Novel OPA1 mutation featuring spastic paraparesis and intestinal dysmotility
A 58-year-old man with optic atrophy, spastic paraparesis, axonal sensorimotor peripheral neuropathy and intestinal dysmotility harbors a novel heterozygous missense mutation in the mitochondrial import signal peptide of OPA1. The case underscores the role of OPA1 in the pathogenesis of spastic para...
| Main Authors: | , , |
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| Format: | Article |
| Language: | English |
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Elsevier
2014-01-01
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| Series: | Molecular Genetics and Metabolism Reports |
| Subjects: | |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S2214426914000640 |
| _version_ | 1817968002548629504 |
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| author | Mohamed Kazamel Lee-Jun Wong Margherita Milone |
| author_facet | Mohamed Kazamel Lee-Jun Wong Margherita Milone |
| author_sort | Mohamed Kazamel |
| collection | DOAJ |
| description | A 58-year-old man with optic atrophy, spastic paraparesis, axonal sensorimotor peripheral neuropathy and intestinal dysmotility harbors a novel heterozygous missense mutation in the mitochondrial import signal peptide of OPA1. The case underscores the role of OPA1 in the pathogenesis of spastic paraparesis, so far reported only in very few cases, and it adds intestinal dysmotility to the spectrum of adult-onset clinical manifestation of OPA1-associated disease. |
| first_indexed | 2024-04-13T20:02:14Z |
| format | Article |
| id | doaj.art-96219e4c9315417e8b90af9e46105c51 |
| institution | Directory Open Access Journal |
| issn | 2214-4269 |
| language | English |
| last_indexed | 2024-04-13T20:02:14Z |
| publishDate | 2014-01-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Molecular Genetics and Metabolism Reports |
| spelling | doaj.art-96219e4c9315417e8b90af9e46105c512022-12-22T02:32:10ZengElsevierMolecular Genetics and Metabolism Reports2214-42692014-01-011C44344510.1016/j.ymgmr.2014.09.006Novel OPA1 mutation featuring spastic paraparesis and intestinal dysmotilityMohamed Kazamel0Lee-Jun Wong1Margherita Milone2Department of Neurology, Mayo Clinic, Rochester, MN 55902, USADepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USADepartment of Neurology, Mayo Clinic, Rochester, MN 55902, USAA 58-year-old man with optic atrophy, spastic paraparesis, axonal sensorimotor peripheral neuropathy and intestinal dysmotility harbors a novel heterozygous missense mutation in the mitochondrial import signal peptide of OPA1. The case underscores the role of OPA1 in the pathogenesis of spastic paraparesis, so far reported only in very few cases, and it adds intestinal dysmotility to the spectrum of adult-onset clinical manifestation of OPA1-associated disease.http://www.sciencedirect.com/science/article/pii/S2214426914000640DOAIntestinal dysmotilityPeripheral neuropathyOPA1Optic atrophySpastic paraparesis |
| spellingShingle | Mohamed Kazamel Lee-Jun Wong Margherita Milone Novel OPA1 mutation featuring spastic paraparesis and intestinal dysmotility Molecular Genetics and Metabolism Reports DOA Intestinal dysmotility Peripheral neuropathy OPA1 Optic atrophy Spastic paraparesis |
| title | Novel OPA1 mutation featuring spastic paraparesis and intestinal dysmotility |
| title_full | Novel OPA1 mutation featuring spastic paraparesis and intestinal dysmotility |
| title_fullStr | Novel OPA1 mutation featuring spastic paraparesis and intestinal dysmotility |
| title_full_unstemmed | Novel OPA1 mutation featuring spastic paraparesis and intestinal dysmotility |
| title_short | Novel OPA1 mutation featuring spastic paraparesis and intestinal dysmotility |
| title_sort | novel opa1 mutation featuring spastic paraparesis and intestinal dysmotility |
| topic | DOA Intestinal dysmotility Peripheral neuropathy OPA1 Optic atrophy Spastic paraparesis |
| url | http://www.sciencedirect.com/science/article/pii/S2214426914000640 |
| work_keys_str_mv | AT mohamedkazamel novelopa1mutationfeaturingspasticparaparesisandintestinaldysmotility AT leejunwong novelopa1mutationfeaturingspasticparaparesisandintestinaldysmotility AT margheritamilone novelopa1mutationfeaturingspasticparaparesisandintestinaldysmotility |