About this Research Topic
Hereditary movement disorders constitute a substantial part of neurogenetics. The next generation sequencing (NGS) revolution in the last decade has resulted in ever-growing availability of genetic testing, allowing for a better diagnostic yield in patients with hereditary movement disorders. Moreover, the improved diagnostic capabilities have revealed intricate genotype-phenotype correlations in genes associated with these conditions. Despite these advancements, a molecular diagnosis cannot be found in a significant proportion of patients with hereditary movement disorders, and other aspects, such as predicting the prognosis and the choice of tailored interventions are pivotal challenges in these patients. Novel technologies and large-scale data analysis may improve our understanding of the pathophysiology of hereditary movement disorders and may increase the diagnostic yield and allow better therapeutic strategies in patients suffering from these conditions.
The present research topic will focus on the current challenges and recent advancements in the field of monogenic hereditary movement disorders. It will include works that highlight current diagnostic, prognostic and therapeutic challenges in these disorders, such as diagnostic yield, genotype-phenotype correlation, genotype-driven prognosis prediction and genotype-guided therapeutic decisions. Furthermore, it will highlight studies that investigate the use of novel approaches and technologies, both molecular and data-driven, to overcome these challenges. These may include long-read sequencing, RNA-based investigations, additional omics approaches, and ways to investigate genotype-phenotype correlation, as well as large databases analysis and artificial intelligence-based approaches, among others.
This research topic will include original works, review summaries and series concerning all types of hereditary monogenic movement disorders, which highlight current challenges and emerging advancements in the following topics:
* Applying novel strategies and approaches to improve the diagnostic yield in monogenic movement disorders.
* Challenges and advancements in constructing follow-up and therapeutic strategies for patients with hereditary movement disorders and their relatives.
* The use of novel methods or large-scale data analysis to improve the understanding of pathophysiology and prognostic data and to develop therapeutic strategies in patients with monogenic hereditary movement disorders.
* Discoveries and challenges in genotype-phenotype correlations in monogenic movement disorders.
* Challenges and novel discoveries in the analysis and re-analysis of genetic data in patients with hereditary movement disorders.
* Potential treatments
The present research topic will focus on the current challenges and recent advancements in the field of monogenic hereditary movement disorders. It will include works that highlight current diagnostic, prognostic and therapeutic challenges in these disorders, such as diagnostic yield, genotype-phenotype correlation, genotype-driven prognosis prediction and genotype-guided therapeutic decisions. Furthermore, it will highlight studies that investigate the use of novel approaches and technologies, both molecular and data-driven, to overcome these challenges. These may include long-read sequencing, RNA-based investigations, additional omics approaches, and ways to investigate genotype-phenotype correlation, as well as large databases analysis and artificial intelligence-based approaches, among others.
This research topic will include original works, review summaries and series concerning all types of hereditary monogenic movement disorders, which highlight current challenges and emerging advancements in the following topics:
* Applying novel strategies and approaches to improve the diagnostic yield in monogenic movement disorders.
* Challenges and advancements in constructing follow-up and therapeutic strategies for patients with hereditary movement disorders and their relatives.
* The use of novel methods or large-scale data analysis to improve the understanding of pathophysiology and prognostic data and to develop therapeutic strategies in patients with monogenic hereditary movement disorders.
* Discoveries and challenges in genotype-phenotype correlations in monogenic movement disorders.
* Challenges and novel discoveries in the analysis and re-analysis of genetic data in patients with hereditary movement disorders.
* Potential treatments
Keywords: hereditary movement disorders, genotype-phenotype, monogenic movement disorders, genetic data, hereditary monogenic movement disorders
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