Rinsho Shinkeigaku (Clinical Neurology)

Case Report

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

Aki Sato, M.D., Ph.D.1), Naoko Sakai, M.D.1)3), Junsuke Shinbo, M.D., Ph.D.1), Hideki Hashidate, M.D., Ph.D.2), Shuichi Igarashi, M.D. Ph.D.1), Akiyoshi Kakita, M.D., Ph.D.5) and Motoyoshi Yamazaki, M.D.1)4)

1)Department of Neurology, Niigata City General Hospital
2)Department of Pathology, Niigata City General Hospital
3)Present Address: Department of Neurology, Niigata University
4)Present Address: Department of Neurology, Toukamachi Hospital, Niigata Prefectural Hospital
5)Department of Pathology, Brain Research Institute, Niigata University

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.
Full Text of this Article in Japanese PDF (11578K)

(CLINICA NEUROL, 54: 32|37, 2014)
key words: amyotrophic lateral sclerosis (ALS), anti-VGKC complex antibody, fasciculation, muscle cramp, autopsy

(Received: 20-Mar-13)