Infantile-onset spinocerebellar ataxia type 5 associated with a novel SPTBN2 mutation: A case report
Spinocerebellar ataxia type 5 (SCA5), a dominant spinocerebellar ataxia is caused by spectrin beta nonerythrocytic 2 gene (SPTBN2) mutation. It typically consists of a slow progressive cerebellar ataxia with an onset principally in adulthood. Here, we report on the first Japanese patient with infant...
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| Veröffentlicht in: | Brain & development (Tokyo. 1979) 2019-08, Vol.41 (7), p.630-633 |
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| container_title | Brain & development (Tokyo. 1979) |
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| creator | Mizuno, Tomoko Kashimada, Ayako Nomura, Toshihiro Moriyama, Kengo Yokoyama, Haruna Hasegawa, Setsuko Takagi, Masatoshi Mizutani, Shuki |
| description | Spinocerebellar ataxia type 5 (SCA5), a dominant spinocerebellar ataxia is caused by spectrin beta nonerythrocytic 2 gene (SPTBN2) mutation. It typically consists of a slow progressive cerebellar ataxia with an onset principally in adulthood. Here, we report on the first Japanese patient with infantile-onset SCA5 associated with a novel heterozygous SPTBN2 mutation.
The patient, a 6-year-old girl, developed delayed motor development and unsteady arm movement during infancy. She also showed gaze-evoked nystagmus, saccadic eye pursuit, dysarthria, dysmetria, intention tremor and mild intellectual disability. Brain MRI revealed moderate cerebellar atrophy and mild pontine atrophy. Comprehensive target capture sequencing to identify the causative gene identified a novel missense mutation in SPTBN2 (c.1309C |
| doi_str_mv | 10.1016/j.braindev.2019.03.002 |
| format | Article |
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The patient, a 6-year-old girl, developed delayed motor development and unsteady arm movement during infancy. She also showed gaze-evoked nystagmus, saccadic eye pursuit, dysarthria, dysmetria, intention tremor and mild intellectual disability. Brain MRI revealed moderate cerebellar atrophy and mild pontine atrophy. Comprehensive target capture sequencing to identify the causative gene identified a novel missense mutation in SPTBN2 (c.1309C<G, p.R437G), which was thought to be pathogenic.
Two patients with infantile-onset SCA5 associated with another novel heterozygous SPTBN2 mutation have recently been reported; these SPTBN2 mutations, which may have a significant impact on protein function, were located in the second spectrin. Our findings indicate that SPTBN2 mutations may be associated with infantile-onset cerebellar ataxia accompanied with global developmental delay.</description><identifier>ISSN: 0387-7604</identifier><identifier>EISSN: 1872-7131</identifier><identifier>DOI: 10.1016/j.braindev.2019.03.002</identifier><identifier>PMID: 30898343</identifier><language>eng</language><publisher>Netherlands: Elsevier B.V</publisher><subject>Child ; Female ; Humans ; Infantile-onset ; Japan ; Magnetic Resonance Imaging ; Mutation ; Mutation, Missense ; Spectrin - genetics ; Spectrin - metabolism ; Spinocerebellar ataxia ; Spinocerebellar Ataxias - genetics ; Spinocerebellar Ataxias - physiopathology ; Spinocerebellar Degenerations - genetics ; SPTBN2 ; β-III spectrin</subject><ispartof>Brain & development (Tokyo. 1979), 2019-08, Vol.41 (7), p.630-633</ispartof><rights>2019 The Japanese Society of Child Neurology</rights><rights>Copyright © 2019 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c392t-943a83cca4d646c40878b22c4b964e312e5044350a04be22329db7da8f75d403</citedby><cites>FETCH-LOGICAL-c392t-943a83cca4d646c40878b22c4b964e312e5044350a04be22329db7da8f75d403</cites><orcidid>0000-0002-7580-9184</orcidid></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktohtml>$$Uhttps://dx.doi.org/10.1016/j.braindev.2019.03.002$$EHTML$$P50$$Gelsevier$$H</linktohtml><link.rule.ids>314,780,784,3550,27924,27925,45995</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/30898343$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Mizuno, Tomoko</creatorcontrib><creatorcontrib>Kashimada, Ayako</creatorcontrib><creatorcontrib>Nomura, Toshihiro</creatorcontrib><creatorcontrib>Moriyama, Kengo</creatorcontrib><creatorcontrib>Yokoyama, Haruna</creatorcontrib><creatorcontrib>Hasegawa, Setsuko</creatorcontrib><creatorcontrib>Takagi, Masatoshi</creatorcontrib><creatorcontrib>Mizutani, Shuki</creatorcontrib><title>Infantile-onset spinocerebellar ataxia type 5 associated with a novel SPTBN2 mutation: A case report</title><title>Brain & development (Tokyo. 1979)</title><addtitle>Brain Dev</addtitle><description>Spinocerebellar ataxia type 5 (SCA5), a dominant spinocerebellar ataxia is caused by spectrin beta nonerythrocytic 2 gene (SPTBN2) mutation. It typically consists of a slow progressive cerebellar ataxia with an onset principally in adulthood. Here, we report on the first Japanese patient with infantile-onset SCA5 associated with a novel heterozygous SPTBN2 mutation.
