An ITPR1 gene deletion causes spinocerebellar ataxia 15/16: a genetic, clinical and radiological description.
Identifieur interne : 001655 ( PubMed/Corpus ); précédent : 001654; suivant : 001656An ITPR1 gene deletion causes spinocerebellar ataxia 15/16: a genetic, clinical and radiological description.
Auteurs : Marianne J U. Novak ; Mary G. Sweeney ; Abi Li ; Colm Treacy ; Hoskote S. Chandrashekar ; Paola Giunti ; Robert G. Goold ; Mary B. Davis ; Henry Houlden ; Sarah J. TabriziSource :
- Movement disorders : official journal of the Movement Disorder Society [ 1531-8257 ] ; 2010.
English descriptors
- KwdEn :
- Adult, Family Health, Female, Gene Deletion, Genetic Testing, Humans, Inositol 1,4,5-Trisphosphate Receptors (genetics), Magnetic Resonance Imaging (methods), Male, Middle Aged, Polymorphism, Single Nucleotide (genetics), Spinocerebellar Ataxias (classification), Spinocerebellar Ataxias (genetics), Spinocerebellar Ataxias (pathology).
- MESH :
- chemical , genetics : Inositol 1,4,5-Trisphosphate Receptors.
- classification : Spinocerebellar Ataxias.
- genetics : Polymorphism, Single Nucleotide, Spinocerebellar Ataxias.
- methods : Magnetic Resonance Imaging.
- pathology : Spinocerebellar Ataxias.
- Adult, Family Health, Female, Gene Deletion, Genetic Testing, Humans, Male, Middle Aged.
Abstract
The purpose of this study was to characterise a novel family with very slowly progressive pure spinocerebellar ataxia (SCA) caused by a deletion in the inositol 1,4,5-triphosphate receptor 1 (ITPR1) gene on chromosome 3. This is a detailed clinical, genetic, and radiological description of the genotype. Deletions in ITPR1 have been shown to cause SCA15/SCA16 in six families to date. A further Japanese family has been identified with an ITPR1 point mutation. The exact prevalence is as yet unknown, but is probably higher than previously thought. The clinical phenotype of the family is described, and videotaped clinical examinations are presented. Serial brain magnetic resonance imaging studies were carried out on one affected individual, and genetic analysis was performed on several family members. Protein analysis confirmed the ITPR1 deletion. Affected subjects display a remarkably slow, almost pure cerebellar syndrome. Serial magnetic resonance imaging shows moderate cerebellar atrophy with mild inferior parietal and temporal cortical volume loss. Genetic analysis shows a deletion of 346,487 bp in ITPR1 (the second largest ITPR1 deletion reported to date), suggesting SCA15 is due to a loss of ITPR1 function. Western blotting of lymphoblastoid cell line protein confirms reduced ITPR1 protein levels. SCA15 is a slowly or nonprogressive pure cerebellar ataxia, which appears to be caused by a loss of ITPR1 function and a reduction in the translated protein. Patients with nonprogressive or slowly progressive ataxia should be screened for ITPR1 defects.
DOI: 10.1002/mds.23223
PubMed: 20669319
Links to Exploration step
pubmed:20669319Le document en format XML
<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">An ITPR1 gene deletion causes spinocerebellar ataxia 15/16: a genetic, clinical and radiological description.</title><author><name sortKey="Novak, Marianne J U" sort="Novak, Marianne J U" uniqKey="Novak M" first="Marianne J U" last="Novak">Marianne J U. Novak</name><affiliation><nlm:affiliation>Department of Neurogenetics, The National Hospital for Neurology and Neurosurgery, London, UK.</nlm:affiliation></affiliation></author><author><name sortKey="Sweeney, Mary G" sort="Sweeney, Mary G" uniqKey="Sweeney M" first="Mary G" last="Sweeney">Mary G. Sweeney</name></author><author><name sortKey="Li, Abi" sort="Li, Abi" uniqKey="Li A" first="Abi" last="Li">Abi Li</name></author><author><name sortKey="Treacy, Colm" sort="Treacy, Colm" uniqKey="Treacy C" first="Colm" last="Treacy">Colm Treacy</name></author><author><name sortKey="Chandrashekar, Hoskote S" sort="Chandrashekar, Hoskote S" uniqKey="Chandrashekar H" first="Hoskote S" last="Chandrashekar">Hoskote S. Chandrashekar</name></author><author><name sortKey="Giunti, Paola" sort="Giunti, Paola" uniqKey="Giunti P" first="Paola" last="Giunti">Paola Giunti</name></author><author><name sortKey="Goold, Robert G" sort="Goold, Robert G" uniqKey="Goold R" first="Robert G" last="Goold">Robert G. Goold</name></author><author><name sortKey="Davis, Mary