The primary periodic paralyses: diagnosis, pathogenesis and treatment
Abstract
Periodic paralyses (PPs) are rare inherited channelopathies that manifest as abnormal, often potassium (K)-sensitive, muscle membrane excitability leading to episodic flaccid paralysis. Hypokalaemic (HypoPP) and hyperkalaemic PP and Andersen-Tawil syndrome are genetically heterogeneous. Over the past decade mutations in genes encoding three ion channels, CACN1AS, SCN4A and KCNJ2, have been identified and account for at least 70% of the identified cases of PP and several allelic disorders. No prospective clinical studies have followed sufficiently large cohorts with characterized molecular lesions to draw precise conclusions. We summarize current knowledge of the clinical diagnosis, molecular genetics, genotype-phenotype correlations, pathophysiology and treatment in the PPs. We focus on unresolved issues including (i) Are there additional ion channel defects in cases without defined mutations? (ii) What is the mechanism for depolarization-induced weakness in Hypo PP? and finally (iii) Will detailed electrophysiological studies be able to correctly identify specific channel mutations? Understanding the pathophysiology of the potassium-sensitive PPs ought to reduce genetic complexity, allow subjects to be stratified during future clinical trials and increase the likelihood of observing true clinical effects. Ideally, therapy for the PPs will prevent attacks, avoid permanent weakness and improve quality of life. Moreover, understanding the skeletal muscle channelopathies will hopefully lead to insights into the more common central nervous system channel diseases such as migraine and epilepsy.
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Familial HKPP tends to have an onset of paralysis less than age 16, greater than 24 hours of paralysis, a familial history of paralysis, and may present with hypomagnesemia and/or hypophosphatemia.
“The latter tends to have an onset of paralysis less than age 16, have greater than 24 hours of paralysis, have a familial history of paralysis, and may present with hypomagnesemia and/or hypophosphatemia [6].”
From Thyrotoxic Periodic Paralysis With Hypokalemia: A Case Study (2023) · cites this paper as [6]
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Self-citationAndersen (2000) · doi:10.1002/1097-4598(200007)23:7
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Hypokalemic periodic paralysis
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“The latter tends to have an onset of paralysis less than age 16, have greater than 24 hours of paralysis, have a familial history of paralysis, and may present with hypomagnesemia and/or hypophosphatemia [6].”
Background
- Authors
- Venance, S. L., Cannon, S. C., Fialho, D., Fontaine, B., Hanna, M. G., Ptacek, L. J., Tristani-Firouzi, M., Tawil, R., & Griggs, R. C.
- Affiliations
- Western University (CA)
- UCL Queen Square Institute of Neurology (GB)
- Inserm (FR)
- University of Rochester (US)
- Corresponding author
- Venance, S. L.
- Venue
- Brain
- Publisher
- Oxford University Press (OUP)
- Published
- 2005-09-29
- Volume
- 129
- Issue
- 1
- Pages
- 8-17
- ISSN
- 0006-8950 (ISSN-L)
- 1460-2156
- OpenAlex
- W2144178449
- Cited by
- 370
- References
- 102
- Citations by year
- 2026: 8 · 2025: 18 · 2024: 26 · 2023: 25 · 2022: 13 · 2021: 18 · 2020: 20 · 2019: 14 · 2018: 20 · 2017: 18 · 2016: 16 · 2015: 19 · 2014: 18 · 2013: 22 · 2012: 26
- FWCI
- 1.05
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Brain (publishedVersion)
- PubMed (publishedVersion)
- UCL Discovery (University College London) (submittedVersion)
- Funders
- National Institutes of Health (1r13ns050966-01)
- National Institute of Neurological Disorders and Stroke (1R13 NS050966-01)
- National Center for Research Resources (U54RR019482, RU54 RR019482-03)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Ion channel regulation and function
- Health Sciences › Medicine › Cardiology and Cardiovascular Medicine › Cardiac electrophysiology and arrhythmias
- Health Sciences › Medicine › Pulmonary and Respiratory Medicine › Potassium and Related Disorders
- Keywords
- periodic paralysis, hypokalemic periodic paralysis, hyperkalaemic periodic paralysis, Andersen-Tawil syndrome, channelopathies, potassium channel mutations, SCN4A, KCNJ2, genotype-phenotype correlation, muscle membrane excitability
- MeSH terms
- Animals, Carbonic Anhydrase Inhibitors, Genotype, Humans, Mutation, Paralyses, Familial Periodic, Phenotype, Potassium, Potassium Channels, Sodium Channels, Ion Channel Gating, Mice, Knockout, Muscle, Skeletal, Models, Animal, Mice
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