CLINICAL MOLECULAR DIAGNOSTICS OF HEREDITARY ATTAXIAS
Abstract
Aim. Learn clinical and molecular diagnostics of cerebellar ataxias.
Material and methods. In the course of expeditionary work and medical genetic monitoring, carried at the Department of Neurology and Fundamentals of Medical Genetics of ATSMU with the participation of neurogenetic (from London), studies based on a clinical examination and confirmation of the diagnosis at the molecular genetic level were conducted. It allowed taking into account the pronounced genetic heterogeneity of hereditary diseases.
Research results. Of the 12 families with various forms of cerebellar ataxia, the greatest percentage fell on the Ataxia of Friedreich, Pierre-Marie, and less often Vit E - deficient ataxia. In 37.5% of cases, cerebellar ataxia was a symptom of spastic paraplegia of Charlevoix-Saguenay, Wilson Konovalov’s disease and adrenoleukodystrophy. The phenotypic manifestation of Friedreich and Pierre-Marie’s cerebellar ataxia was genetically confirmed.
Conclusions. 1. These data illustrate the importance of clinical screening of patients with suspected hereditary ataxia.
2. Molecular, biochemical and pathomorphological analyzes complement each other, allowing to set the correct nosological diagnosis.
3. New knowledge about the pathogenesis of hereditary ataxias allows some patients to carry out the quite effective supportive pathogenetic treatment.
About the Authors
M. T. Ganievа
SEI Avicenna Tajik State Medical University
Tajikistan
Tajikistan
Ganieva Manija Timurovna - Candidate of Medical Sciences, Head of the Department of Neurology and Bases of Medical Genetics
Sh. R. Raboeva
SEI Avicenna Tajik State Medical University
Tajikistan
Tajikistan
Department of neurology and bases of medical genetics
M. B. Isaeva
SEI Avicenna Tajik State Medical University
Tajikistan
Tajikistan
Department of neurology and bases of medical genetics
M. O. Isrofilov
SEI Avicenna Tajik State Medical University
Tajikistan
Tajikistan
Department of neurology and bases of medical genetics
D. P. Zuurbekova
SEI Avicenna Tajik State Medical University
Tajikistan
Tajikistan
Department of neurology and bases of medical genetics
N. Asilova
SEI Avicenna Tajik State Medical University
Tajikistan
Tajikistan
Department of neurology and bases of medical genetics
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Review
For citations:
Ganievа M.T., Raboeva Sh.R., Isaeva M.B., Isrofilov M.O., Zuurbekova D.P., Asilova N. CLINICAL MOLECULAR DIAGNOSTICS OF HEREDITARY ATTAXIAS. Health care of Tajikistan. 2021;(1):31-35. (In Russ.)
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