B" sort="Davis, Mary B" uniqKey="Davis M" first="Mary B" last="Davis">Mary B. Davis</name></author><author><name sortKey="Houlden, Henry" sort="Houlden, Henry" uniqKey="Houlden H" first="Henry" last="Houlden">Henry Houlden</name></author><author><name sortKey="Tabrizi, Sarah J" sort="Tabrizi, Sarah J" uniqKey="Tabrizi S" first="Sarah J" last="Tabrizi">Sarah J. Tabrizi</name></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2010">2010</date><idno type="doi">10.1002/mds.23223</idno><idno type="RBID">pubmed:20669319</idno><idno type="pmid">20669319</idno><idno type="wicri:Area/PubMed/Corpus">001655</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">An ITPR1 gene deletion causes spinocerebellar ataxia 15/16: a genetic, clinical and radiological description.</title><author><name sortKey="Novak, Marianne J U" sort="Novak, Marianne J U" uniqKey="Novak M" first="Marianne J U" last="Novak">Marianne J U. Novak</name><affiliation><nlm:affiliation>Department of Neurogenetics, The National Hospital for Neurology and Neurosurgery, London, UK.</nlm:affiliation></affiliation></author><author><name sortKey="Sweeney, Mary G" sort="Sweeney, Mary G" uniqKey="Sweeney M" first="Mary G" last="Sweeney">Mary G. Sweeney</name></author><author><name sortKey="Li, Abi" sort="Li, Abi" uniqKey="Li A" first="Abi" last="Li">Abi Li</name></author><author><name sortKey="Treacy, Colm" sort="Treacy, Colm" uniqKey="Treacy C" first="Colm" last="Treacy">Colm Treacy</name></author><author><name sortKey="Chandrashekar, Hoskote S" sort="Chandrashekar, Hoskote S" uniqKey="Chandrashekar H" first="Hoskote S" last="Chandrashekar">Hoskote S. Chandrashekar</name></author><author><name sortKey="Giunti, Paola" sort="Giunti, Paola" uniqKey="Giunti P" first="Paola" last="Giunti">Paola Giunti</name></author><author><name sortKey="Goold, Robert G" sort="Goold, Robert G" uniqKey="Goold R" first="Robert G" last="Goold">Robert G. Goold</name></author><author><name sortKey="Davis, Mary B" sort="Davis, Mary B" uniqKey="Davis M" first="Mary B" last="Davis">Mary B. Davis</name></author><author><name sortKey="Houlden, Henry" sort="Houlden, Henry" uniqKey="Houlden H" first="Henry" last="Houlden">Henry Houlden</name></author><author><name sortKey="Tabrizi, Sarah J" sort="Tabrizi, Sarah J" uniqKey="Tabrizi S" first="Sarah J" last="Tabrizi">Sarah J. Tabrizi</name></author></analytic><series><title level="j">Movement disorders : official journal of the Movement Disorder Society</title><idno type="eISSN">1531-8257</idno><imprint><date when="2010" type="published">2010</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adult</term><term>Family Health</term><term>Female</term><term>Gene Deletion</term><term>Genetic Testing</term><term>Humans</term><term>Inositol 1,4,5-Trisphosphate Receptors (genetics)</term><term>Magnetic Resonance Imaging (methods)</term><term>Male</term><term>Middle Aged</term><term>Polymorphism, Single Nucleotide (genetics)</term><term>Spinocerebellar Ataxias (classification)</term><term>Spinocerebellar Ataxias (genetics)</term><term>Spinocerebellar Ataxias (pathology)</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Inositol 1,4,5-Trisphosphate Receptors</term></keywords><keywords scheme="MESH" qualifier="classification" xml:lang="en"><term>Spinocerebellar Ataxias</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Polymorphism, Single Nucleotide</term><term>Spinocerebellar Ataxias</term></keywords><keywords scheme="MESH" qualifier="methods" xml:lang="en"><term>Magnetic Resonance Imaging</term></keywords><keywords scheme="MESH" qualifier="pathology" xml:lang="en"><term>Spinocerebellar Ataxias</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adult</term><term>Family Health</term><term>Female</term><term>Gene Deletion</term><term>Genetic Testing</term><term>Humans</term><term>Male</term><term>Middle Aged</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">The purpose of this study was to characterise a novel family with very slowly progressive pure spinocerebellar ataxia (SCA) caused by a deletion in the inositol 1,4,5-triphosphate receptor 1 (ITPR1) gene on chromosome 3. This is a detailed clinical, genetic, and radiological description of the genotype. Deletions in ITPR1 have been shown to cause SCA15/SCA16 in six families to date. A further Japanese family has been identified with an ITPR1 point