The patient, a 6-year-old girl, developed delayed motor development and unsteady arm movement during infancy. She also showed gaze-evoked nystagmus, saccadic eye pursuit, dysarthria, dysmetria, intention tremor and mild intellectual disability. Brain MRI revealed moderate cerebellar atrophy and mild pontine atrophy. Comprehensive target capture sequencing to identify the causative gene identified a novel missense mutation in SPTBN2 (c.1309C<G, p.R437G), which was thought to be pathogenic.
Two patients with infantile-onset SCA5 associated with another novel heterozygous SPTBN2 mutation have recently been reported; these SPTBN2 mutations, which may have a significant impact on protein function, were located in the second spectrin. Our findings indicate that SPTBN2 mutations may be associated with infantile-onset cerebellar ataxia accompanied with global developmental delay.</description><subject>Child</subject><subject>Female</subject><subject>Humans</subject><subject>Infantile-onset</subject><subject>Japan</subject><subject>Magnetic Resonance Imaging</subject><subject>Mutation</subject><subject>Mutation, Missense</subject><subject>Spectrin - genetics</subject><subject>Spectrin - metabolism</subject><subject>Spinocerebellar ataxia</subject><subject>Spinocerebellar Ataxias - genetics</subject><subject>Spinocerebellar Ataxias - physiopathology</subject><subject>Spinocerebellar Degenerations - genetics</subject><subject>SPTBN2</subject><subject>β-III spectrin</subject><issn>0387-7604</issn><issn>1872-7131</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2019</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqFkMtuFDEQRS1ERIbAL0Resumm_OgXK0LEI1JEIjF7q9quER712I3tmZC_T48mYcuqNufW1T2MXQqoBYj247YeE_rg6FBLEEMNqgaQr9hK9J2sOqHEa7YC1XdV14I-Z29z3gKAkALesHMF_dArrVbM3YQNhuInqmLIVHiefYiWEo00TZg4FvzrkZfHmXjDMedoPRZy_MGX3xx5iAea-K_79Zefku_2BYuP4RO_4hYz8URzTOUdO9vglOn9871g629f19c_qtu77zfXV7eVVYMs1aAV9spa1K7VrdXQd_0opdXj0GpSQlIDWqsGEPRIUio5uLFz2G-6xmlQF-zD6e2c4p895WJ2PtvjjEBxn40UQ9tIaES7oO0JtSnmnGhj5uR3mB6NAHMUbLbmRbA5CjagzCJ4CV4-d-zHHbl_sRejC_D5BNAy9OApmWw9BUvOJ7LFuOj_1_EEWFSPGg</recordid><startdate>201908</startdate><enddate>201908</enddate><creator>Mizuno, Tomoko</creator><creator>Kashimada, Ayako</creator><creator>Nomura, Toshihiro</creator><creator>Moriyama, Kengo</creator><creator>Yokoyama, Haruna</creator><creator>Hasegawa, Setsuko</creator><creator>Takagi, Masatoshi</creator><creator>Mizutani, Shuki</creator><general>Elsevier B.V</general><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7X8</scope><orcidid>https://orcid.org/0000-0002-7580-9184</orcidid></search><sort><creationdate>201908</creationdate><title>Infantile-onset spinocerebellar ataxia type 5 associated with a novel SPTBN2 mutation: A case report</title><author>Mizuno, Tomoko ; Kashimada, Ayako ; Nomura, Toshihiro ; Moriyama, Kengo ; Yokoyama, Haruna ; Hasegawa, Setsuko ; Takagi, Masatoshi ; Mizutani, Shuki</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c392t-943a83cca4d646c40878b22c4b964e312e5044350a04be22329db7da8f75d403</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2019</creationdate><topic>Child</topic><topic>Female</topic><topic>Humans</topic><topic>Infantile-onset</topic><topic>Japan</topic><topic>Magnetic Resonance Imaging</topic><topic>Mutation</topic><topic>Mutation, Missense</topic><topic>Spectrin - genetics</topic><topic>Spectrin - metabolism</topic><topic>Spinocerebellar