Clinical Neuroscience

[CALPAIN-3 GENE DEFECT CAUSING LIMB GIRD MUSCULAR DYSTROPHY IN A HUNGARIAN FAMILY]

HORVÁTH Rita1, WALTER C. Maggie2, LOCHMÜLLER Hanns2, HÜBNER Angela3, KARCAGI Veronika4, PIKÓ Henriett4, TÍMÁR László4,5, KOMOLY Sámuel1

JANUARY 20, 2005

Clinical Neuroscience - 2005;58(01-02)

[Limb gird muscular dystrophies (LGMD2) are a clinically and genetically heterogeneous group of hereditary diseases with autosomal recessive trait, characterized by progressive atrophy and weakness predominantly in the proximal limb muscles. The authors present clinical, histological, immunohistochemical and immunoblot results of two sisters suffering from so far unclassified autosomal recessive limb girdle muscular dystrophy. Haplotype analysis for genes possibly involved in autosomal recessive limb girdle muscular dystrophies was performed in the genetically informative family. All of the results pointed to a molecular genetic defect of the calpain-3 (CAPN3) gene. Direct sequencing of the CAPN3 gene revealed compound hetereozygous state for two mutations previously described in association with limb girdle muscular dystrophy, proving pathogenity. The authors would like to emphasize the importance of the above described combined strategy in diagnosing limb girdle muscular dystrophies.]

AFFILIATIONS

  1. Jahn Ferenc Dél-pesti Kórház, Neurológiai Osztály, Budapest
  2. Friedrich Baur Institut, Department of Neurology, Ludwig Maximilians University, München
  3. Department of Pediatrics, Technical University, Drezda
  4. Fodor József Országos Közegészségügyi Központ-Országos Közegészségügyi Intézet, Molekuláris Genetikai és Diagnosztikai Osztály, Budapest
  5. Országos Gyermekegészségügyi Intézet, Budapest

COMMENTS

0 comments

Further articles in this publication

Clinical Neuroscience

[DIZZINESS - VERTIGO WARNING SYMPTOMS IN VERTEBROBASILAR ISCHEMIA PART II.]

FAZEKAS András

[Dizziness and vertigo - like headache - are the most common complaints which lead patients to visit the doctor. In spite of the headache - which may be primary (e.g. migraine) or symptomatic - dizziness and vertigo do not appear to be a separate nosologic entity but rather the symptoms of several neurological disorders. For differential diagnosis, interdisciplinary thinking and activity is needed because the vestibular, neurological and psychiatric disorders might have a common role in the development of symptoms and further overlapping can also occur. The vascular disorders of the vertebrobasilar system are discussed in detail in this review. The importance, occurrence and causes of vertigo as a warning symptom is in the focus. The author draws attention to life-threatening conditions with acute onset in cases of the posterior scale ischemia and emphasizes the importance of the correct and early diagnosis. The author tries to clear up the nihilistic aspect in treating of stroke and stresses the necessity of thrombolysis and interventional radiological procedures which may be the only chance for the recovery of the patients. The pharmacological prevention of recurrent vascular events is also important and obligatory for the clinicians.]

Clinical Neuroscience

[CHRONIC INFLAMMATORY POLYNEUROPATHIES]

BENICZKY Sándor, VÉCSEI László

[There is an increasing number of peripheral nerve disorders with inflammatory and immune mechanisms involved. The precise diagnosis is of utmost importance, since these patients can be successfully treated. Unfortunately, there is no specific marker for any disease of this group. The diagnosis therefore relies on the appropriate consideration of the clinical, neurophysiological and laboratory data, which requires in-depth knowledge of these diseases. In this paper we review the diagnostic criteria and treatment strategies for the major types of chronic inflammatory polyneuropathies.]

Clinical Neuroscience

[THE PERISYLVIAN EPILEPTIC NETWORK A unifying concept]

HALÁSZ Péter, KELEMEN Anna, CLEMENS Béla, SARACZ Judit, ROSDY Beáta, RÁSONYI György, SZŰCS Anna

[In this work the authors provide evidences for a unifying concept of the syndromes of benign focal childhood epilepsies, Landau-Kleffner syndrome, and electrical status epilepticus in sleep treating them as a spectrum of disorders with a common transient, age dependent, non lesional, genetically based epileptogenic abnormality, the nature of which is still not known. The electro-clinical features of these syndromes are congruent with the different degree involvement of the perisylvian cognitive network and with the involvement of the thalamo-cortical associative system of variable degree. These epilepsies are characterized by the abundance of regional epileptiform discharges in sharp contrast with the rare and in several cases lacking seizures. The nature and severity of interictal cognitive symptoms are closely related to localization within the network and amount of epileptic interictal discharges. Spike-wave discharges are attributed to an alternation of overexcitation (spikes) and overinhibition (waves). The recurrent overinhibition represented by the wave of the discharges may interfere with the continuous depolarization of the cells of a large population of neurons, which is a requirement of the overt seizures. The overinhibition also interfere with cognitive processes which are correlated with the continuous presence of the fast (gamma) activity, binding the required cortical areas. Hence the recurrent inhibition works against the existence of the binding fast frequency activity. This is the assumed reason for the co-existence of the relative lack of overt seizures and in the same time for the frequently observed epileptogenic cognitive deficit symptoms ("cognitive epilepsies"). The time course of these syndromes overlaps with important developmental milestones. The frequent epileptic discharges alters the evolution of the perisylvian network developing late after early childhood and is very vulnerable for any interference in this imprinting time for speech and other cognitive functions. This spectrum of disorders represents a type of age linked, mild to severe ‘epileptic encephalopathy’ limited to the perisylvian network, where the cognitive impairment is underlied by epileptic discharges interfering with cognitive development.]

