Title |
Severe brain atrophy after long-term survival seen in siblings with familial amyotrophic lateral sclerosis and a mutation in the optineurin gene: a case series
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Published in |
Journal of Medical Case Reports, December 2011
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DOI | 10.1186/1752-1947-5-573 |
Pubmed ID | |
Authors |
Hiroki Ueno, Keitaro Kobatake, Masayasu Matsumoto, Hiroyuki Morino, Hirofumi Maruyama, Hideshi Kawakami |
Abstract |
Previous studies have shown widespread multisystem degeneration in patients with sporadic amyotrophic lateral sclerosis who develop a total locked-in state and survive under mechanical ventilation for a prolonged period of time. However, the disease progressions reported in these studies were several years after disease onset. There have been no reports of long-term follow-up with brain imaging of patients with familial amyotrophic lateral sclerosis at an advanced stage of the disease. We report the cases of siblings with amyotrophic lateral sclerosis with homozygous deletions of the exon 5 mutation of the gene encoding optineurin, in whom brain computed tomography scans were followed up for more than 20 years. |
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