An autopsy case of amyotrophic lateral sclerosis with prominent muscle cramps, fasciculation, and high titer of anti-voltage gated potassium channel (VGKC) complex antibody

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  • Sato Aki
    Department of Neurology, Niigata City General Hospital
  • Sakai Naoko
    Department of Neurology, Niigata City General Hospital Present Address: Department of Neurology, Niigata University
  • Shinbo Junsuke
    Department of Neurology, Niigata City General Hospital
  • Hashidate Hideki
    Department of Pathology, Niigata City General Hospital
  • Igarashi Shuichi
    Department of Neurology, Niigata City General Hospital
  • Kakita Akiyoshi
    Department of Pathology, Brain Research Institute, Niigata University
  • Yamazaki Motoyoshi
    Department of Neurology, Niigata City General Hospital Present Address: Department of Neurology, Toukamachi Hospital, Niigata Prefectural Hospital

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Other Title
  • 著明な筋痙攣・線維束性収縮をともない抗voltage gated potassium channel（VGKC）複合体抗体が高値であった筋萎縮性側索硬化症の1剖検例
  • 症例報告 著明な筋痙攣・線維束性収縮をともない抗voltage gated potassium channel (VGKC)複合体抗体が高値であった筋萎縮性側索硬化症の1剖検例
  • ショウレイ ホウコク チョメイ ナ キンケイレン ・ センイ ソクセイ シュウシュク オ トモナイ コウvoltage gated potassium channel (VGKC)フクゴウタイ コウタイ ガ タカネ デ アッタ キン イシュクセイ ソクサク コウカショウ ノ 1 ボウケンレイ

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Abstract

The patient was a 55-year-old male who had prominent fasciculation and muscle cramps. Muscle weakness and atrophy of the trunk, respiratory system, and extremities gradually progressed. On the basis of these features, we diagnosed this patient as having amyotrophic lateral sclerosis (ALS), however, the upper motor neuron signs were not significant. Following the detection of the anti-voltage gated potassium channel (VGKC) complex antibody at 907.5 pM (normal < 100 pM) and repetitive discharge in a nerve conduction study, immunotherapy with intravenous immunoglobulin, methylprednisolone (mPSL), double filtration plasmapheresis (DFPP), ciclosporin, and rituximab was introduced. mPSL and DFPP showed only tentative effectiveness for fasciculation and muscle cramps, respectively. Thereafter, muscle weakness progressed. The patient died of type II respiratory failure at the age of 57 years, about 2 years after the onset of the disease. At autopsy, a histopathological diagnosis of ALS with lower-motor-predominant degeneration was made. Characteristic cellular features, including Bunina bodies in the remaining lower motor neurons and phosphorylated TAR DNA-binding protein 43-kDa (pTDP-43)-immunopositive inclusions in both upper and lower motor neuron systems, were evident. At present, an immunological role of the anti-VGKC complex antibody in the development of cramp-fasciculation syndrome has been speculated. In this ALS patient, the antibodies might be associated with pathomechanisms underlying the characteristic symptoms.

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