Rinsho Shinkeigaku (Clinical Neurology)

Original Article

Lower urinary tract dysfunction and neuropathological findings of the neural circuits controlling micturition in familial amyotrophic lateral sclerosis with L106V mutation in the SOD1 gene

Akiyo Hineno, M.D., Ph.D.1)2), Kiyomitsu Oyanagi, M.D., Ph.D.3), Akinori Nakamura, M.D., Ph.D.1)4), Yoshio Shimojima, M.D., Ph.D.5), Kunihiro Yoshida, M.D., Ph.D.6) and Shu-ichi Ikeda, M.D., Ph.D.1)

1)Department of Medicine (Neurology and Rheumatology), Shinshu University School of Medicine
2)Department of Neurology, Suwa Red-Cross Hospital
3)Division of Neuropathology, Department of Brain Disease Research, Shinshu University School of Medicine
4)Intractable Disease Care Center, Shinshu University Hospital
5)Department of Neurology, Iida Municipal Hospital
6)Division of Neurogenetics, Department of Brain Disease Research, Shinshu University School of Medicine

We report lower urinary tract dysfunction and neuropathological findings of the neural circuits controlling micturition in the patients with familial amyotrophic lateral sclerosis having L106V mutation in the SOD1 gene. Ten of 20 patients showed lower urinary tract dysfunction and 5 patients developed within 1 year after the onset of weakness. In 8 patients with an artificial respirator, 6 patients showed lower urinary tract dysfunction. Lower urinary tract dysfunction and respiratory failure requiring an artificial respirator occurred simultaneously in 3 patients. Neuronal loss and gliosis were observed in the neural circuits controlling micturition, such as frontal lobe, thalamus, hypothalamus, striatum, periaqueductal gray, ascending spinal tract, lateral corticospinal tract, intermediolateral nucleus and Onufrowicz' nucleus. Lower urinary tract dysfunction, especially storage symptoms, developed about 1 year after the onset of weakness, and the dysfunction occurred simultaneously with artificial respirator use in the patients.
Full Text of this Article in Japanese PDF (954K)

(CLINICA NEUROL, 56: 69|76, 2016)
key words: amyotrophic lateral sclerosis, lower urinary tract dysfunction, L106V, SOD1, neuropathology

(Received: 28-May-15)