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

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

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[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.]

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[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]

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[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.]

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