Spinocerebellar ataxia 15: A phenotypic review and expansion
Spinocerebellar ataxia 15 (SCA15) is a clinically heterogeneous movement disorder characterized by the adult onset of slowly progressive cerebellar ataxia. ITPR1 is the SCA15 causative gene. However, despite numerous reports of genetically-confirmed SCA15, phenotypic uncertainty persists. We reviewe...
Gespeichert in:
| Veröffentlicht in: | Neurologia i neurochirurgia polska 2017-01, Vol.51 (1), p.86-91 |
|---|---|
| Hauptverfasser: | , , , , |
| Format: | Artikel |
| Sprache: | eng |
| Schlagworte: | |
| Online-Zugang: | Volltext |
| Tags: |
Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!
|
| container_end_page | 91 |
|---|---|
| container_issue | 1 |
| container_start_page | 86 |
| container_title | Neurologia i neurochirurgia polska |
| container_volume | 51 |
| creator | Tipton, Philip W. Guthrie, Kimberly Strongosky, Audrey Reimer, Ronald Wszolek, Zbigniew K. |
| description | Spinocerebellar ataxia 15 (SCA15) is a clinically heterogeneous movement disorder characterized by the adult onset of slowly progressive cerebellar ataxia. ITPR1 is the SCA15 causative gene. However, despite numerous reports of genetically-confirmed SCA15, phenotypic uncertainty persists. We reviewed the phenotypes of 60 patients for whom SCA15 was confirmed by the presence of a genetic deletion involving ITPR1. The most prevalent symptoms were gait ataxia (88.3%), dysarthria (75.0%), nystagmus (73.3%), and limb ataxia (71.7%). We also present a novel SCA15 phenotype in a woman with an ITPR1 variant found to have hydrocephalus that improved with ventriculoperitoneal shunting. This is the first reported case of hydrocephalus associated with SCA15. In this review, we analyzed previously reported SCA15 phenotypes and present a novel SCA15 phenotype. We also address important considerations for evaluating patients with complex hereditary movement disorders. |
| doi_str_mv | 10.1016/j.pjnns.2016.10.006 |
| format | Article |
| fullrecord | <record><control><sourceid>proquest_pubme</sourceid><recordid>TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_5378493</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><els_id>S0028384316302031</els_id><sourcerecordid>2464224743</sourcerecordid><originalsourceid>FETCH-LOGICAL-c553t-ddb37c44a1babee937102aa884dc52c7213b2f9aad5cd9d0e1b840cc16f90dc3</originalsourceid><addsrcrecordid>eNp9kU1v1DAQhi1URLeFX4BUReqFS5bxV-KgFqmqyodUiQO9W449Sx3t2sHOLu2_x2FLVXrgZHn8zDt-5yXkLYUlBdq8H5bjEEJesnIplSVA84IsqOraWrAGDsgCgKmaK8EPyVHOA4CQEuAVOWRtB6qhzYKcfR99iBYT9rhem1SZydx5U1H5obqoxlsMcbofva0S7jz-qkxwFd6NJmQfw2vycmXWGd88nMfk5tPVzeWX-vrb56-XF9e1lZJPtXM9b60QhvamR-x4S4EZo5RwVjLbMsp7tuqMcdK6zgHSXgmwljarDpzlx-TjXnbc9ht0FsOUzFqPyW9MutfReP3vS_C3-kfcaclbJTpeBN49CKT4c4t50huf7ew3YNxmTZWQirVMqYKePkOHuE2huNNMNIIx0YpZkO8pm2LOCVePn6Gg53D0oP-Eo-dw5mIJp3SdPPXx2PM3jQKc7wEsyyzrTjpbj8Gi8wntpF30_x3wGwzBoio</addsrcrecordid><sourcetype>Open Access Repository</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype><pqid>2464224743</pqid></control><display><type>article</type><title>Spinocerebellar ataxia 15: A phenotypic review and expansion</title><source>MEDLINE</source><source>Elektronische Zeitschriftenbibliothek - Frei zugängliche E-Journals</source><creator>Tipton, Philip W. ; Guthrie, Kimberly ; Strongosky, Audrey ; Reimer, Ronald ; Wszolek, Zbigniew K.</creator><creatorcontrib>Tipton, Philip W. ; Guthrie, Kimberly ; Strongosky, Audrey ; Reimer, Ronald ; Wszolek, Zbigniew K.</creatorcontrib><description>Spinocerebellar ataxia 15 (SCA15) is a clinically heterogeneous movement disorder characterized by the adult onset of slowly progressive cerebellar ataxia. ITPR1 is the SCA15 causative gene. However, despite numerous reports of genetically-confirmed SCA15, phenotypic uncertainty persists. We reviewed the phenotypes of 60 patients for whom SCA15 was confirmed by the presence of a genetic deletion involving ITPR1. The most prevalent symptoms were gait ataxia (88.3%), dysarthria (75.0%), nystagmus (73.3%), and limb ataxia (71.7%). We also present a novel SCA15 phenotype in a woman with an ITPR1 variant found to have hydrocephalus that improved with ventriculoperitoneal shunting. This is the first reported case of hydrocephalus associated with SCA15. In this review, we analyzed previously reported SCA15 phenotypes and present a novel SCA15 phenotype. We also address important considerations for evaluating patients with complex hereditary movement disorders.