Publications by authors named "Cholpon Shambetova"
Background: Until recently, about three-quarters of all monogenic Parkinson's disease (PD) studies were performed in European/White ancestry, thereby severely limiting our insights into genotype-phenotype relationships at a global scale.
Objective: To identify the multi-ancestry spectrum of monogenic PD.
Methods: The first systematic approach to embrace monogenic PD worldwide, The Michael J.
Until recently, about three-quarters of all monogenic Parkinson's disease (PD) studies were performed in European/White ancestry, thereby severely limiting our insights into genotype-phenotype relationships at global scale. The first systematic approach to embrace monogenic PD worldwide, The Michael J. Fox Foundation Global Monogenic PD (MJFF GMPD) Project, contacted authors of publications reporting individuals carrying pathogenic variants in known PD-causing genes.
View Article and Find Full Text PDFGenetic testing for non-parkinsonian movement disorders: Navigating the diagnostic maze.
Parkinsonism Relat Disord
April 2024
Genetic testing has become a valuable diagnostic tool for movement disorders due to substantial advancements in understanding their genetic basis. However, the heterogeneity of movement disorders poses a significant challenge, with many genes implicated in different subtypes. This paper aims to provide a neurologist's perspective on approaching patients with hereditary hyperkinetic disorders with a focus on select forms of dystonia, paroxysmal dyskinesia, chorea, and ataxia.
View Article and Find Full Text PDFGenetic Movement Disorders Commonly Seen in Asians.
Mov Disord Clin Pract
June 2023
Article Synopsis
- The growth of molecular genetic testing is speeding up the discovery of new disease-causing genes and expanding the symptoms linked to known genes, particularly in genetic movement disorders.
- Certain movement disorders are more common in specific ethnic groups, indicating that genetics and clinical presentations can vary across populations.
- The Movement Disorders in Asia Task Force focuses on genetic movement disorders prevalent in Asia, such as Wilson's disease and various types of ataxias, and considers how specific mutations may present differently in Asian patients compared to global averages.
Article Synopsis
- * In movement disorders, clinicians' observations are vital for understanding the varied occurrences and symptoms throughout a patient's day and disease progression.
- * The Movement Disorders in Asia Task Force aims to enhance research collaboration by reviewing nine movement disorders first described in Asia, honoring the contributions of early neurologists and scientists.
Nongenetic movement disorders are common throughout the world. The movement disorders encountered may vary depending on the prevalence of certain disorders across various geographical regions. In this paper, we review historical and more common nongenetic movement disorders in Asia.
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