Case Report: Novel Arylsulfatase A (ARSA) Gene Mutations in a Patient With Adult-Onset Metachromatic Leukodystrophy Misdiagnosed as Multiple Sclerosis
Metachromatic leukodystrophy (MLD) is an autosomal recessive hereditary disorder characterized by the accumulation of sulfatide in the central and peripheral nervous systems. Herein, we present the case of an adult patient with MLD who had mild cognitive and psychiatric dysfunctions and severe visio...
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| Language: | English |
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Frontiers Media S.A.
2021-01-01
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| Series: | Frontiers in Neurology |
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| Online Access: | https://www.frontiersin.org/articles/10.3389/fneur.2020.576881/full |
| _version_ | 1818971222224928768 |
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| author | Lulu Xu Meixiang Zhong Yajuan Wang Zhihong Wang Jie Song Jing Zhao Hongyun Yu Zhencui Yang Wenjing Yan Xueping Zheng |
| author_facet | Lulu Xu Meixiang Zhong Yajuan Wang Zhihong Wang Jie Song Jing Zhao Hongyun Yu Zhencui Yang Wenjing Yan Xueping Zheng |
| author_sort | Lulu Xu |
| collection | DOAJ |
| description | Metachromatic leukodystrophy (MLD) is an autosomal recessive hereditary disorder characterized by the accumulation of sulfatide in the central and peripheral nervous systems. Herein, we present the case of an adult patient with MLD who had mild cognitive and psychiatric dysfunctions and severe vision disturbance, who was initially misdiagnosed as multiple sclerosis. Through genetic screening, this patient was later identified to have a full deletion of exon 4 and the novel p.P220L mutation in the arylsulfatase A (ARSA) gene. These mutations are reported for the first time in MLD. These data will help to update the mutation profiles of patients with MLD. |
| first_indexed | 2024-12-20T14:48:56Z |
| format | Article |
| id | doaj.art-5c96fd97ccf24f79896427bd0a5c1f8f |
| institution | Directory Open Access Journal |
| issn | 1664-2295 |
| language | English |
| last_indexed | 2024-12-20T14:48:56Z |
| publishDate | 2021-01-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Neurology |
| spelling | doaj.art-5c96fd97ccf24f79896427bd0a5c1f8f2022-12-21T19:37:02ZengFrontiers Media S.A.Frontiers in Neurology1664-22952021-01-011110.3389/fneur.2020.576881576881Case Report: Novel Arylsulfatase A (ARSA) Gene Mutations in a Patient With Adult-Onset Metachromatic Leukodystrophy Misdiagnosed as Multiple SclerosisLulu Xu0Meixiang Zhong1Yajuan Wang2Zhihong Wang3Jie Song4Jing Zhao5Hongyun Yu6Zhencui Yang7Wenjing Yan8Xueping Zheng9Department of Geriatric Medicine, The Affiliated Hospital of Qingdao University, Qingdao, ChinaDepartment of Geriatric Medicine, The Affiliated Hospital of Qingdao University, Qingdao, ChinaDepartment of Geriatric Medicine, The Qingdao Eighth People's Hospital, Qingdao, ChinaDepartment of Geriatric Medicine, The Affiliated Hospital of Qingdao University, Qingdao, ChinaDepartment of Geriatric Medicine, The Affiliated Hospital of Qingdao University, Qingdao, ChinaDepartment of Geriatric Medicine, The Affiliated Hospital of Qingdao University, Qingdao, ChinaDepartment of Geriatric Medicine, The Affiliated Hospital of Qingdao University, Qingdao, ChinaDepartment of Clinical Laboratory, The Affiliated Hospital of Qingdao University, Qingdao, ChinaDepartment of Neurology, The Affiliated Hospital of Qingdao University, Qingdao, ChinaDepartment of Geriatric Medicine, The Affiliated Hospital of Qingdao University, Qingdao, ChinaMetachromatic leukodystrophy (MLD) is an autosomal recessive hereditary disorder characterized by the accumulation of sulfatide in the central and peripheral nervous systems. Herein, we present the case of an adult patient with MLD who had mild cognitive and psychiatric dysfunctions and severe vision disturbance, who was initially misdiagnosed as multiple sclerosis. Through genetic screening, this patient was later identified to have a full deletion of exon 4 and the novel p.P220L mutation in the arylsulfatase A (ARSA) gene. These mutations are reported for the first time in MLD. These data will help to update the mutation profiles of patients with MLD.https://www.frontiersin.org/articles/10.3389/fneur.2020.576881/fullvisual dysfunctiondeletion mutationarylsulphatase Aadult onsetmetachromatic leukodystrophy |
| spellingShingle | Lulu Xu Meixiang Zhong Yajuan Wang Zhihong Wang Jie Song Jing Zhao Hongyun Yu Zhencui Yang Wenjing Yan Xueping Zheng Case Report: Novel Arylsulfatase A (ARSA) Gene Mutations in a Patient With Adult-Onset Metachromatic Leukodystrophy Misdiagnosed as Multiple Sclerosis Frontiers in Neurology visual dysfunction deletion mutation arylsulphatase A adult onset metachromatic leukodystrophy |
| title | Case Report: Novel Arylsulfatase A (ARSA) Gene Mutations in a Patient With Adult-Onset Metachromatic Leukodystrophy Misdiagnosed as Multiple Sclerosis |
| title_full | Case Report: Novel Arylsulfatase A (ARSA) Gene Mutations in a Patient With Adult-Onset Metachromatic Leukodystrophy Misdiagnosed as Multiple Sclerosis |
| title_fullStr | Case Report: Novel Arylsulfatase A (ARSA) Gene Mutations in a Patient With Adult-Onset Metachromatic Leukodystrophy Misdiagnosed as Multiple Sclerosis |
| title_full_unstemmed | Case Report: Novel Arylsulfatase A (ARSA) Gene Mutations in a Patient With Adult-Onset Metachromatic Leukodystrophy Misdiagnosed as Multiple Sclerosis |
| title_short | Case Report: Novel Arylsulfatase A (ARSA) Gene Mutations in a Patient With Adult-Onset Metachromatic Leukodystrophy Misdiagnosed as Multiple Sclerosis |
| title_sort | case report novel arylsulfatase a arsa gene mutations in a patient with adult onset metachromatic leukodystrophy misdiagnosed as multiple sclerosis |
| topic | visual dysfunction deletion mutation arylsulphatase A adult onset metachromatic leukodystrophy |
| url | https://www.frontiersin.org/articles/10.3389/fneur.2020.576881/full |
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