</description><identifier>ISSN: 0028-3843</identifier><identifier>EISSN: 1897-4260</identifier><identifier>DOI: 10.1016/j.pjnns.2016.10.006</identifier><identifier>PMID: 27908616</identifier><language>eng</language><publisher>Poland: Elsevier Urban & Partner Sp. z o.o</publisher><subject>Ataxia ; Autosomal dominant spinocerebellar ataxia ; Complex hereditary movement disorder ; Female ; Humans ; Hydrocephalus ; Hydrocephalus - etiology ; Middle Aged ; Phenotype ; Spinocerebellar ataxia type 15 ; Spinocerebellar Ataxias - complications ; Spinocerebellar Ataxias - genetics ; Spinocerebellar Ataxias - physiopathology ; Whole exome sequencing</subject><ispartof>Neurologia i neurochirurgia polska, 2017-01, Vol.51 (1), p.86-91</ispartof><rights>2016</rights><rights>Copyright © 2016. Published by Elsevier Urban & Partner Sp. z o.o.</rights><rights>2017. This work is published under https://creativecommons.org/licenses/by-nc-nd/4.0/ (the “License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License.</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c553t-ddb37c44a1babee937102aa884dc52c7213b2f9aad5cd9d0e1b840cc16f90dc3</citedby><cites>FETCH-LOGICAL-c553t-ddb37c44a1babee937102aa884dc52c7213b2f9aad5cd9d0e1b840cc16f90dc3</cites><orcidid>0000-0003-4084-2248</orcidid></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>230,315,781,785,886,27929,27930</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/27908616$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Tipton, Philip W.</creatorcontrib><creatorcontrib>Guthrie, Kimberly</creatorcontrib><creatorcontrib>Strongosky, Audrey</creatorcontrib><creatorcontrib>Reimer, Ronald</creatorcontrib><creatorcontrib>Wszolek, Zbigniew K.</creatorcontrib><title>Spinocerebellar ataxia 15: A phenotypic review and expansion</title><title>Neurologia i neurochirurgia polska</title><addtitle>Neurol Neurochir Pol</addtitle><description>Spinocerebellar ataxia 15 (SCA15) is a clinically heterogeneous movement disorder characterized by the adult onset of slowly progressive cerebellar ataxia. ITPR1 is the SCA15 causative gene. However, despite numerous reports of genetically-confirmed SCA15, phenotypic uncertainty persists. We reviewed the phenotypes of 60 patients for whom SCA15 was confirmed by the presence of a genetic deletion involving ITPR1. The most prevalent symptoms were gait ataxia (88.3%), dysarthria (75.0%), nystagmus (73.3%), and limb ataxia (71.7%). We also present a novel SCA15 phenotype in a woman with an ITPR1 variant found to have hydrocephalus that improved with ventriculoperitoneal shunting. This is the first reported case of hydrocephalus associated with SCA15. In this review, we analyzed previously reported SCA15 phenotypes and present a novel SCA15 phenotype. We also address important considerations for evaluating patients with complex hereditary movement disorders.</description><subject>Ataxia</subject><subject>Autosomal dominant spinocerebellar ataxia</subject><subject>Complex hereditary movement disorder</subject><subject>Female</subject><subject>Humans</subject><subject>Hydrocephalus</subject><subject>Hydrocephalus - etiology</subject><subject>Middle Aged</subject><subject>Phenotype</subject><subject>Spinocerebellar ataxia type 15</subject><subject>Spinocerebellar Ataxias - complications</subject><subject>Spinocerebellar Ataxias - genetics</subject><subject>Spinocerebellar Ataxias - physiopathology</subject><subject>Whole exome