Abstract
A family with hypokalemic periodic paralysis (HypoPP) and motor neuron degeneration is reported. In conjunction with HypoPP, the index patient developed progressive muscle atrophy. The calcium channel gene CACNA1S showed a mutation encoding p.R528H, which has been related previously to HypoPP. We propose that CACNA1S mutations may comprise a previously unrecognized genetic risk factor in a greater spectrum of motor unit disorders including amyotrophic lateral sclerosis.
Publication types
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Case Reports
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Research Support, Non-U.S. Gov't
MeSH terms
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Adult
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Aged
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Calcium Channels / genetics*
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Calcium Channels, L-Type
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DNA Mutational Analysis
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Female
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Genetic Markers / genetics
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Genetic Predisposition to Disease / genetics*
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Genetic Testing
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Genotype
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Humans
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Hypokalemic Periodic Paralysis / complications
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Hypokalemic Periodic Paralysis / genetics*
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Hypokalemic Periodic Paralysis / physiopathology
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Male
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Motor Neuron Disease / complications
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Motor Neuron Disease / genetics*
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Motor Neuron Disease / physiopathology
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Muscle, Skeletal / metabolism
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Muscle, Skeletal / pathology
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Muscle, Skeletal / physiopathology
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Muscular Atrophy / complications
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Muscular Atrophy / genetics*
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Muscular Atrophy / physiopathology
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Mutation / genetics*
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Pedigree
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Risk Factors
Substances
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CACNA1S protein, human
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Calcium Channels
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Calcium Channels, L-Type
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Genetic Markers