Episodic ataxia type 2 with a novel missense variant (Leu602Arg) in CACNA1A
Abstract Autosomal dominant episodic ataxia type 2 (EA2) is caused by variants in CACNA1A. We examined a 20-year-old male with EA symptoms from a Japanese family with hereditary EA. Cerebellar atrophy was not evident, but single photon emission computed tomography showed cerebellar hypoperfusion. We...
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| Main Authors: | , , , , , , , , , , |
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| Format: | Article |
| Language: | English |
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Nature Publishing Group
2024-01-01
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| Series: | Human Genome Variation |
| Online Access: | https://doi.org/10.1038/s41439-023-00261-w |
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| _version_ | 1832594923013013504 |
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| author | Shiroh Miura Emina Watanabe Kensuke Senzaki Shigeyoshi Hiruki Sayaka Matsumoto Takuya Morikawa Yusuke Uchiyama Seiji Kurata Masayuki Ochi Yasumasa Ohyagi Hiroki Shibata |
| author_facet | Shiroh Miura Emina Watanabe Kensuke Senzaki Shigeyoshi Hiruki Sayaka Matsumoto Takuya Morikawa Yusuke Uchiyama Seiji Kurata Masayuki Ochi Yasumasa Ohyagi Hiroki Shibata |
| author_sort | Shiroh Miura |
| collection | DOAJ |
| description | Abstract Autosomal dominant episodic ataxia type 2 (EA2) is caused by variants in CACNA1A. We examined a 20-year-old male with EA symptoms from a Japanese family with hereditary EA. Cerebellar atrophy was not evident, but single photon emission computed tomography showed cerebellar hypoperfusion. We identified a novel nonsynonymous variant in CACNA1A, NM_001127222.2:c.1805T>G (p.Leu602Arg), which is predicted to be functionally deleterious; therefore, this variant is likely responsible for EA2 in this pedigree. |
| format | Article |
| id | doaj-art-a1d8e99ecb164101ac3002e4d1d6beab |
| institution | Kabale University |
| issn | 2054-345X |
| language | English |
| publishDate | 2024-01-01 |
| publisher | Nature Publishing Group |
| record_format | Article |
| series | Human Genome Variation |
| spelling | doaj-art-a1d8e99ecb164101ac3002e4d1d6beab2025-01-19T12:15:32ZengNature Publishing GroupHuman Genome Variation2054-345X2024-01-011111310.1038/s41439-023-00261-wEpisodic ataxia type 2 with a novel missense variant (Leu602Arg) in CACNA1AShiroh Miura0Emina Watanabe1Kensuke Senzaki2Shigeyoshi Hiruki3Sayaka Matsumoto4Takuya Morikawa5Yusuke Uchiyama6Seiji Kurata7Masayuki Ochi8Yasumasa Ohyagi9Hiroki Shibata10Department of Neurology and Geriatric Medicine, Ehime University Graduate School of Medicine, ShitsukawaDivision of Genomics, Medical Institute of Bioregulation, Kyushu University, 3-1-1, Maidashi, Higashi-kuDepartment of Neurology and Geriatric Medicine, Ehime University Graduate School of Medicine, ShitsukawaDivision of Genomics, Medical Institute of Bioregulation, Kyushu University, 3-1-1, Maidashi, Higashi-kuDepartment of Neurology and Geriatric Medicine, Ehime University Graduate School of Medicine, ShitsukawaDivision of Genomics, Medical Institute of Bioregulation, Kyushu University, 3-1-1, Maidashi, Higashi-kuDepartment of Radiology, Kurume University School of Medicine, 67 Asahi-machi, KurumeDepartment of Radiology, Kurume University School of Medicine, 67 Asahi-machi, KurumeDepartment of Neurology and Geriatric Medicine, Ehime University Graduate School of Medicine, ShitsukawaDepartment of Neurology and Geriatric Medicine, Ehime University Graduate School of Medicine, ShitsukawaDivision of Genomics, Medical Institute of Bioregulation, Kyushu University, 3-1-1, Maidashi, Higashi-kuAbstract Autosomal dominant episodic ataxia type 2 (EA2) is caused by variants in CACNA1A. We examined a 20-year-old male with EA symptoms from a Japanese family with hereditary EA. Cerebellar atrophy was not evident, but single photon emission computed tomography showed cerebellar hypoperfusion. We identified a novel nonsynonymous variant in CACNA1A, NM_001127222.2:c.1805T>G (p.Leu602Arg), which is predicted to be functionally deleterious; therefore, this variant is likely responsible for EA2 in this pedigree.https://doi.org/10.1038/s41439-023-00261-w |
| spellingShingle | Shiroh Miura Emina Watanabe Kensuke Senzaki Shigeyoshi Hiruki Sayaka Matsumoto Takuya Morikawa Yusuke Uchiyama Seiji Kurata Masayuki Ochi Yasumasa Ohyagi Hiroki Shibata Episodic ataxia type 2 with a novel missense variant (Leu602Arg) in CACNA1A Human Genome Variation |
| title | Episodic ataxia type 2 with a novel missense variant (Leu602Arg) in CACNA1A |
| title_full | Episodic ataxia type 2 with a novel missense variant (Leu602Arg) in CACNA1A |
| title_fullStr | Episodic ataxia type 2 with a novel missense variant (Leu602Arg) in CACNA1A |
| title_full_unstemmed | Episodic ataxia type 2 with a novel missense variant (Leu602Arg) in CACNA1A |
| title_short | Episodic ataxia type 2 with a novel missense variant (Leu602Arg) in CACNA1A |
| title_sort | episodic ataxia type 2 with a novel missense variant leu602arg in cacna1a |
| url | https://doi.org/10.1038/s41439-023-00261-w |
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