A clinical case of Huntington's disease
https://doi.org/10.25789/YMJ.2024.86.29
Abstract
The article presents a clinical case of Huntington's with the aim of analyzing the causes of difficulties in making a diagnosis. The etiopathogenetic basis of the disease is given. It is noted that Huntington's disease is a disease caused by the expansion of tandem microsatellite repeats. It has been shown that as a result, a mutant huntingtin protein is synthesized, which plays an important role in the formation of the nervous system in the embryo.
A clinical case is described in a child diagnosed with Huntington's disease (Westphal form), confirmed by molecular genetic research: CAG repeats were detected in the first allele of the HTT gene. It is noted that during diagnosis, an important point is to determine the type of inheritance and determine the Sherman effect and anticipation.
About the Authors
E. A. Tkachuk
FSBEI HE Irkutsk State Medical University MH RF; FSBSI Scientific Center for Family Health Problems and Human Reproduction
Russian Federation
Russian Federation
Tkachuk Elena Anatolievna – MD, Professor, Department of Pathological Physiology and Clinical Laboratory Diagnostics, FSBEI HE Irkutsk State Medical University MH RF; senior researcher, Laboratory of Psychoneurosomatic Pathology of Childhood, FSBSI Scientific Center for Family Health Problems and Human Reproduction
Irkutsk
T. A. Astakhova
FSBSI Scientific Center for Family Health Problems and Human Reproduction
Russian Federation
Russian Federation
Astakhova Tatiana Alexandrovna – MD, PhD, Research Associate, Laboratory of Cardiovascular Pathology, Pediatrics Department.
Irkutsk
L. V. Rychkova
FGBNU Scientific Center for Family Health Problems and Human Reproduction
Russian Federation
Russian Federation
Rychkova Lyubov Vladimirovna – MD, corresponding member RAS, Director.
Irkutsk
O. V. Bugun
FSBSI Scientific Center for Family Health Problems and Human Reproduction
Russian Federation
Russian Federation
Bugun Olga Vitalievna – MD, chief physician of the Clinic.
Irkutsk
T. A. Belogorova
FGBNU Scientific Center for Family Health Problems and Human Reproduction
Russian Federation
Russian Federation
Belogorova Tatiana Albertovna – head of the neurological department of the Clinic.
Irkutsk
T. V. Taskaeva
FSBSI Scientific Center for Family Health Problems and Human Reproduction
Russian Federation
Russian Federation
Taskaeva Tatyana Vladimirovna – neurologist of the neurological department of the Clinic.
Irkutsk
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Review
For citations:
Tkachuk E.A., Astakhova T.A., Rychkova L.V., Bugun O.V., Belogorova T.A., Taskaeva T.V. A clinical case of Huntington's disease. Yakut Medical Journal. 2024;(2):116-118. https://doi.org/10.25789/YMJ.2024.86.29
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