Spinocerebellar ataxia type 1 with cervical dystonia: clinical polymorphism or a combination of two diseases? (clinical cases)
https://doi.org/10.25789/YMJ.2024.86.24
Abstract
Autosomal dominant spinocerebellar ataxias (AD SCA) can present with a wide variety of non-cerebellar symptoms, including movement disorders. In fact, movement disorders are common in many different subtypes of SCA, and they may be present, dominant, or even an isolated feature of the disease. In this article we describe 9 clinical cases of spinocerebellar ataxia type 1, the clinical picture of which includes cervical dystonia with laterocollis. In all cases, a mutation in the ATXN1 gene was detected.
About the Authors
M. A. Varlamova
Clinic of the YSC CMP
Russian Federation
Russian Federation
Varlamova Marina Alekseevna – researcher at the Laboratory of Neurodegenerative Diseases of the Department of Epidemiology of Chronic Non-Infectious Diseases, neurologist
T. K. Davydova
Chronic Non-Infectious Diseases
Russian Federation
Russian Federation
Davydova Tatyana Kimovna – PhD, senior researcher head of the Laboratory of Department of Epidemiology
A. E. Adamova
Clinic of the YSC CMP
Russian Federation
Russian Federation
Adamova Alina Evgenievna – junior researcher at the Laboratory of Neurodegenerative Diseases of the Department of Epidemiology of Chronic Non-Infectious Diseases, neurologist, botulinum therapist
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Review
For citations:
Varlamova M.A., Davydova T.K., Adamova A.E. Spinocerebellar ataxia type 1 with cervical dystonia: clinical polymorphism or a combination of two diseases? (clinical cases). Yakut Medical Journal. 2024;(2):102-105. https://doi.org/10.25789/YMJ.2024.86.24
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