Accumulation of transportin 1 in the fused in sarcoma‐positive neuronal inclusions in sporadic amyotrophic lateral sclerosis without FUS mutation. Issue 5 (1st April 2015)

• Record Type: Journal Article
• Authors: Tokushige, Shin‐ichi; Sasaki, Takuya; Hatsuta, Hiroyuki; Uchino, Akiko; Kakuta, Yukio; Shimizu, Jun; Tsuji, Shoji; Nakayama, Takahiro; Imafuku, Ichiro; Murayama, Shigeo
• Is Part Of: Neurology and clinical neuroscience. Volume 3:Issue 5(2015)
• Page Start: 194
• Page End: 196
• Publication Date: 2015-04-01
• Subjects: Neurology -- Periodicals; Neurosciences -- Periodicals; 616.8
• DOI: 10.1111/ncn3.181
• Languages: English
• ISSNs: 2049-4173

Abstract

<abstract abstract-type="main" id="ncn3181-abs-0001"> <title>Abstract</title> <p>We describe a female patient with sporadic amyotrophic lateral sclerosis (ALS) with fused in sarcoma (FUS)‐immunoreactive neuronal inclusions. She presented with weakness mainly in the upper extremities that had started at the age of 53 years. She died at the age of 61 years. Neuronal loss and gliosis accompanying FUS‐positive neuronal cytoplasmic inclusions involved the upper and lower motor neurons, brainstem motor neurons, basal ganglia, substantia nigra, cerebellar dentate nuclei, thalamus, hypothalamic nuclei, and red nuclei. Most of these inclusions were positive for transportin 1, in a pattern similar to frontotemporal lobar degeneration with FUS and different from familial ALS‐FUS. Mutational analysis showed no mutations in the FUS gene. Our findings show that transportin 1 accumulates in the FUS‐positive inclusions in sporadic ALS‐FUS.</p> </abstract>