Spinal muscular atrophy with progressive myoclonic epilepsy: A case report from China with new ASAH1 variants
We report a case of a Chinese girl who presented with multiple seizure types of epilepsy, followed by motor and intellectual regression, vision impairment, and cerebral and cerebellar atrophy. She carries an unreported compound heterozygous variant of the ASAH1 gene and is diagnosed with spinal musc...
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| Format: | Article |
| Language: | English |
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Elsevier
2025-01-01
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| Series: | Heliyon |
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| Online Access: | http://www.sciencedirect.com/science/article/pii/S2405844024170636 |
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| author | Xiaojing Yin Jinghe Shi Daoqi Mei Jianmei Guo Tingting Ma Yuna Gao Li Wang Jie Deng |
| author_facet | Xiaojing Yin Jinghe Shi Daoqi Mei Jianmei Guo Tingting Ma Yuna Gao Li Wang Jie Deng |
| author_sort | Xiaojing Yin |
| collection | DOAJ |
| description | We report a case of a Chinese girl who presented with multiple seizure types of epilepsy, followed by motor and intellectual regression, vision impairment, and cerebral and cerebellar atrophy. She carries an unreported compound heterozygous variant of the ASAH1 gene and is diagnosed with spinal muscular atrophy associated with progressive myoclonic epilepsy (SMA-PME), a disorder in which ceramide accumulation in lysosomes due to a decrease in acid ceramidase activity. This case suggests attention to this rare class of deceases involving both the central and peripheral nervous systems. |
| format | Article |
| id | doaj-art-f0e36dc4918f4217a589acec6fec546d |
| institution | Kabale University |
| issn | 2405-8440 |
| language | English |
| publishDate | 2025-01-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Heliyon |
| spelling | doaj-art-f0e36dc4918f4217a589acec6fec546d2025-01-17T04:50:01ZengElsevierHeliyon2405-84402025-01-01111e41032Spinal muscular atrophy with progressive myoclonic epilepsy: A case report from China with new ASAH1 variantsXiaojing Yin0Jinghe Shi1Daoqi Mei2Jianmei Guo3Tingting Ma4Yuna Gao5Li Wang6Jie Deng7Department of Neurology, Children's Hospital Affiliated to Zhengzhou University, Henan Children's Hospital, Zhengzhou Children's Hospital, Zhengzhou, ChinaDepartment of Neurology, Children's Hospital Affiliated to Zhengzhou University, Henan Children's Hospital, Zhengzhou Children's Hospital, Zhengzhou, ChinaDepartment of Neurology, Children's Hospital Affiliated to Zhengzhou University, Henan Children's Hospital, Zhengzhou Children's Hospital, Zhengzhou, ChinaDepartment of Neurology, Children's Hospital Affiliated to Zhengzhou University, Henan Children's Hospital, Zhengzhou Children's Hospital, Zhengzhou, ChinaDepartment of Neurology, Children's Hospital Affiliated to Zhengzhou University, Henan Children's Hospital, Zhengzhou Children's Hospital, Zhengzhou, ChinaDepartment of Neurology, Children's Hospital Affiliated to Zhengzhou University, Henan Children's Hospital, Zhengzhou Children's Hospital, Zhengzhou, ChinaDepartment of Neurology, Children's Hospital Affiliated to Zhengzhou University, Henan Children's Hospital, Zhengzhou Children's Hospital, Zhengzhou, China; Corresponding author.Department of Neurology, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, China; Corresponding author.We report a case of a Chinese girl who presented with multiple seizure types of epilepsy, followed by motor and intellectual regression, vision impairment, and cerebral and cerebellar atrophy. She carries an unreported compound heterozygous variant of the ASAH1 gene and is diagnosed with spinal muscular atrophy associated with progressive myoclonic epilepsy (SMA-PME), a disorder in which ceramide accumulation in lysosomes due to a decrease in acid ceramidase activity. This case suggests attention to this rare class of deceases involving both the central and peripheral nervous systems.http://www.sciencedirect.com/science/article/pii/S2405844024170636SMA-PMEASAH1Acid ceramidaseEpilepsyElectroencephalographyCase report |
| spellingShingle | Xiaojing Yin Jinghe Shi Daoqi Mei Jianmei Guo Tingting Ma Yuna Gao Li Wang Jie Deng Spinal muscular atrophy with progressive myoclonic epilepsy: A case report from China with new ASAH1 variants Heliyon SMA-PME ASAH1 Acid ceramidase Epilepsy Electroencephalography Case report |
| title | Spinal muscular atrophy with progressive myoclonic epilepsy: A case report from China with new ASAH1 variants |
| title_full | Spinal muscular atrophy with progressive myoclonic epilepsy: A case report from China with new ASAH1 variants |
| title_fullStr | Spinal muscular atrophy with progressive myoclonic epilepsy: A case report from China with new ASAH1 variants |
| title_full_unstemmed | Spinal muscular atrophy with progressive myoclonic epilepsy: A case report from China with new ASAH1 variants |
| title_short | Spinal muscular atrophy with progressive myoclonic epilepsy: A case report from China with new ASAH1 variants |
| title_sort | spinal muscular atrophy with progressive myoclonic epilepsy a case report from china with new asah1 variants |
| topic | SMA-PME ASAH1 Acid ceramidase Epilepsy Electroencephalography Case report |
| url | http://www.sciencedirect.com/science/article/pii/S2405844024170636 |
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