Clinical Neuroscience

[EXAMINATION OF NATURAL COAGULATION INHIBITOR PROTEINS IN THE ACUTE PHASE OF ISCHAEMIC ST]

OLÁH László, CSÉPÁNY Tünde, BERECZKY Zsuzsanna, KERÉNYI Adrienne, MISZ Mária, KAPPELMAYER János, CSIBA László

[Introduction - Decreased activity of natural anticoagulants (antithrombin-III, protein C, protein S) rarely causes cerebral ischaemia, however it can be found frequently in acute phase of ischaemic stroke. The authors’ aim was to investigate whether the decreased activity of natural anticoagulants is accompanied by worsening of symptoms in ischaemic stroke. Patients and method - Sixty-eight acute ischaemic stroke patients were investigated. Severity of symptoms were assessed and followed by the NIH Stroke Scale. Antithrombin- III, protein C, protein S activities, and concentration of C-reactive protein (CRP) were measured within 48 hours after onset of ischaemic stroke. Results - Progressing stroke was found in 29% of patients. Decreased activity of at least one natural anticoagulant proteins was present in 31% of patients. Progression of stroke symptoms occured in 76% of patients with decreased natural anticoagulant activity, while this proportion was only 9% in those with normal natural coagulation inhibitor protein activity (p<0.01). Progressing stroke was also more frequent in patients with elevated CRP value (60%) than in those with normal CRP level (11%; p<0.05). Decreased activity of natural anticoagulants was more frequent in patients with elevated CRP concentration compared with patients with normal CRP. Conclusion - The results demonstrate the importance of decreased activity of natural anticoagulants in acute phase of ischaemic stroke. This abnormality was present in about 1/3 of stroke patients. The decreased activity of natural coagulant inhibitor proteins may play an important role in development of progressing stroke thus indicating unfavourable outcome.]

Clinical Neuroscience

[EXPERIMENTAL DEMYELINATION CAUSED BY PRIMARY OLIGODENDROCYTE DYSTROPHY Regional distribution of the lesions in the nervous system of mice brain]

KOMOLY Sámuel

[Background and purpose - Heterogeneity of multiple sclerosis lesions has been recently indicated: In addition to T-cell-mediated or T-cell plus antibody-mediated autoimmune mechanisms (patterns I-II) two other patterns (III-IV) were described. Patterns III-IV are characterized by primary oligodendrocyte dystrophy, reminiscent of virus- or toxin-induced demyelination rather than autoimmunity. It was described more than 30 years ago that dietary application of a copper-chelating agent called cuprizone results in primary oligodendrocyte degeneration which is followed by demyelination. The aim of the present study was to examine the regional distribution of cuprizone induced oligodendrocyte dystrophy and demyelination in the nervous system of mice. Material a methods - Demyelination was induced in male weanling Swis-Webster mice by feeding them on a diet containing 0.6% (W/W) cuprizone bis(cyclohexanone)-oxalyldihydrazone (G. F. Smith Chemical, Columbus OH) for 8 weeks. Animals were sacrificed after 3, 7, 14, 27, 35, 56 days of cuprizone administration. Samples were taken from corpus callosum, anterior commissure, optic nerve, cervical spinal cord and sciatic nerve. Samples were examined by immunohistochemistry, in situ hybridization for myelin proteins and myelin protein mRNA-s, respectively. Conventional neuropathological stainings and electron microscopy was also performed. Results - Oligodendrocyte degeneration and demyelination followed a particular standard pattern in the central nervous system. Profound myelin loss developed in the superior cerebellar peduncle, anterior comissure and corpus callosum, whereas the optic nerves, velum medullare anterior and spinal cord showed little or no demyelination. Sciatic nerves were unaffected. No infiltration by lymphocytes or blood-brain barrier damage was observed during cuprizone treatment. Conclusion - Cuprizone induced oligodendrocyte damage and demyelination follows a particular standard pattern in the central nervous system of mice. Cuprizone induced demyelination might be considered as a model for human demyelinating disorders with primary oligodendrocyte dystrophy and apoptosis.]