mutation. The exact prevalence is as yet unknown, but is probably higher than previously thought. The clinical phenotype of the family is described, and videotaped clinical examinations are presented. Serial brain magnetic resonance imaging studies were carried out on one affected individual, and genetic analysis was performed on several family members. Protein analysis confirmed the ITPR1 deletion. Affected subjects display a remarkably slow, almost pure cerebellar syndrome. Serial magnetic resonance imaging shows moderate cerebellar atrophy with mild inferior parietal and temporal cortical volume loss. Genetic analysis shows a deletion of 346,487 bp in ITPR1 (the second largest ITPR1 deletion reported to date), suggesting SCA15 is due to a loss of ITPR1 function. Western blotting of lymphoblastoid cell line protein confirms reduced ITPR1 protein levels. SCA15 is a slowly or nonprogressive pure cerebellar ataxia, which appears to be caused by a loss of ITPR1 function and a reduction in the translated protein. Patients with nonprogressive or slowly progressive ataxia should be screened for ITPR1 defects.</div></front></TEI><pubmed><MedlineCitation Owner="NLM" Status="MEDLINE"><PMID Version="1">20669319</PMID><DateCreated><Year>2010</Year><Month>10</Month><Day>08</Day></DateCreated><DateCompleted><Year>2011</Year><Month>01</Month><Day>26</Day></DateCompleted><DateRevised><Year>2014</Year><Month>02</Month><Day>19</Day></DateRevised><Article PubModel="Print"><Journal><ISSN IssnType="Electronic">1531-8257</ISSN><JournalIssue CitedMedium="Internet"><Volume>25</Volume><Issue>13</Issue><PubDate><Year>2010</Year><Month>Oct</Month><Day>15</Day></PubDate></JournalIssue><Title>Movement disorders : official journal of the Movement Disorder Society</Title><ISOAbbreviation>Mov. Disord.</ISOAbbreviation></Journal><ArticleTitle>An ITPR1 gene deletion causes spinocerebellar ataxia 15/16: a genetic, clinical and radiological description.</ArticleTitle><Pagination><MedlinePgn>2176-82</MedlinePgn></Pagination><ELocationID EIdType="doi" ValidYN="Y">10.1002/mds.23223</ELocationID><Abstract><AbstractText>The purpose of this study was to characterise a novel family with very slowly progressive pure spinocerebellar ataxia (SCA) caused by a deletion in the inositol 1,4,5-triphosphate receptor 1 (ITPR1) gene on chromosome 3. This is a detailed clinical, genetic, and radiological description of the genotype. Deletions in ITPR1 have been shown to cause SCA15/SCA16 in six families to date. A further Japanese family has been identified with an ITPR1 point mutation. The exact prevalence is as yet unknown, but is probably higher than previously thought. The clinical phenotype of the family is described, and videotaped clinical examinations are presented. Serial brain magnetic resonance imaging studies were carried out on one affected individual, and genetic analysis was performed on several family members. Protein analysis confirmed the ITPR1 deletion. Affected subjects display a remarkably slow, almost pure cerebellar syndrome. Serial magnetic resonance imaging shows moderate cerebellar atrophy with mild inferior parietal and temporal cortical volume loss. Genetic analysis shows a deletion of 346,487 bp in ITPR1 (the second largest ITPR1 deletion reported to date), suggesting SCA15 is due to a loss of ITPR1 function. Western blotting of lymphoblastoid cell line protein confirms reduced ITPR1 protein levels. SCA15 is a slowly or nonprogressive pure cerebellar ataxia, which appears to be caused by a loss of ITPR1 function and a reduction in the translated protein. Patients with nonprogressive or slowly progressive ataxia should be screened for ITPR1 defects.</AbstractText></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Novak</LastName><ForeName>Marianne J U</ForeName><Initials>MJ</Initials><AffiliationInfo><Affiliation>Department of Neurogenetics, The National Hospital for Neurology and Neurosurgery, London, UK.