Severe brain atrophy after long-term survival seen in siblings with familial amyotrophic lateral sclerosis and a mutation in the <it>optineurin </it>gene: a case series
<p>Abstract</p> <p>Introduction</p> <p>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. Ho...
| Main Authors: | , , , , , |
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| Format: | Article |
| Language: | English |
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BMC
2011-12-01
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| Series: | Journal of Medical Case Reports |
| Online Access: | http://www.jmedicalcasereports.com/content/5/1/573 |
| _version_ | 1828739506852855808 |
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| author | Ueno Hiroki Kobatake Keitaro Matsumoto Masayasu Morino Hiroyuki Maruyama Hirofumi Kawakami Hideshi |
| author_facet | Ueno Hiroki Kobatake Keitaro Matsumoto Masayasu Morino Hiroyuki Maruyama Hirofumi Kawakami Hideshi |
| author_sort | Ueno Hiroki |
| collection | DOAJ |
| description | <p>Abstract</p> <p>Introduction</p> <p>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.</p> <p>Case presentation</p> <p>The patients were a Japanese brother and sister. The elder sister was 33 years of age at the onset of disease, which began with muscle weakness of her left lower limb. Two years later she required mechanical ventilation. She became bedridden at the age of 34, and died at the age of 57. A computed tomography scan of her brain at the age of 36 revealed no abnormality. Atrophy of her brain gradually progressed. Ten years after the onset of mechanical ventilation, atrophy of her whole brain, including the cerebral cortex, brain stem and cerebellum, markedly progressed. Her younger brother was 36 years of age at the onset of disease, which presented as muscle weakness of his left upper limb. One year later, he showed dysphagia and dysarthria, and tracheostomy ventilation was performed. He became bedridden at the age of 37 and died at the age of 55. There were no abnormal intracranial findings on brain computed tomography scans obtained at the age of 37 years. At the age of 48 years, computed tomography scans showed marked brain atrophy with ventricular dilatation. Subsequently, atrophy of the whole brain rapidly progressed as in his elder sister.</p> <p>Conclusion</p> <p>We conclude that a homozygous deletion-type mutation in the optineurin gene may be associated with widespread multisystem degeneration in amyotrophic lateral sclerosis.</p> |
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| format | Article |
| id | doaj.art-a737a648d8a74bc7bf5b83dbcc98a059 |
| institution | Directory Open Access Journal |
| issn | 1752-1947 |
| language | English |
| last_indexed | 2024-04-13T00:22:40Z |
| publishDate | 2011-12-01 |
| publisher | BMC |
| record_format | Article |
| series | Journal of Medical Case Reports |
| spelling | doaj.art-a737a648d8a74bc7bf5b83dbcc98a0592022-12-22T03:10:42ZengBMCJournal of Medical Case Reports1752-19472011-12-015157310.1186/1752-1947-5-573Severe brain atrophy after long-term survival seen in siblings with familial amyotrophic lateral sclerosis and a mutation in the <it>optineurin </it>gene: a case seriesUeno HirokiKobatake KeitaroMatsumoto MasayasuMorino HiroyukiMaruyama HirofumiKawakami Hideshi<p>Abstract</p> <p>Introduction</p> <p>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.</p> <p>Case presentation</p> <p>The patients were a Japanese brother and sister. The elder sister was 33 years of age at the onset of disease, which began with muscle weakness of her left lower limb. Two years later she required mechanical ventilation. She became bedridden at the age of 34, and died at the age of 57. A computed tomography scan of her brain at the age of 36 revealed no abnormality. Atrophy of her brain gradually progressed. Ten years after the onset of mechanical ventilation, atrophy of her whole brain, including the cerebral cortex, brain stem and cerebellum, markedly progressed. Her younger brother was 36 years of age at the onset of disease, which presented as muscle weakness of his left upper limb. One year later, he showed dysphagia and dysarthria, and tracheostomy ventilation was performed. He became bedridden at the age of 37 and died at the age of 55. There were no abnormal intracranial findings on brain computed tomography scans obtained at the age of 37 years. At the age of 48 years, computed tomography scans showed marked brain atrophy with ventricular dilatation. Subsequently, atrophy of the whole brain rapidly progressed as in his elder sister.</p> <p>Conclusion</p> <p>We conclude that a homozygous deletion-type mutation in the optineurin gene may be associated with widespread multisystem degeneration in amyotrophic lateral sclerosis.</p>http://www.jmedicalcasereports.com/content/5/1/573 |
| spellingShingle | Ueno Hiroki Kobatake Keitaro Matsumoto Masayasu Morino Hiroyuki Maruyama Hirofumi Kawakami Hideshi Severe brain atrophy after long-term survival seen in siblings with familial amyotrophic lateral sclerosis and a mutation in the <it>optineurin </it>gene: a case series Journal of Medical Case Reports |
| title | Severe brain atrophy after long-term survival seen in siblings with familial amyotrophic lateral sclerosis and a mutation in the <it>optineurin </it>gene: a case series |
| title_full | Severe brain atrophy after long-term survival seen in siblings with familial amyotrophic lateral sclerosis and a mutation in the <it>optineurin </it>gene: a case series |
| title_fullStr | Severe brain atrophy after long-term survival seen in siblings with familial amyotrophic lateral sclerosis and a mutation in the <it>optineurin </it>gene: a case series |
| title_full_unstemmed | Severe brain atrophy after long-term survival seen in siblings with familial amyotrophic lateral sclerosis and a mutation in the <it>optineurin </it>gene: a case series |
| title_short | Severe brain atrophy after long-term survival seen in siblings with familial amyotrophic lateral sclerosis and a mutation in the <it>optineurin </it>gene: a case series |
| title_sort | severe brain atrophy after long term survival seen in siblings with familial amyotrophic lateral sclerosis and a mutation in the it optineurin it gene a case series |
| url | http://www.jmedicalcasereports.com/content/5/1/573 |
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