Paroxysmal movement disorders represent a heterogeneous group of neurological conditions, such as chorea, dystonia or ataxia, characterized by episodic occurrence and normal interictal examination in between attacks. The triggering causes may differ, and therefore treatment is variable and depends on disorder pathophysiology. In the last decades, the extraordinary progress of molecular genetics has revolutionized our view and knowledge of the etiology of paroxysmal movement disorders, providing a turning point in understanding the underlying pathophysiology and defining different clinical syndromes.
These advances in the field of genetics have allowed for the identification of mutations and rare allelic variants with different penetrance and phenotype. In particular, the evolution of recent “second generation technologies”, such as high-throughput sequencing, has contributed considerably to significant breakthroughs on this topic. The advent of high-throughput sequencing techniques has allowed us to identify several monogenic forms of paroxysmal movement disorders, and a number of loci and common variants that alter the individual's susceptibility, and play a role as mild to strong risk factor. Furthermore, variable phenotypic presentations may be associated with the same genetic disorder, and this clinical variability may complicate or delay the diagnostic definition. Despite significant progress, most neurologists are not able to recognize and diagnose these disorders. Due to this, they are often classified as epileptic or functional and are not properly and promptly treated. The identification of these disorders is also relevant for family counseling.
The main goal of this Research Topic is to familiarize neurologists with paroxysmal dystonia, chorea and ataxia. We would like to focus on the recent knowledge regarding the genetic basis and neuroimaging for these disorders, as well as the contribution of recent technologies and ideas for future innovative research. We welcome submissions of Original Research, Reviews, and Brief Research Reports to this Research Topic, focusing on recent genetic discoveries and the application of NGS to paroxysmal movement disorders. We also encourage contributions assessing genotype-phenotype relations, neuroimaging data, and therapeutic trials.
Paroxysmal movement disorders represent a heterogeneous group of neurological conditions, such as chorea, dystonia or ataxia, characterized by episodic occurrence and normal interictal examination in between attacks. The triggering causes may differ, and therefore treatment is variable and depends on disorder pathophysiology. In the last decades, the extraordinary progress of molecular genetics has revolutionized our view and knowledge of the etiology of paroxysmal movement disorders, providing a turning point in understanding the underlying pathophysiology and defining different clinical syndromes.
These advances in the field of genetics have allowed for the identification of mutations and rare allelic variants with different penetrance and phenotype. In particular, the evolution of recent “second generation technologies”, such as high-throughput sequencing, has contributed considerably to significant breakthroughs on this topic. The advent of high-throughput sequencing techniques has allowed us to identify several monogenic forms of paroxysmal movement disorders, and a number of loci and common variants that alter the individual's susceptibility, and play a role as mild to strong risk factor. Furthermore, variable phenotypic presentations may be associated with the same genetic disorder, and this clinical variability may complicate or delay the diagnostic definition. Despite significant progress, most neurologists are not able to recognize and diagnose these disorders. Due to this, they are often classified as epileptic or functional and are not properly and promptly treated. The identification of these disorders is also relevant for family counseling.
The main goal of this Research Topic is to familiarize neurologists with paroxysmal dystonia, chorea and ataxia. We would like to focus on the recent knowledge regarding the genetic basis and neuroimaging for these disorders, as well as the contribution of recent technologies and ideas for future innovative research. We welcome submissions of Original Research, Reviews, and Brief Research Reports to this Research Topic, focusing on recent genetic discoveries and the application of NGS to paroxysmal movement disorders. We also encourage contributions assessing genotype-phenotype relations, neuroimaging data, and therapeutic trials.
