retaining nurses in practice. ]

Journal of Nursing Theory and Practice

[The Effects of the Children’s Temperament and their Parents’ Dental Fear on developing Dental Fear]

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[The aim the present study was to assess the level of dental fear among 5-7 years old children and its correlations with dental-hygienic habits and their temperament. Furthermore, the relationship of the dental fear of parents and children was also analysed. This cross-sectional study was conducted by the means of a self-constructed questionnaire in 2017. The responses of 70 people were analysed with the help of SPSS 22.0; descriptive statistics, 2-sample T-probes, Mann-Whitney probes, analyses of variance and correlations were calculated (p<0.05). High level of dental fear was detected by 30% of the included children. There was no correlation between the dental fear of the parents and their children’s. Dental fear had no effect on the frequency of tooth-brushing. Children’s dental fear had no correlation with either previous painful experiences at the dentist’s or the temperament of the child. Dental fear is present among children and not only family but dental hygienists might play an important role in reducing it. ]

Clinical Neuroscience

[The importance of patient reported outcome measures in Pompe disease]

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[In recent decades it has become increasingly important to involve patients in their diagnostic and treatment process to improve treatment outcomes and optimize compliance. By their involvement, patients can become active participants in therapeutic developments and their observations can be utilized in determining the unmet needs and priorities in clinical research. This is especially true in rare diseases such as Pompe disease. Pompe disease is a genetically determined lysosomal storage disease featuring severe limb-girdle and axial muscle weakness accompanied with respiratory insufficiency, in which enzyme replacement therapy (ERT) now has been available for 15 years. In our present study, patient reported outcome measures (PROMs) for individuals affected with Pompe disease were developed which included questionnaires assessing general quality of life (EuroQoL, EQ-5D, SF36), daily activities and motor performance (Fatigue Severity Score, R-PAct-Scale, Rotterdam and Bartel disability scale). Data were collected for three subsequent years. The PROM questionnaires were a good complement to the physician-recorded condition assessment, and on certain aspects only PROMs provided information (e.g. fatigue in excess of patients’ objective muscle weakness; deteriorating social activities despite stagnant physical abilities; significant individual differences in certain domains). The psychological effects of disease burden were also reflected in PROMs. In addition to medical examination and certain endpoints monitored by physicians, patient perspectives need to be taken into account when assessing the effectiveness of new, innovative treatments. With involvement of patients, information can be obtained that might remain uncovered during regular medical visits, although it is essential in determining the directions and priorities of clinical research. For all orphan medicines we emphasize to include patients in a compulsory manner to obtain general and disease-specific multidimensional outcome measures and use them as a quality indicator to monitor treatment effectiveness.]