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• Vol.54 No.5
• CLINICA NEUROL, 54: 434−439, 2014
• Vol.54 No.5 contents

Case Report

Normokalemic periodic paralysis lasting for two weeks: a severe form of sodium channelopathy with M1592V mutation

Kensuke Shiga, M.D.¹⁾, Ikuko Mizuta, M.D.²⁾, Yu-ichi Noto , M.D.²⁾, Masanori Nakagawa, M.D.³⁾, Ryogen Sasaki, M.D.⁴⁾ and Masanaga Yamawaki, M.D.¹⁾

¹⁾Department of Medical Education, Kyoto Prefectural University of Medicine
²⁾Department of Neurology, Kyoto Prefectural University of Medicine
³⁾North medical Center, Kyoto Prefectural University of Medicine
⁴⁾Department of Neurology, Mie University

A 73-year-old man with recurrent periodic paralytic episodes lasting for two weeks each admitted to our hospital because of the leg weakness and the elevated value of serum creatine kinase. On admission, weakness in the proximal legs and mild eye lid myotonia were noted. Needle electromyography revealed abundant myotonic discharges. The prolonged exercise test showed a continuous reduction of compound muscle action potentials in the abductor digiti minimi muscle. Direct sequencing of SCN4A in the proband showed a G-to-A alteration at position 4774 that results in achange of 1592^nd methionine to valine (M1592V). Cosegregation regarding the M1592V mutation and paralytic phenotype in this family was confirmed. Two cardinal features in this family were longer paralytic episodes compared to classical hyperkalemic/normokalemic periodic paralysis and the normal potassium value during the paralytic episodes. This study together with antecedent reports indicates that M1592V mutation shares a much greater clinical diversity ranging from congenital paramyotonia to periodic paralysis with a longer duration.
Full Text of this Article in Japanese PDF (1671K)

(CLINICA NEUROL, 54: 434−439, 2014)
key words: periodic paralysis, voltage-gated sodium channel, segregaton study, clinical heterogeneity

(Received: 5-Sep-13)