sequencing</subject><issn>0028-3843</issn><issn>1897-4260</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2017</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><sourceid>ABUWG</sourceid><sourceid>AFKRA</sourceid><sourceid>AZQEC</sourceid><sourceid>BENPR</sourceid><sourceid>CCPQU</sourceid><sourceid>DWQXO</sourceid><sourceid>GNUQQ</sourceid><recordid>eNp9kU1v1DAQhi1URLeFX4BUReqFS5bxV-KgFqmqyodUiQO9W449Sx3t2sHOLu2_x2FLVXrgZHn8zDt-5yXkLYUlBdq8H5bjEEJesnIplSVA84IsqOraWrAGDsgCgKmaK8EPyVHOA4CQEuAVOWRtB6qhzYKcfR99iBYT9rhem1SZydx5U1H5obqoxlsMcbofva0S7jz-qkxwFd6NJmQfw2vycmXWGd88nMfk5tPVzeWX-vrb56-XF9e1lZJPtXM9b60QhvamR-x4S4EZo5RwVjLbMsp7tuqMcdK6zgHSXgmwljarDpzlx-TjXnbc9ht0FsOUzFqPyW9MutfReP3vS_C3-kfcaclbJTpeBN49CKT4c4t50huf7ew3YNxmTZWQirVMqYKePkOHuE2huNNMNIIx0YpZkO8pm2LOCVePn6Gg53D0oP-Eo-dw5mIJp3SdPPXx2PM3jQKc7wEsyyzrTjpbj8Gi8wntpF30_x3wGwzBoio</recordid><startdate>20170101</startdate><enddate>20170101</enddate><creator>Tipton, Philip W.</creator><creator>Guthrie, Kimberly</creator><creator>Strongosky, Audrey</creator><creator>Reimer, Ronald</creator><creator>Wszolek, Zbigniew K.</creator><general>Elsevier Urban & Partner Sp. z o.o</general><general>Wydawnictwo Via Medica</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>3V.</scope><scope>7RV</scope><scope>7X7</scope><scope>7XB</scope><scope>88G</scope><scope>8FI</scope><scope>8FJ</scope><scope>8FK</scope><scope>ABUWG</scope><scope>AFKRA</scope><scope>AZQEC</scope><scope>BENPR</scope><scope>CCPQU</scope><scope>DWQXO</scope><scope>FYUFA</scope><scope>GHDGH</scope><scope>GNUQQ</scope><scope>K9.</scope><scope>KB0</scope><scope>M0S</scope><scope>M2M</scope><scope>NAPCQ</scope><scope>PIMPY</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>PRINS</scope><scope>PSYQQ</scope><scope>Q9U</scope><scope>7X8</scope><scope>5PM</scope><orcidid>https://orcid.org/0000-0003-4084-2248</orcidid></search><sort><creationdate>20170101</creationdate><title>Spinocerebellar ataxia 15: A phenotypic review and expansion</title><author>Tipton, Philip W. ; Guthrie, Kimberly ; Strongosky, Audrey ; Reimer, Ronald ; Wszolek, Zbigniew K.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c553t-ddb37c44a1babee937102aa884dc52c7213b2f9aad5cd9d0e1b840cc16f90dc3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2017</creationdate><topic>Ataxia</topic><topic>Autosomal dominant spinocerebellar ataxia</topic><topic>Complex hereditary movement disorder</topic><topic>Female</topic><topic>Humans</topic><topic>Hydrocephalus</topic><topic>Hydrocephalus - etiology</topic><topic>Middle Aged</topic><topic>Phenotype</topic><topic>Spinocerebellar ataxia type 15</topic><topic>Spinocerebellar Ataxias - complications</topic><topic>Spinocerebellar Ataxias - genetics</topic><topic>Spinocerebellar Ataxias - physiopathology</topic><topic>Whole exome sequencing</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Tipton, Philip W.</creatorcontrib><creatorcontrib>Guthrie, Kimberly</creatorcontrib><creatorcontrib>Strongosky, Audrey</creatorcontrib><creatorcontrib>Reimer, Ronald</creatorcontrib><creatorcontrib>Wszolek, Zbigniew K.</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>ProQuest Central (Corporate)</collection><collection>Nursing & Allied Health Database</collection><collection>Health & Medical Collection</collection><collection>ProQuest Central (purchase pre-March 2016)</collection><collection>Psychology Database (Alumni)</collection><collection>Hospital Premium Collection</collection><collection>Hospital Premium Collection (Alumni Edition)</collection><collection>ProQuest Central (Alumni) (purchase pre-March 2016)</collection><collection>ProQuest Central (Alumni Edition)</collection><collection>ProQuest Central UK/Ireland</collection><collection>ProQuest Central Essentials</collection><collection>Proquest Central</collection><collection>ProQuest One Community College</collection><collection>ProQuest Central Korea</collection><collection>Health Research Premium Collection</collection><collection>Health Research Premium Collection (Alumni)</collection><collection>ProQuest Central Student</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>Nursing & Allied Health Database (Alumni Edition)</collection><collection>Health & Medical Collection (Alumni Edition)</collection><collection>Psychology