ataxia</topic><topic>Spinocerebellar Ataxias - genetics</topic><topic>Spinocerebellar Ataxias - physiopathology</topic><topic>Spinocerebellar Degenerations - genetics</topic><topic>SPTBN2</topic><topic>β-III spectrin</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Mizuno, Tomoko</creatorcontrib><creatorcontrib>Kashimada, Ayako</creatorcontrib><creatorcontrib>Nomura, Toshihiro</creatorcontrib><creatorcontrib>Moriyama, Kengo</creatorcontrib><creatorcontrib>Yokoyama, Haruna</creatorcontrib><creatorcontrib>Hasegawa, Setsuko</creatorcontrib><creatorcontrib>Takagi, Masatoshi</creatorcontrib><creatorcontrib>Mizutani, Shuki</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>MEDLINE - Academic</collection><jtitle>Brain & development (Tokyo. 1979)</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Mizuno, Tomoko</au><au>Kashimada, Ayako</au><au>Nomura, Toshihiro</au><au>Moriyama, Kengo</au><au>Yokoyama, Haruna</au><au>Hasegawa, Setsuko</au><au>Takagi, Masatoshi</au><au>Mizutani, Shuki</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Infantile-onset spinocerebellar ataxia type 5 associated with a novel SPTBN2 mutation: A case report</atitle><jtitle>Brain & development (Tokyo. 1979)</jtitle><addtitle>Brain Dev</addtitle><date>2019-08</date><risdate>2019</risdate><volume>41</volume><issue>7</issue><spage>630</spage><epage>633</epage><pages>630-633</pages><issn>0387-7604</issn><eissn>1872-7131</eissn><abstract>Spinocerebellar ataxia type 5 (SCA5), a dominant spinocerebellar ataxia is caused by spectrin beta nonerythrocytic 2 gene (SPTBN2) mutation. It typically consists of a slow progressive cerebellar ataxia with an onset principally in adulthood. Here, we report on the first Japanese patient with infantile-onset SCA5 associated with a novel heterozygous SPTBN2 mutation.
The patient, a 6-year-old girl, developed delayed motor development and unsteady arm movement during infancy. She also showed gaze-evoked nystagmus, saccadic eye pursuit, dysarthria, dysmetria, intention tremor and mild intellectual disability. Brain MRI revealed moderate cerebellar atrophy and mild pontine atrophy. Comprehensive target capture sequencing to identify the causative gene identified a novel missense mutation in SPTBN2 (c.1309C<G, p.R437G), which was thought to be pathogenic.
Two patients with infantile-onset SCA5 associated with another novel heterozygous SPTBN2 mutation have recently been reported; these SPTBN2 mutations, which may have a significant impact on protein function, were located in the second spectrin. Our findings indicate that SPTBN2 mutations may be associated with infantile-onset cerebellar ataxia accompanied with global developmental delay.</abstract><cop>Netherlands</cop><pub>Elsevier B.V</pub><pmid>30898343</pmid><doi>10.1016/j.braindev.2019.03.002</doi><tpages>4</tpages><orcidid>https://orcid.org/0000-0002-7580-9184</orcidid></addata></record> |
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| subjects | Child Female Humans Infantile-onset Japan Magnetic Resonance Imaging Mutation Mutation, Missense Spectrin - genetics Spectrin - metabolism Spinocerebellar ataxia Spinocerebellar Ataxias - genetics Spinocerebellar Ataxias - physiopathology Spinocerebellar Degenerations - genetics SPTBN2 β-III spectrin |
| title | Infantile-onset spinocerebellar ataxia type 5 associated with a novel SPTBN2 mutation: A case report |
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