About this Research Topic
Genetic-induced metal accumulation and environmental or occupational exposure to neurotoxic substances like heavy metals and industrial chemicals similarly pose serious risks to neural health, often presenting with movement and balance disorders, and cognitive impairment.
Wilson's disease, a rare inheritable disorder of copper metabolism, presents unique clinical challenges through excessive copper accumulation not only in the blood but also in various organs like the liver, kidneys, bones, and brain. This leads to a broad spectrum of clinical symptoms including movement disorders, mood changes, and cognitive impairment, alongside liver and skeletal issues. Hemochromatosis is another metal metabolism disorder that includes serious neurological manifestations. Moreover, neurotoxin accumulation or exposure can derive from environmental or occupational sources. Neurological impairment may be influenced by the genetic status, background, the biological activity of the neurotoxins, and the acute vs cumulative dose of metal or neurotoxin uptake. Research on the pathophysiology of metal accumulation and neurotoxicological processes will possibly shed light on the further development of sensitive biomarkers and pave the way for potential therapeutic advances including symptom prevention.
Goal
This Research Topic aims to provide a comprehensive exploration of the neurological aspects of metal accumulation (as Wilson´s disease or hemochromatosis) and neurotoxin exposure, including underlying genetic predisposition, clinical manifestations, treatment strategies, and long-term management. By addressing critical topics related to genotype-phenotype correlations, the differences in disease outcomes between homozygotic twins, potential side effects of long-term therapy, and other clinically relevant aspects such as compliance, we aim to deepen our understanding of the complexities surrounding the neurological aspect of these diseases. We believe this Research Topic will be a valuable resource for the medical and research community, contributing to improved patient care and better outcomes for individuals exposed to metal accumulation and neurotoxins.
Scope and information for authors
To gather further insights into the neurological manifestations of Wilson’s Disease, metal accumulation, and neurotoxin exposure, we welcome the submission of various types of manuscripts supported by the journal (including Brief Research Reports, Perspective, Mini-Review, Original Research, Systematic Reviews, etc.) addressing, but not limited to, the following themes:
- Early Postnatal Diagnosis and Mutation Panels: Evaluating the significance of early diagnosis using mutation panels to facilitate timely interventions and improve long-term outcomes.
- Genotype-Phenotype Correlations: Investigating the relationship between specific genetic variations and the clinical neurological presentation before initiation of personalized treatment approaches.
- Initiation of Conservative Treatment and Liver Transplantation: Assessing the effectiveness of conservative treatment strategies and the role of liver transplantation as a rescue therapy for neurological involvement in acute and subacute liver failure.
- Long-Term Therapy and Side Effects: Examining the implications of prolonged use of neuropharmacological treatments, and strategies to minimize adverse effects while maintaining therapeutic efficacy.
- Non-Compliance and Treatment Monitoring: Addressing challenges related to long-term treatment adherence and the selection of sensitive biomarkers for effective treatment monitoring.
- Differences in outcome in special subgroups of patients and Homozygotic Twins: Exploring the variations in disease progression and severity between twins with identical genetic makeup to identify potential factors influencing neurological disease outcomes.
- Comorbidities, malignancies, and rare disease combinations: Investigating the association of Wilson's disease (or other metal accumulation diseases) with comorbid neurological conditions, including exceptional cases with rare comorbidities such as myasthenia gravis or multiple sclerosis.
- Age-dependent neurological changes and Life Expectancy: Examining the neurological progression with age, the potential development of new age-dependent neurological symptoms, and their impact on life expectancy.
Articles accepted after peer review will be published and appear online as soon as approved for publication.
Wilson's disease, a rare inheritable disorder of copper metabolism, presents unique clinical challenges through excessive copper accumulation not only in the blood but also in various organs like the liver, kidneys, bones, and brain. This leads to a broad spectrum of clinical symptoms including movement disorders, mood changes, and cognitive impairment, alongside liver and skeletal issues. Hemochromatosis is another metal metabolism disorder that includes serious neurological manifestations. Moreover, neurotoxin accumulation or exposure can derive from environmental or occupational sources. Neurological impairment may be influenced by the genetic status, background, the biological activity of the neurotoxins, and the acute vs cumulative dose of metal or neurotoxin uptake. Research on the pathophysiology of metal accumulation and neurotoxicological processes will possibly shed light on the further development of sensitive biomarkers and pave the way for potential therapeutic advances including symptom prevention.
Goal
This Research Topic aims to provide a comprehensive exploration of the neurological aspects of metal accumulation (as Wilson´s disease or hemochromatosis) and neurotoxin exposure, including underlying genetic predisposition, clinical manifestations, treatment strategies, and long-term management. By addressing critical topics related to genotype-phenotype correlations, the differences in disease outcomes between homozygotic twins, potential side effects of long-term therapy, and other clinically relevant aspects such as compliance, we aim to deepen our understanding of the complexities surrounding the neurological aspect of these diseases. We believe this Research Topic will be a valuable resource for the medical and research community, contributing to improved patient care and better outcomes for individuals exposed to metal accumulation and neurotoxins.
Scope and information for authors
To gather further insights into the neurological manifestations of Wilson’s Disease, metal accumulation, and neurotoxin exposure, we welcome the submission of various types of manuscripts supported by the journal (including Brief Research Reports, Perspective, Mini-Review, Original Research, Systematic Reviews, etc.) addressing, but not limited to, the following themes:
- Early Postnatal Diagnosis and Mutation Panels: Evaluating the significance of early diagnosis using mutation panels to facilitate timely interventions and improve long-term outcomes.
- Genotype-Phenotype Correlations: Investigating the relationship between specific genetic variations and the clinical neurological presentation before initiation of personalized treatment approaches.
- Initiation of Conservative Treatment and Liver Transplantation: Assessing the effectiveness of conservative treatment strategies and the role of liver transplantation as a rescue therapy for neurological involvement in acute and subacute liver failure.
- Long-Term Therapy and Side Effects: Examining the implications of prolonged use of neuropharmacological treatments, and strategies to minimize adverse effects while maintaining therapeutic efficacy.
- Non-Compliance and Treatment Monitoring: Addressing challenges related to long-term treatment adherence and the selection of sensitive biomarkers for effective treatment monitoring.
- Differences in outcome in special subgroups of patients and Homozygotic Twins: Exploring the variations in disease progression and severity between twins with identical genetic makeup to identify potential factors influencing neurological disease outcomes.
- Comorbidities, malignancies, and rare disease combinations: Investigating the association of Wilson's disease (or other metal accumulation diseases) with comorbid neurological conditions, including exceptional cases with rare comorbidities such as myasthenia gravis or multiple sclerosis.
- Age-dependent neurological changes and Life Expectancy: Examining the neurological progression with age, the potential development of new age-dependent neurological symptoms, and their impact on life expectancy.
Articles accepted after peer review will be published and appear online as soon as approved for publication.
Keywords: Wilson's disease, copper metabolism, genotype-phenotype correlation, mutation panels, treatment, genetic predisposition, diagnosis, neurological manifestations, neurotoxicity, heavy metal accumulation
Important Note: All contributions to this Research Topic must be within the scope of the section and journal to which they are submitted, as defined in their mission statements. Frontiers reserves the right to guide an out-of-scope manuscript to a more suitable section or journal at any stage of peer review.
