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The primary periodic paralyses: diagnosis, pathogenesis and treatment
S L Venance1, S C Cannon, D Fialho
1Department of Clinical Neurological Sciences, London Health Sciences Centre, London, ON, Canada. shannon.venance@lhsc.on.ca
Brain : a Journal of Neurology
|October 1, 2005
Summary
Periodic paralyses (PPs) are rare inherited muscle disorders affecting membrane excitability. Research focuses on genetic causes, diagnosis, and treatments to improve quality of life.
Area of Science:
- Neurology
- Genetics
- Molecular Biology
Background:
- Periodic paralyses (PPs) are rare inherited channelopathies characterized by abnormal muscle membrane excitability, often sensitive to potassium (K+).
- Hypokalaemic (HypoPP), hyperkalaemic PP, and Andersen-Tawil syndrome are genetically heterogeneous disorders.
- Mutations in CACN1AS, SCN4A, and KCNJ2 genes explain over 70% of identified PP cases.
Purpose of the Study:
- To summarize current knowledge on the clinical diagnosis, molecular genetics, genotype-phenotype correlations, pathophysiology, and treatment of PPs.
- To address unresolved issues, including identifying additional genetic defects, understanding depolarization-induced weakness in HypoPP, and the role of electrophysiology in mutation identification.
- To provide a foundation for future clinical trials and therapeutic development for PPs.
Main Methods:
- Review and synthesis of existing literature on periodic paralyses.
- Analysis of identified gene mutations (CACN1AS, SCN4A, KCNJ2) and their associated disorders.
- Focus on unresolved questions in PP pathophysiology and diagnosis.
Main Results:
- Significant progress has been made in identifying genetic causes of PPs, with mutations in three key ion channel genes identified in a majority of cases.
- Several unresolved questions remain regarding the genetic basis, pathophysiology, and diagnostic approaches for PPs.
- Understanding potassium-sensitive PPs is crucial for stratifying patients in clinical trials and developing effective therapies.
Conclusions:
- Further research is needed to identify additional genetic causes and elucidate the precise mechanisms underlying PP.
- Improved understanding of PP pathophysiology will facilitate targeted therapies, aiming to prevent attacks and permanent muscle weakness.
- Insights from skeletal muscle channelopathies may inform our understanding of central nervous system channel diseases like epilepsy and migraine.
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