Progressive muscle atrophy with hypokalemic periodic paralysis and calcium channel mutation.
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.
Meyer
Thomas
T
Department of Neurology, Charité University Hospital, Berlin, Germany. thomas.meyer@charite.de
Jurkat-Rott
Karin
K
Huebner
Angela
A
Lehmann-Horn
Frank
F
Linke
Peter
P
Van Landeghem
Frank
F
Dullinger
Jörn S
JS
Spuler
Simone
S
D000328:Adult; D000368:Aged; D015220:Calcium Channels / Q000235:genetics*; D020746:Calcium Channels, L-Type; D004252:DNA Mutational Analysis; D005260:Female; D005819:Genetic Markers / Q000235:genetics; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005820:Genetic Testing; D005838:Genotype; D006801:Humans; D020514:Hypokalemic Periodic Paralysis / Q000150:complications / Q000235:genetics* / Q000503:physiopathology; D008297:Male; D016472:Motor Neuron Disease / Q000150:complications / Q000235:genetics* / Q000503:physiopathology; D018482:Muscle, Skeletal / Q000378:metabolism / Q000473:pathology / Q000503:physiopathology; D009133:Muscular Atrophy / Q000150:complications / Q000235:genetics* / Q000503:physiopathology; D009154:Mutation / Q000235:genetics*; D010375:Pedigree; D012307:Risk Factors
C412223:CACNA1S protein, human; D015220:Calcium Channels; D020746:Calcium Channels, L-Type; D005819:Genetic Markers