[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]

Rinsho Shinkeigaku. 2016;56(2):69-76. doi: 10.5692/clinicalneurol.cn-000767. Epub 2016 Jan 9.
[Article in Japanese]

Abstract

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.

MeSH terms

  • Adult
  • Aged
  • Amyotrophic Lateral Sclerosis / complications
  • Amyotrophic Lateral Sclerosis / genetics*
  • Amyotrophic Lateral Sclerosis / pathology
  • Amyotrophic Lateral Sclerosis / physiopathology
  • Central Nervous System / pathology*
  • Central Nervous System / physiopathology
  • Female
  • Humans
  • Male
  • Middle Aged
  • Mutation
  • Neural Pathways / pathology*
  • Neural Pathways / physiopathology
  • Superoxide Dismutase-1 / genetics*
  • Time Factors
  • Urinary Tract / innervation
  • Urinary Tract / physiopathology*
  • Urination / physiology*
  • Urologic Diseases / etiology*
  • Urologic Diseases / physiopathology

Substances

  • SOD1 protein, human
  • Superoxide Dismutase-1