Database</collection><collection>Nursing & Allied Health Premium</collection><collection>Access via ProQuest (Open Access)</collection><collection>ProQuest One Academic Eastern Edition (DO NOT USE)</collection><collection>ProQuest One Academic</collection><collection>ProQuest One Academic UKI Edition</collection><collection>ProQuest Central China</collection><collection>ProQuest One Psychology</collection><collection>ProQuest Central Basic</collection><collection>MEDLINE - Academic</collection><collection>PubMed Central (Full Participant titles)</collection><jtitle>Neurologia i neurochirurgia polska</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Tipton, Philip W.</au><au>Guthrie, Kimberly</au><au>Strongosky, Audrey</au><au>Reimer, Ronald</au><au>Wszolek, Zbigniew K.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Spinocerebellar ataxia 15: A phenotypic review and expansion</atitle><jtitle>Neurologia i neurochirurgia polska</jtitle><addtitle>Neurol Neurochir Pol</addtitle><date>2017-01-01</date><risdate>2017</risdate><volume>51</volume><issue>1</issue><spage>86</spage><epage>91</epage><pages>86-91</pages><issn>0028-3843</issn><eissn>1897-4260</eissn><abstract>Spinocerebellar ataxia 15 (SCA15) is a clinically heterogeneous movement disorder characterized by the adult onset of slowly progressive cerebellar ataxia. ITPR1 is the SCA15 causative gene. However, despite numerous reports of genetically-confirmed SCA15, phenotypic uncertainty persists. We reviewed the phenotypes of 60 patients for whom SCA15 was confirmed by the presence of a genetic deletion involving ITPR1. The most prevalent symptoms were gait ataxia (88.3%), dysarthria (75.0%), nystagmus (73.3%), and limb ataxia (71.7%). We also present a novel SCA15 phenotype in a woman with an ITPR1 variant found to have hydrocephalus that improved with ventriculoperitoneal shunting. This is the first reported case of hydrocephalus associated with SCA15. In this review, we analyzed previously reported SCA15 phenotypes and present a novel SCA15 phenotype. We also address important considerations for evaluating patients with complex hereditary movement disorders.</abstract><cop>Poland</cop><pub>Elsevier Urban & Partner Sp. z o.o</pub><pmid>27908616</pmid><doi>10.1016/j.pjnns.2016.10.006</doi><tpages>6</tpages><orcidid>https://orcid.org/0000-0003-4084-2248</orcidid><oa>free_for_read</oa></addata></record> |
| fulltext | fulltext |
| identifier | ISSN: 0028-3843 |
| ispartof | Neurologia i neurochirurgia polska, 2017-01, Vol.51 (1), p.86-91 |
| issn | 0028-3843 1897-4260 |
| language | eng |
| recordid | cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_5378493 |
| source | MEDLINE; Elektronische Zeitschriftenbibliothek - Frei zugängliche E-Journals |
| subjects | Ataxia Autosomal dominant spinocerebellar ataxia Complex hereditary movement disorder Female Humans Hydrocephalus Hydrocephalus - etiology Middle Aged Phenotype Spinocerebellar ataxia type 15 Spinocerebellar Ataxias - complications Spinocerebellar Ataxias - genetics Spinocerebellar Ataxias - physiopathology Whole exome sequencing |
| title | Spinocerebellar ataxia 15: A phenotypic review and expansion |
| url | https://sfx.bib-bvb.de/sfx_tum?ctx_ver=Z39.88-2004&ctx_enc=info:ofi/enc:UTF-8&ctx_tim=2024-12-12T10%3A50%3A50IST&url_ver=Z39.88-2004&url_ctx_fmt=infofi/fmt:kev:mtx:ctx&rfr_id=info:sid/primo.exlibrisgroup.com:primo3-Article-proquest_pubme&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.genre=article&rft.atitle=Spinocerebellar%20ataxia%2015:%20A%20phenotypic%20review%20and%20expansion&rft.jtitle=Neurologia%20i%20neurochirurgia%20polska&rft.au=Tipton,%20Philip%20W.&rft.date=2017-01-01&rft.volume=51&rft.issue=1&rft.spage=86&rft.epage=91&rft.pages=86-91&rft.issn=0028-3843&rft.eissn=1897-4260&rft_id=info:doi/10.1016/j.pjnns.2016.10.006&rft_dat=%3Cproquest_pubme%3E2464224743%3C/proquest_pubme%3E%3Curl%3E%3C/url%3E&disable_directlink=true&sfx.directlink=off&sfx.report_link=0&rft_id=info:oai/&rft_pqid=2464224743&rft_id=info:pmid/27908616&rft_els_id=S0028384316302031&rfr_iscdi=true |