The neurological symptoms clinical diagnostics role in patients with genetic diseases

  • M. A. Trishchynskaya Shupyk National Medical Academy of postgraduate education Kyiv, Ukraine
  • V. A. Svystilnyk Shupyk National Medical Academy of postgraduate education Kyiv, Ukraine
Keywords: neurodegenerative diseases diagnostics, glucose transporter type I deficiency syndrome

Abstract

The purpose of the study. The aim of the publication was to make analysis neurological symptoms peculiarities in patients with the glucose transporter type I deficiency syndrome and to make differential diagnostics with other diseases. There are main clinical symptoms in the patients with glucose transporter type I deficiency syndrome. They include attacks of seizures, movement disorders: paresis, plegia, paroxysmal induced dyskinesias, ballismus, tremor, athetosis, dystonia, ataxia. The glucose transporter type I deficiency syndrome clinical characteristics have been added by the delays of the movement, cognitive development, behavior disorders, head ache. Hardness of the clinical symptoms may fluctuate during a day and depends from the period of eating. The plan for differentiation diagnostics and identification of the neurodegenerative diseases was presented in the article.

References

Aicardi J, Hanefeld F. Nasledstvennye degenerativnye zabolevanija. In the book: Aicardi J (ed.), Bax M, Gillberg Ch. et al. Zabolevanija nervnoy sistemy u detey (vol. 1). Moskva, Izdatelstvo Panfilova. BINOM Laboratorija znaniy, 2013, pp. 360–420.

Trishchynskaya МA, Dziak LA, Glumcher FS. Infuzionnaya terapiya pri nevrologicheskich zabolevaniyah. In the book: Glumcher FS (ed.), Kligunenko ЕN, Dziak LA et al. InfuzionnoTransfuzionnaya terapija (uchebnoe posobie dlia vrachey). Kyiv, Izdatel Zaslavskiy A, 2018, pp. 366–400.

Svystilnyk VO. Ketogenna dieta – metod likuvannia refracternyh form epilepsiy u ditey. Liky Ukrainy plus. 2014; 1 (18): 38-40.

Abbott NJ, Ronnback L, Hansson E. Astrocyte-endothelial interactions at the bloodbrain barrier. Nat Rev Neurosci. 2006; 7 (1): 41–53. DOI:10.1038/nrn1824.

Abi-Saab WM, Maggs DG, Jones T et al. Striking differences in glucose and lactate levels between brain extracellular fluid and plasma in conscious human subjects: effects of hyperglycemia and hypoglycemia. J Cereb Blood Flow Metab. 2002; 22 (3): 271–279. DOI: 10.1097/00004647-200203000-00004.

Arsow T, Mullen SA, Rogers S, Phillips AM et al. Glucose transporter type I deficiency in the idiopathic generalized epilepsies. Ann Neurol. 2012; 72 (5): 807–815. DOI: 10.1002/ana.23702.

Ebbink BJ, Poelman E, MD, Plug I et al. Cognitive decline in classic infantile Pompe disease: an underacknowledged challenge. Neurology. 2016; 86: 1260–1261. DOI: 10.1016/j. ymgme.2015.12.244.

Bruick RK, McKnight SL. A conserved family of prolyl-4-hydroxylases that modify HIF. Science. 2001; 294:1337–1340. DOI: 10.1126/science.1066373.

Chavez JC, LaManna JC. Activation of hypoxia-inducible factor-1 in the rat cerebral cortex after transient global ischemia: potential role of insulin-like growth factor-1. J Neurosci. 1993, 22: 8922–8931.

Crosiers O, Goethem G Van. Phenotypic spectrum of movement disorders in 18p deletion syndrome. European Journal of Neurology, 2018; 25; (Suppl. 2): 90–276.

Del Zoppo GJ. Aging and the neurovascular unit. Ann NY Acad Sci 2012; 1268: 127–133. DOI: 10.1111/j.1749-6632.2012.06686.x.

Deane R, Segal MB. The transport of sugars Стаття надійшла до редакції 12.02.2019 across the perfused choroid plexus of the sheep. J Physiol. 1985; 362: 245–260.

Doege H, Sch rmann A, Bahrenberg G et al. Glucose transporter 8 (GLUT8): a novel sugar facilitator with glucose transport activity. J Biol Chem. 2000; 275: 16275–16280.

Dudzinska M. Dieta w chorobach neurologicznych. In the book: Postepy w diagnostyce i leczheniu chorob ukladu nerwowego u dzieci. Opracowane zbirowe Sergiusza Jozwiaka (ed). Lublin, Wydawnyctwo Bifolium, 2017, pp. 143–159.

Emily de los Reyes. Neurodevelopmental disorders. Shawn Aylward, Dennis Cunningham. Manual of pediatric neurology. Ed. Pedro Weisleder. New Jersey, World scientific Publishing Co. Pte. Ltd, 2012, pp. 81–87.

Iadecola C. The pathobiology of vascular dementia. Neuron. 2013; 80 (4): 844–866. DOI: 10.1016/j.neuron.2013.10.008.

Marques-Matos C, Leao M. Diagnostic yield of Next Generation Sequencing (NGS) technology applied to Neurological disorders. European Journal of Neurology. 2018; 25; (Suppl. 2): 90–276.

Neuwelt EA, Bauer B, Fahlke C et al. Engaging neuroscience to advance translational research in brain barrier biology. Nat Rev Neurosci. 2011; 12 (3): 169–182. DOI: 10.1038/nrn2995.

Pike M. Opsoclonus-myoclonus syndrome. Handb Clin Neurol. 2013;112:1209–1211. DOI: 10.1016/B978-0-444-52910-7.00042-8.

Pearson TS, Pons R, Engelstad K et al. Paroxysmaleye-headmovementsinGlut1deficiency syndrome. Neurology. 2017; 88 (17):1666–1673. DOI: 10.1212/WNL.0000000000003867.

Regina A, Morchoisne S, Borson ND et al. Factor (s) released by glucose-deprived astrocytes enhance glucose transporter expression and activity in rat brain endothelial cells. Biochim Biophys Acta 2001; 1540 (3): 233–242.

Semenza GL: Oxygen-dependent regulation of mitochondrial respiration by hypoxia-inducible factor 1. Biochem J. 2007; 405 (1):1–9. DOI: 10.1042/BJ20070389.

Semenza GL. HIF-1: mediator of physiological and pathophysiological responses to hypoxia. J Appl Physiol. 2000; 88 (4): 1474–1480. DOI: 10.1152/jappl.2000.88.4.1474.

Simpson IA, Carruthers A, Vannucci SJ. Supply and demand in cerebral energy metabolism: the role of nutrient transporters. J Cereb Blood Flow Metab. 2007; 27 (11): 1766–1791. DOI:10.1038/sj.jcbfm.9600521. УДК 616.94:616-001.36-089:616-001.17]-08

Published
2019-08-20
How to Cite
Trishchynskaya, M. A., & Svystilnyk, V. A. (2019). The neurological symptoms clinical diagnostics role in patients with genetic diseases. Modern Medical Technology, (2(41), 69-73. https://doi.org/10.34287/MMT.2(41).2019.42
Section
Reviews of literature, lections