Progressive muscle atrophy with hypokalaemic periodic paralysis and calcium channel mutation
S Spuler, K Jurkat-Rott, A Huebner, F Lehmann-Horn, P Linke, F van Landeghem, J Dullinger, T Meyer · Aktuelle Neurologie · 2007 · Heft 09
Bibliografische Angaben
Zusammenfassung
Background: Motor neuron degeneration in conjunction with hypokalaemic periodic paralysis (HypoPP) has been recognized as distinct from HypoPP-related myopathy. Several studies have described familial cases of HypoPP that had developed a disabling motor neuron disorder resembling spinal muscle atrophy or progressive muscle atrophy (PMA). At the time of these reports, the molecular basis of HypoPP was unknown. Patients and methods: We report a patient with familial HypoPP and a fatal course of PMA. In the studied familiy HypoPP arose from a mutation in the calcium channel gene CACNA1S encoding p.R528H which has b…
