Vol 1, No 4 (2007)

Original articles

Congenital pathological tortuosity of the internal carotid artery: population screening and genetic aspects

Lobov M.A., Kаzаnchyan P.O., Illarioshkin S.N., Chechetkin A.O., Valikov E.A., Sidorova O.P., Tarаkаnоvа T.Y., Lotareva M.A., Borisova M.N.

Abstract

In the present work results of screening of different variants of pathological tortuosity of internal carotids in a general children population and in a selected group of children suffering from migraine and migraine-like headache are presented. High prevalence of pathological tortuosity of internal carotids, including hemodynamically significant variants of tortuosity in both investigated groups, is noted. Data of clinical, morphological, genealogical and genetic investigations confirmed hereditary determinancy of pathological carotid tortuosity and its interrelation with hereditary syndromal pathology of connective tissue.
Annals of Clinical and Experimental Neurology. 2007;1(4):
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Clinical and genetic characteristcs of hereditary motor and sensory neuropathy type IIA

Dadali E.L., Schagina O.A., Fedotov V.P.

Abstract

In this study, clinical manifestations of hereditary motor and sensory neuropathy type IIA (HMSN IIA, or Charcot–Marie–Tooth disease type 2A) were analyzed in 22 patients with the disease caused by different mutations of the MFN2 gene. Molecular genetic analysis showed that in the examined cohort of Russian families with axonal form of hereditary motor and sensory neuropathy, HMSN IIA accounted for 17% cases. Eighteen from 22 patients under observation were members of three large families with the disease segregating in two or more generations, which enabled us to determine the scope of clinical polymorphism of HMSN IIA, as well as to assess intra and interfamilial variability of clinical features and follow up the dynamics of clinical phenotype formation upon the disease progression.
Annals of Clinical and Experimental Neurology. 2007;1(4):
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Stiff-person syndrome with oculomotor and cerebellar disturbances

Yakhno N.N., Golubeva V.V., Mozolevsky Y.V., Zinovyeva O.E., Katushkina E.A., Shenkman B.S., Chistyakov I.N., Podlubnaya Z.A., Vikhlyanzev I.M.

Abstract

Stiff-person syndrome is a rare sporadic disorder of the central nervous system of unknown etiology. In the paper, a case of a woman with axial muscle rigidity, cerebellar and eye movement disturbances is presented. High level of autoantibodies to glutamic acid decarboxylase is detected, and electromyographic examination showed continuous motor unit activity of the axial muscles at rest. On electrophoretic investigation of muscle tissue proteins, it was shown for the first time destruction of titin and nebulin, the proteins determining elastic properties of the muscle.
Annals of Clinical and Experimental Neurology. 2007;1(4):
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Peculiarities of painful stress after neurotensin administrations in rats with toxic damage of serotoninergic brain structures

Shugalev N.P., Stavrovskaja A.V., Olshanskij A.S., Yamshikova N.G., Kalinovich E.V.

Abstract

The purpose of this study was to elucidate the influence of neurotensin on realization of locomotor reactions of passive avoidance and painful stress after actions in rats with lesion of serotoninergic brain structures. It was shown that administration of selective neurotoxin, 5,7 dihydroxytryptamine, into raphe dorsalis nucleus enhanced, while administration into substantia nigra, on the contrary, weakened reproduction of passive defence reactions at rats. In painful stress after action the neurotoxin administration into the specified brain formations caused differentdirected changes of locomotor activity of rats and its behaviour in the elevated Xmaze. Neurotensin microinjections into substantia nigra and nuclei caudatus weakened neurotensin effects and, thus, increased adaptive character of defensive behaviour in rats with deficit of serotoninergic neuron function. Alleviation, by neurotensin, of negative influence of painful stress on animal behaviour can be manifestation of anx iolitic properties of this neuropeptide and specify its protective role in emotional stress.
Annals of Clinical and Experimental Neurology. 2007;1(4):
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Glutamate receptors in neuronal and immune system cells

Davydova O.N., Boldyrev A.A.

Abstract

The role of glutamatergic system in synaptic transmission and excitotoxicity is well established. Moreover, expression of glutamate receptors in a number of non-neuronal cells, where they may perform specific, as yet unknown functions, becomes evident. While the role of glutamic acid in the non-neuronal cells is not totally understood, this compound can be considered as a specific regulatory molecule not only for the central nervous system. Actually, recent publications demonstrate that glutamate receptors expressed in lymphocytes take part in the processes of their activation. Therefore, within the framework of the well-known paradigm of interaction between nervous and immune systems, glutamate can be regarded as neuroimmune modulator. Glutamate action on the immune cells may play an important role in the pathogenesis of different diseases, especially those accompanied by inflammatory reactions and/or increased levels of glutamate in brain and peripheral blood stream.
Annals of Clinical and Experimental Neurology. 2007;1(4):
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Voxel-guided morphometry: a new method for assessment of local secondary atrophic changes of the brain

Kolesnichenko Y.A., Mashin V.V., Illarioshkin S.N., Zeitz R.J.

Abstract

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Annals of Clinical and Experimental Neurology. 2007;1(4):
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Multiple sclerosis, the version of Marburg (clinical description)

Trifonova O.V., Peresedova A.V., Zakharova M.N., Zavalishin I.A., Gulevskaya T.S., Morgunov V.A., Krotenkova M.V., Korshunov A.G., Shishkina L.V.

Abstract

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Annals of Clinical and Experimental Neurology. 2007;1(4):
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