Hereditary ataxias: spinocerebellar ataxia type 2 (clinical case)
https://doi.org/10.24412/2790-1289-2022-4-7579
Abstract
This article will present a clinical case of a patient with hereditary spinocerebellar ataxia type 2 (SCA-type 2). Spinocerebellar ataxia is a group of hereditary progressive cerebellar ataxias, numbering over 40 subspecies, manifested in the form of cerebellar, oculomotor and speech disorders.
Keywords
ataxia,
cerebellar ataxia,
hereditary ataxia,
molecular diagnostics,
new generation sequencing,
spinocerebellar ataxia
Supporting agencies: Financing absent
About the Author
I. Em
Medical Center «Yesmed Clinic» ; NEI «Kazakh-Russian Medical University»
Kazakhstan
Kazakhstan
Igor Em
Almaty
References
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Review
For citations:
Em I. Hereditary ataxias: spinocerebellar ataxia type 2 (clinical case). Actual Problems of Theoretical and Clinical Medicine. 2022;(4):75-79. (In Russ.) https://doi.org/10.24412/2790-1289-2022-4-7579
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