All articles in the issue

Related contents

Clinical Neuroscience

[The Comprehensive Aphasia Test in Hungarian]

ZAKARIÁS Lilla, RÓZSA Sándor, LUKÁCS Ágnes

[In this paper we present the Comprehensive Aphasia Test-Hungarian (CAT-H; Zakariás and Lukács, in preparation), an assessment tool newly adapted to Hungarian, currently under standardisation. The test is suitable for the assessment of an acquired language disorder, post-stroke aphasia. The aims of this paper are to present 1) the main characteristics of the test, its areas of application, and the process of the Hungarian adaptation and standardisation, 2) the first results from a sample of Hungarian people with aphasia and healthy controls. Ninety-nine people with aphasia, mostly with unilateral, left hemisphere stroke, and 19 neurologically intact control participants were administered the CAT-H. In addition, we developed a questionnaire assessing demographic and clinical information. The CAT-H consists of two parts, a Cognitive Screening Test and a Language Test. People with aphasia performed significantly worse than the control group in all language and almost all cognitive subtests of the CAT-H. Consistent with our expectations, the control group performed close to ceiling in all subtests, whereas people with aphasia exhibited great individual variability both in the language and the cognitive subtests. In addition, we found that age, time post-onset, and type of stroke were associated with cognitive and linguistic abilities measured by the CAT-H. Our results and our experiences clearly show that the CAT-H provides a comprehensive profile of a person’s impaired and intact language abilities and can be used to monitor language recovery as well as to screen for basic cognitive deficits in aphasia. We hope that the CAT-H will be a unique resource for rehabilitation professionals and aphasia researchers in aphasia assessment and diagnostics in Hungary. ]

Lege Artis Medicinae

[Focus on Lege Artis Medicinae (LAM)]

VASAS Lívia, GEGES József

[Three decades ago, LAM was launched with the goal of providing scientific information about medicine and its frontiers. From the very beginning, LAM has also concerned a special subject area while connecting medicine with the world of art. In the palette of medical articles, it remained a special feature to this day. The analysis of the history of LAM to date was performed using internationally accepted publication guidelines and scientific databases as a pledge of objectivity. We examined the practice of LAM if it meets the main criteria, the professional expectations of our days, when publishing contents of the traditional printed edition and its electronic version. We explored the visibility of articles in the largest bibliographic and scientific metric databases, and reviewed the LAM's place among the Hun­ga­rian professional journals. Our results show that in recent years LAM has gained international reputation des­pite publishing in Hungarian spoken by a few people. This is due to articles with foreign co-authors as well as references to LAM in articles written exclusively by foreign researchers. The journal is of course full readable in the Hungarian bibliographic databases, and its popularity is among the leading ones. The great virtue of the journal is the wide spectrum of the authors' affiliation, with which they cover almost completely the Hungarian health care institutional sys­tem. The special feature of its columns is enhanced by the publication of writings on art, which may increase Hungarian and foreign interest like that of medical articles.]

Lege Artis Medicinae

[Thiazide- or thiazide-like diuretics should be used in the treatment of patients with hypertension? Particularities of the situation in Hungary]

VÁLYI Péter

[Diuretics have remained the cornerstone of the antihypertensive treatment since their widespreading in the 1960s. According to the 2018 ESC/ESH Guidelines for the management of arterial hypertension, in the absence of evidence from direct comparator trials and recognizing that many of the approved single-pill combinations are based on hydrochlorothiazide, this drug and thiazide-like indapamide can be considered suitable antihypertensive agents. In the 2018 Hungarian guidelines indapamide is named as the most efficacious diuretic in the treatment of patients with hypertension. The aim of the publication is redefining thiazide- and thiazide-like diuretic use in the treatment of hypertensive patients, with particular attention to presently available hydrochlorothia­zide and indapamide, and their combination drugs in Hungary.]

Lege Artis Medicinae

[LAM 30: 1990–2020. Facing the mirror: Three decades of LAM, the Hungarian medicine and health care system]

KAPÓCS Gábor

Lege Artis Medicinae

[A short chronicle of three decades ]

KAPRONCZAY Katalin

[Hungarian professional periodicals started quite late in European context. Their publish­ing, editing and editorial philosophy were equally influenced by specific historical and political situations. Certain breaking points of history resulted in termina­tion of professional journals (War of In­de­pendence 1848-1849, First and Se­cond World Wars), however there were pe­riods, which instigated the progress of sciences and founding of new scientific journals. Both trends were apparent in years after the fall of former Hungarian regime in 1990. The structure of book and journal publishing has changed substantially, some publishers fell “victim” others started successfully as well. The latters include the then-established publishing house Literatura Medica and its own scientific journal, Lege Artis Me­di­cinae (according to its subtitle: New Hun­garian Medical Herald) issued first in 1990. Its appearance enhanced significantly the medical press market. Its scientific publications compete with articles of the well-established domestic medical journals however its philosophy set brand-new trends on the market. Concerning the medical community, it takes on its problems and provides a forum for them. These problems are emerging questions in health care, economy and prevention, in close interrelation with system of public health institutions, infrastructure and situation of those providing individual health services. In all of them, Lege Artis Medicinae follows consequently the ideas of traditional social medicine.]