Case Report: Late-Onset Autosomal Recessive Cerebellar Ataxia Associated With SYNE1 Mutation in a Chinese Family
Autosomal recessive cerebellar ataxia type 1 (ARCA-1), also known as autosomal recessive spinocerebellar ataxia type 8 (SCAR8), is caused by spectrin repeat containing nuclear envelope protein 1 (SYNE1) gene mutation. Nesprin-1, encoded by SYNE1, is widely expressed in various tissues, especially in...
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Frontiers Media S.A.
2022-02-01
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| Series: | Frontiers in Genetics |
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| Online Access: | https://www.frontiersin.org/articles/10.3389/fgene.2022.795188/full |
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| author | Nannan Qian Taohua Wei Wenming Yang Wenming Yang Jiuxiang Wang Shijie Zhang Shan Jin Wei Dong Wei Dong Wenjie Hao Yue Yang Ru Huang |
| author_facet | Nannan Qian Taohua Wei Wenming Yang Wenming Yang Jiuxiang Wang Shijie Zhang Shan Jin Wei Dong Wei Dong Wenjie Hao Yue Yang Ru Huang |
| author_sort | Nannan Qian |
| collection | DOAJ |
| description | Autosomal recessive cerebellar ataxia type 1 (ARCA-1), also known as autosomal recessive spinocerebellar ataxia type 8 (SCAR8), is caused by spectrin repeat containing nuclear envelope protein 1 (SYNE1) gene mutation. Nesprin-1, encoded by SYNE1, is widely expressed in various tissues, especially in the striated muscle and cerebellum. The destruction of Nesprin-1 is related to neuronal and neuromuscular lesions. It has been reported that SYNE1 gene variation is associated with Emery-Dreifuss muscular dystrophy type 4, arthrogryposis multiplex congenita, SCAR8, and dilated cardiomyopathy. The clinical manifestations of SCAR8 are mainly characterized by relatively pure cerebellar ataxia and may be accompanied by upper and/or lower motor neuron dysfunction. Some affected people may also display cerebellar cognitive affective syndrome. It is conventionally held that the age at the onset of SCAR8 is between 6 and 42 years (the median age is 17 years). Here, we report a pedigree with SCAR8 where the onset age in the proband is 48 years. This case report extends the genetic profile and clinical features of SCAR8. A new pathogenic site (c.7578del; p.S2526Sfs*8) located in SYNE1, which is the genetic cause of the patient, was identified via whole exome sequencing (WES). |
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| institution | Directory Open Access Journal |
| issn | 1664-8021 |
| language | English |
| last_indexed | 2024-12-24T00:29:00Z |
| publishDate | 2022-02-01 |
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| series | Frontiers in Genetics |
| spelling | doaj.art-0bf9af9410e34e2aa176870152d0fd422022-12-21T17:24:18ZengFrontiers Media S.A.Frontiers in Genetics1664-80212022-02-011310.3389/fgene.2022.795188795188Case Report: Late-Onset Autosomal Recessive Cerebellar Ataxia Associated With SYNE1 Mutation in a Chinese FamilyNannan Qian0Taohua Wei1Wenming Yang2Wenming Yang3Jiuxiang Wang4Shijie Zhang5Shan Jin6Wei Dong7Wei Dong8Wenjie Hao9Yue Yang10Ru Huang11Graduate School, Anhui University of Traditional Chinese Medicine, Hefei, ChinaThe First Affiliated Hospital of Anhui University of Traditional Chinese Medicine, Hefei, ChinaThe First Affiliated Hospital of Anhui University of Traditional Chinese Medicine, Hefei, ChinaKey Laboratory of Xin’an Medicine Ministry of Education, Hefei, ChinaThe First Affiliated Hospital of Anhui University of Traditional Chinese Medicine, Hefei, ChinaThe First Affiliated Hospital of Anhui University of Traditional Chinese Medicine, Hefei, ChinaThe First Affiliated Hospital of Anhui University of Traditional Chinese Medicine, Hefei, ChinaGraduate School, Anhui University of Traditional Chinese Medicine, Hefei, ChinaThe First Affiliated Hospital of Anhui University of Traditional Chinese Medicine, Hefei, ChinaGraduate School, Anhui University of Traditional Chinese Medicine, Hefei, ChinaGraduate School, Anhui University of Traditional Chinese Medicine, Hefei, ChinaV-Medical Laboratory Co., Ltd, Hangzhou, ChinaAutosomal recessive cerebellar ataxia type 1 (ARCA-1), also known as autosomal recessive spinocerebellar ataxia type 8 (SCAR8), is caused by spectrin repeat containing nuclear envelope protein 1 (SYNE1) gene mutation. Nesprin-1, encoded by SYNE1, is widely expressed in various tissues, especially in the striated muscle and cerebellum. The destruction of Nesprin-1 is related to neuronal and neuromuscular lesions. It has been reported that SYNE1 gene variation is associated with Emery-Dreifuss muscular dystrophy type 4, arthrogryposis multiplex congenita, SCAR8, and dilated cardiomyopathy. The clinical manifestations of SCAR8 are mainly characterized by relatively pure cerebellar ataxia and may be accompanied by upper and/or lower motor neuron dysfunction. Some affected people may also display cerebellar cognitive affective syndrome. It is conventionally held that the age at the onset of SCAR8 is between 6 and 42 years (the median age is 17 years). Here, we report a pedigree with SCAR8 where the onset age in the proband is 48 years. This case report extends the genetic profile and clinical features of SCAR8. A new pathogenic site (c.7578del; p.S2526Sfs*8) located in SYNE1, which is the genetic cause of the patient, was identified via whole exome sequencing (WES).https://www.frontiersin.org/articles/10.3389/fgene.2022.795188/fullcase reportautosomal recessive cerebellar ataxiaARCA-1SYNE1 ataxiaSYNE1 geneSCAR8 |
| spellingShingle | Nannan Qian Taohua Wei Wenming Yang Wenming Yang Jiuxiang Wang Shijie Zhang Shan Jin Wei Dong Wei Dong Wenjie Hao Yue Yang Ru Huang Case Report: Late-Onset Autosomal Recessive Cerebellar Ataxia Associated With SYNE1 Mutation in a Chinese Family Frontiers in Genetics case report autosomal recessive cerebellar ataxia ARCA-1 SYNE1 ataxia SYNE1 gene SCAR8 |
| title | Case Report: Late-Onset Autosomal Recessive Cerebellar Ataxia Associated With SYNE1 Mutation in a Chinese Family |
| title_full | Case Report: Late-Onset Autosomal Recessive Cerebellar Ataxia Associated With SYNE1 Mutation in a Chinese Family |
| title_fullStr | Case Report: Late-Onset Autosomal Recessive Cerebellar Ataxia Associated With SYNE1 Mutation in a Chinese Family |
| title_full_unstemmed | Case Report: Late-Onset Autosomal Recessive Cerebellar Ataxia Associated With SYNE1 Mutation in a Chinese Family |
| title_short | Case Report: Late-Onset Autosomal Recessive Cerebellar Ataxia Associated With SYNE1 Mutation in a Chinese Family |
| title_sort | case report late onset autosomal recessive cerebellar ataxia associated with syne1 mutation in a chinese family |
| topic | case report autosomal recessive cerebellar ataxia ARCA-1 SYNE1 ataxia SYNE1 gene SCAR8 |
| url | https://www.frontiersin.org/articles/10.3389/fgene.2022.795188/full |
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