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Progressive muscle atrophy with hypokalemic periodic paralysis and calcium channel mutation
Author(s) -
Meyer Thomas,
JurkatRott Karin,
Huebner Angela,
LehmannHorn Frank,
Linke Peter,
Van Landeghem Frank,
Dullinger Jörn S.,
Spuler Simone
Publication year - 2008
Publication title -
muscle and nerve
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.025
H-Index - 145
eISSN - 1097-4598
pISSN - 0148-639X
DOI - 10.1002/mus.20825
Subject(s) - hypokalemic periodic paralysis , progressive muscular atrophy , endocrinology , atrophy , amyotrophic lateral sclerosis , biology , medicine , mutation , calcium channel , neuroscience , anatomy , calcium , genetics , gene , hypokalemia , disease
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. Muscle Nerve, 2007