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Sweeney</LastName><ForeName>Mary G</ForeName><Initials>MG</Initials></Author><Author ValidYN="Y"><LastName>Li</LastName><ForeName>Abi</ForeName><Initials>A</Initials></Author><Author ValidYN="Y"><LastName>Treacy</LastName><ForeName>Colm</ForeName><Initials>C</Initials></Author><Author ValidYN="Y"><LastName>Chandrashekar</LastName><ForeName>Hoskote S</ForeName><Initials>HS</Initials></Author><Author ValidYN="Y"><LastName>Giunti</LastName><ForeName>Paola</ForeName><Initials>P</Initials></Author><Author ValidYN="Y"><LastName>Goold</LastName><ForeName>Robert G</ForeName><Initials>RG</Initials></Author><Author ValidYN="Y"><LastName>Davis</LastName><ForeName>Mary B</ForeName><Initials>MB</Initials></Author><Author ValidYN="Y"><LastName>Houlden</LastName><ForeName>Henry</ForeName><Initials>H</Initials></Author><Author ValidYN="Y"><LastName>Tabrizi</LastName><ForeName>Sarah J</ForeName><Initials>SJ</Initials></Author></AuthorList><Language>eng</Language><GrantList CompleteYN="Y"><Grant><GrantID>G0802760</GrantID><Agency>Medical Research Council</Agency><Country>United Kingdom</Country></Grant><Grant><Agency>Department of Health</Agency><Country>United Kingdom</Country></Grant><Grant><Agency>Medical Research Council</Agency><Country>United Kingdom</Country></Grant></GrantList><PublicationTypeList><PublicationType UI="D016428">Journal Article</PublicationType><PublicationType UI="D013485">Research Support, Non-U.S. Gov't</PublicationType></PublicationTypeList></Article><MedlineJournalInfo><Country>United States</Country><MedlineTA>Mov Disord</MedlineTA><NlmUniqueID>8610688</NlmUniqueID><ISSNLinking>0885-3185</ISSNLinking></MedlineJournalInfo><ChemicalList><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="C506926">ITPR1 protein, human</NameOfSubstance></Chemical><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="D053496">Inositol 1,4,5-Trisphosphate Receptors</NameOfSubstance></Chemical></ChemicalList><CitationSubset>IM</CitationSubset><MeshHeadingList><MeshHeading><DescriptorName MajorTopicYN="N" UI="D000328">Adult</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D005192">Family Health</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D005260">Female</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="Y" UI="D017353">Gene Deletion</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D005820">Genetic Testing</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D006801">Humans</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D053496">Inositol 1,4,5-Trisphosphate Receptors</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D008279">Magnetic Resonance Imaging</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000379">methods</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D008297">Male</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D008875">Middle Aged</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D020641">Polymorphism, Single Nucleotide</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D020754">Spinocerebellar Ataxias</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000145">classification</QualifierName><QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName><QualifierName MajorTopicYN="Y" UI="Q000473">pathology</QualifierName></MeshHeading></MeshHeadingList></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus="entrez"><Year>2010</Year><Month>7</Month><Day>30</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="pubmed"><Year>2010</Year><Month>7</Month><Day>30</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="medline"><Year>2011</Year><Month>1</Month><Day>28</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate></History><PublicationStatus>ppublish</PublicationStatus><ArticleIdList><ArticleId IdType="doi">10.1002/mds.23223</ArticleId><ArticleId IdType="pubmed">20669319</ArticleId></ArticleIdList></PubmedData></pubmed></record>Pour manipuler ce document sous Unix (Dilib)
EXPLOR_STEP=$WICRI_ROOT/Wicri/Santé/explor/MovDisordV3/Data/PubMed/Corpus
HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 001655 | SxmlIndent | more
Ou
HfdSelect -h $EXPLOR_AREA/Data/PubMed/Corpus/biblio.hfd -nk 001655 | SxmlIndent | more
Pour mettre un lien sur cette page dans le réseau Wicri
{{Explor lien
|wiki= Wicri/Santé
|area= MovDisordV3
|flux= PubMed
|étape= Corpus
|type= RBID
|clé= pubmed:20669319
|texte= An ITPR1 gene deletion causes spinocerebellar ataxia 15/16: a genetic, clinical and radiological description.
}}
Pour générer des pages wiki
HfdIndexSelect -h $EXPLOR_AREA/Data/PubMed/Corpus/RBID.i -Sk "pubmed:20669319" \
| HfdSelect -Kh $EXPLOR_AREA/Data/PubMed/Corpus/biblio.hfd \
| NlmPubMed2Wicri -a MovDisordV3
| This area was generated with Dilib version V0.6.23. |  |