An ITPR1 gene deletion causes spinocerebellar ataxia 15/16: A genetic, clinical and radiological description
Identifieur interne : 001E55 ( Main/Curation ); précédent : 001E54; suivant : 001E56An ITPR1 gene deletion causes spinocerebellar ataxia 15/16: A genetic, clinical and radiological description
Auteurs : Marianne J. U. Novak [Royaume-Uni] ; Mary G. Sweeney [Royaume-Uni] ; Abi Li [Royaume-Uni] ; Colm Treacy [Royaume-Uni] ; Hoskote S. Chandrashekar [Royaume-Uni] ; Paola Giunti [Royaume-Uni] ; Robert G. Goold [Royaume-Uni] ; Mary B. Davis [Royaume-Uni] ; Henry Houlden [Royaume-Uni] ; Sarah J. Tabrizi [Royaume-Uni]Source :
- Movement Disorders [ 0885-3185 ] ; 2010-10-15.
Descripteurs français
- Pascal (Inist)
English descriptors
- KwdEn :
- Adult, Cerebellum, Deletion, Family Health, Female, Gene Deletion, Genetic Testing, Genetic linkage, Humans, Inositol 1,4,5-Trisphosphate Receptors (genetics), Magnetic Resonance Imaging (methods), Male, Middle Aged, Nervous system diseases, Nuclear magnetic resonance imaging, Polymorphism, Single Nucleotide (genetics), Spinocerebellar Ataxias (classification), Spinocerebellar Ataxias (genetics), Spinocerebellar Ataxias (pathology), Spinocerebellar ataxia, cerebellum, linkage (genetics), magnetic resonance imaging, movement disorders, spinocerebellar ataxias.
- 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. © 2010 Movement Disorder Society.
Url:
DOI: 10.1002/mds.23223
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<term>Deletion</term>
<term>Family Health</term>
<term>Female</term>
<term>Gene Deletion</term>
<term>Genetic Testing</term>
<term>Genetic linkage</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>Nervous system diseases</term>
<term>Nuclear magnetic resonance imaging</term>
<term>Polymorphism, Single Nucleotide (genetics)</term>
<term>Spinocerebellar Ataxias (classification)</term>
<term>Spinocerebellar Ataxias (genetics)</term>
<term>Spinocerebellar Ataxias (pathology)</term>
<term>Spinocerebellar ataxia</term>
<term>cerebellum</term>
<term>linkage (genetics)</term>
<term>magnetic resonance imaging</term>
<term>movement disorders</term>
<term>spinocerebellar ataxias</term>
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<keywords scheme="MESH" qualifier="classification" xml:lang="en"><term>Spinocerebellar Ataxias</term>
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<keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Polymorphism, Single Nucleotide</term>
<term>Spinocerebellar Ataxias</term>
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<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>
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<keywords scheme="Pascal" xml:lang="fr"><term>Ataxie spinocérébelleuse</term>
<term>Cervelet</term>
<term>Délétion</term>
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<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. © 2010 Movement Disorder Society.</div>
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<author><name sortKey="Giunti, Paola" sort="Giunti, Paola" uniqKey="Giunti P" first="Paola" last="Giunti">Paola Giunti</name>
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<author><name sortKey="Goold, Robert G" sort="Goold, Robert G" uniqKey="Goold R" first="Robert G." last="Goold">Robert G. Goold</name>
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<author><name sortKey="Davis, Mary B" sort="Davis, Mary B" uniqKey="Davis M" first="Mary B." last="Davis">Mary B. Davis</name>
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</author>
<author><name sortKey="Houlden, Henry" sort="Houlden, Henry" uniqKey="Houlden H" first="Henry" last="Houlden">Henry Houlden</name>
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<s2>London</s2>
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<affiliation wicri:level="3"><inist:fA14 i1="04"><s1>Department of Molecular Neuroscience, UCL Institute of Neurology</s1>
<s2>London</s2>
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<author><name sortKey="Tabrizi, Sarah J" sort="Tabrizi, Sarah J" uniqKey="Tabrizi S" first="Sarah J." last="Tabrizi">Sarah J. Tabrizi</name>
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<s2>London</s2>
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<placeName><settlement type="city">Londres</settlement>
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<region type="région" nuts="1">Grand Londres</region>
</placeName>
</affiliation>
<affiliation wicri:level="3"><inist:fA14 i1="05"><s1>Department of Neurodegenerative Disease, UCL Institute of Neurology</s1>
<s2>London</s2>
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</titleStmt>
<publicationStmt><idno type="wicri:source">INIST</idno>
<idno type="inist">10-0474370</idno>
<date when="2010">2010</date>
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<idno type="wicri:Area/Main/Merge">002792</idno>
