Movement Disorders encompass a spectrum of clinical neurological phenotypes (such as parkinsonism, tremor, ataxia, dystonia, chorea, myoclonus, leukodystrophies), affecting the pediatric as well as the adult population. A significant proportion of these conditions are caused by genetic variants. The impressive advances in the field of genetics have allowed an exponential growth in the discovery of new genes associated with different movement disorders over the last decades.
Symptomatic treatments, consisting of medical approaches or surgical intervention (such as Deep Brain Stimulation) can help some of these patients, while other are still very difficult to treat, especially those with underlying progressive degenerative conditions.
Despite recent advances in the field of genetics and translational medicine, many Movement Disorders still remained undiagnosed and difficult to treat. Genetic and genomic advances (such as integrated genomic analysis, or larger screening with Whole Exome/Genome Sequencing) have allowed the discovery of new genetic variants or molecular pathways associated with genetic Movement Disorders. On the other side, the recent developments in gene therapy and new therapeutic approaches for genetic diseases, generated great expectations also for these conditions.
The present Research Topic will aim to collect original works and summarized previous literature on the entire spectrum starting with genetic counselling, challenges in interpretation of genetic testing and genetic diagnosis, as well as translational aspects of genetic approaches in Movement Disorders. Moreover, we want to show how new genetic and genomic approaches contributed to the care of patients with hereditary movement disorders, promote the discovery of new genetic variants associated with Movement Disorders and how these should be considered for the diagnosis of unsolved cases.
Additionally, we propose to explore how the discovery of new genetic variants in the field of Movement Disorders may have important therapeutic implications in the form of pathogenesis-directed therapies. This is already a reality for some neurogenerative conditions (such as gene therapy and antisense oligonucleotides for Spinal Muscular Atrophy) and promising researches are already ongoing in the context of other conditions, such as Neurodegeneration with Brain Iron accumulation or spinocerebellar ataxias.
As such, this Research Topic will aim to show the scope of the genetic evaluation of movement disorders, from genetic counselling, the advent of new genetic testing methods and challenges in interpretation, as well as translational potential of integrated genomic approaches for increasing the diagnostic yield and for therapeutic applications in the field of Movement Disorders by leveraging the following topics:
● Challenges in genetic counselling in hereditary pediatric and adult movement disorders (original articles and perspectives from genetic counsellors)
● Challenges in interpretation of new genetic testing techniques (original articles or brief communications from clinical geneticists or neurologists)
● Understanding disease-related gene variants identified through advanced genetic/genomic methods (original articles, case or cohort studies, brief communication)
● Novel pathogenesis-directed therapeutic approaches targeting gene variants, gene-mutations, or gene-related molecular pathways (original articles, brief communication)
● Gene therapy for Movement Disorders (original articles, review)
Movement Disorders encompass a spectrum of clinical neurological phenotypes (such as parkinsonism, tremor, ataxia, dystonia, chorea, myoclonus, leukodystrophies), affecting the pediatric as well as the adult population. A significant proportion of these conditions are caused by genetic variants. The impressive advances in the field of genetics have allowed an exponential growth in the discovery of new genes associated with different movement disorders over the last decades.
Symptomatic treatments, consisting of medical approaches or surgical intervention (such as Deep Brain Stimulation) can help some of these patients, while other are still very difficult to treat, especially those with underlying progressive degenerative conditions.
Despite recent advances in the field of genetics and translational medicine, many Movement Disorders still remained undiagnosed and difficult to treat. Genetic and genomic advances (such as integrated genomic analysis, or larger screening with Whole Exome/Genome Sequencing) have allowed the discovery of new genetic variants or molecular pathways associated with genetic Movement Disorders. On the other side, the recent developments in gene therapy and new therapeutic approaches for genetic diseases, generated great expectations also for these conditions.
The present Research Topic will aim to collect original works and summarized previous literature on the entire spectrum starting with genetic counselling, challenges in interpretation of genetic testing and genetic diagnosis, as well as translational aspects of genetic approaches in Movement Disorders. Moreover, we want to show how new genetic and genomic approaches contributed to the care of patients with hereditary movement disorders, promote the discovery of new genetic variants associated with Movement Disorders and how these should be considered for the diagnosis of unsolved cases.
Additionally, we propose to explore how the discovery of new genetic variants in the field of Movement Disorders may have important therapeutic implications in the form of pathogenesis-directed therapies. This is already a reality for some neurogenerative conditions (such as gene therapy and antisense oligonucleotides for Spinal Muscular Atrophy) and promising researches are already ongoing in the context of other conditions, such as Neurodegeneration with Brain Iron accumulation or spinocerebellar ataxias.
As such, this Research Topic will aim to show the scope of the genetic evaluation of movement disorders, from genetic counselling, the advent of new genetic testing methods and challenges in interpretation, as well as translational potential of integrated genomic approaches for increasing the diagnostic yield and for therapeutic applications in the field of Movement Disorders by leveraging the following topics:
● Challenges in genetic counselling in hereditary pediatric and adult movement disorders (original articles and perspectives from genetic counsellors)
● Challenges in interpretation of new genetic testing techniques (original articles or brief communications from clinical geneticists or neurologists)
● Understanding disease-related gene variants identified through advanced genetic/genomic methods (original articles, case or cohort studies, brief communication)
● Novel pathogenesis-directed therapeutic approaches targeting gene variants, gene-mutations, or gene-related molecular pathways (original articles, brief communication)
● Gene therapy for Movement Disorders (original articles, review)