title: [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].
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.
authors.affiliation: Department of Medicine (Neurology and Rheumatology), Shinshu University School of Medicine.
authors.forename: Akiyo
authors.initials: A
authors.lastname: Hineno
authors.forename: Kiyomitsu
authors.initials: K
authors.lastname: Oyanagi
authors.forename: Akinori
authors.initials: A
authors.lastname: Nakamura
authors.forename: Yoshio
authors.initials: Y
authors.lastname: Shimojima
authors.forename: Kunihiro
authors.initials: K
authors.lastname: Yoshida
authors.forename: Shu-Ichi
authors.initials: S
authors.lastname: Ikeda
mesh_terms: D000328:Adult; D000368:Aged; D000690:Amyotrophic Lateral Sclerosis / Q000150:complications / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D002490:Central Nervous System / Q000473:pathology* / Q000503:physiopathology; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D009434:Neural Pathways / Q000473:pathology* / Q000503:physiopathology; D000072105:Superoxide Dismutase-1 / Q000235:genetics*; D013997:Time Factors; D014551:Urinary Tract / Q000294:innervation / Q000503:physiopathology*; D014554:Urination / Q000502:physiology*; D014570:Urologic Diseases / Q000209:etiology* / Q000503:physiopathology
chemical_list: C000606290:SOD1 protein, human; D000072105:Superoxide Dismutase-1