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<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a">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>
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<s2>London</s2>
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</placeName>
</affiliation>
<affiliation wicri:level="3"><inist:fA14 i1="03"><s1>Wellcome Trust Centre for Neuroimaging, UCL Institute of Neurology</s1>
<s2>London</s2>
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<sZ>1 aut.</sZ>
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<placeName><settlement type="city">Londres</settlement>
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</affiliation>
</author>
<author><name sortKey="Sweeney, Mary G" sort="Sweeney, Mary G" uniqKey="Sweeney M" first="Mary G." last="Sweeney">Mary G. Sweeney</name>
<affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Department of Neurogenetics, The National Hospital for Neurology and Neurosurgery</s1>
<s2>London</s2>
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<country>Royaume-Uni</country>
<placeName><settlement type="city">Londres</settlement>
<region type="country">Angleterre</region>
<region type="région" nuts="1">Grand Londres</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Li, Abi" sort="Li, Abi" uniqKey="Li A" first="Abi" last="Li">Abi Li</name>
<affiliation wicri:level="3"><inist:fA14 i1="04"><s1>Department of Molecular Neuroscience, UCL Institute of Neurology</s1>
<s2>London</s2>
<s3>GBR</s3>
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<region type="country">Angleterre</region>
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</placeName>
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</author>
<author><name sortKey="Treacy, Colm" sort="Treacy, Colm" uniqKey="Treacy C" first="Colm" last="Treacy">Colm Treacy</name>
<affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Department of Neurogenetics, The National Hospital for Neurology and Neurosurgery</s1>
<s2>London</s2>
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<sZ>1 aut.</sZ>
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</placeName>
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</author>
<author><name sortKey="Chandrashekar, Hoskote S" sort="Chandrashekar, Hoskote S" uniqKey="Chandrashekar H" first="Hoskote S." last="Chandrashekar">Hoskote S. Chandrashekar</name>
<affiliation wicri:level="3"><inist:fA14 i1="02"><s1>Lysholm Department of Neuroradiology, The National Hospital for Neurology and Neurosurgery</s1>
<s2>London</s2>
<s3>GBR</s3>
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<region type="country">Angleterre</region>
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<author><name sortKey="Giunti, Paola" sort="Giunti, Paola" uniqKey="Giunti P" first="Paola" last="Giunti">Paola Giunti</name>
<affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Department of Neurogenetics, The National Hospital for Neurology and Neurosurgery</s1>
<s2>London</s2>
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<author><name sortKey="Goold, Robert G" sort="Goold, Robert G" uniqKey="Goold R" first="Robert G." last="Goold">Robert G. Goold</name>
<affiliation wicri:level="3"><inist:fA14 i1="05"><s1>Department of Neurodegenerative Disease, UCL Institute of Neurology</s1>
<s2>London</s2>
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<region type="country">Angleterre</region>
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<author><name sortKey="Davis, Mary B" sort="Davis, Mary B" uniqKey="Davis M" first="Mary B." last="Davis">Mary B. Davis</name>
<affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Department of Neurogenetics, The National Hospital for Neurology and Neurosurgery</s1>
<s2>London</s2>
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</author>
<author><name sortKey="Houlden, Henry" sort="Houlden, Henry" uniqKey="Houlden H" first="Henry" last="Houlden">Henry Houlden</name>
<affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Department of Neurogenetics, The National Hospital for Neurology and Neurosurgery</s1>
<s2>London</s2>
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<region type="country">Angleterre</region>
<region type="région" nuts="1">Grand Londres</region>
</placeName>
</affiliation>
<affiliation wicri:level="3"><inist:fA14 i1="04"><s1>Department of Molecular Neuroscience, UCL Institute of Neurology</s1>
<s2>London</s2>
<s3>GBR</s3>
<sZ>3 aut.</sZ>
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<region type="country">Angleterre</region>
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</placeName>
</affiliation>
</author>
<author><name sortKey="Tabrizi, Sarah J" sort="Tabrizi, Sarah J" uniqKey="Tabrizi S" first="Sarah J." last="Tabrizi">Sarah J. Tabrizi</name>
<affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Department of Neurogenetics, The National Hospital for Neurology and Neurosurgery</s1>
<s2>London</s2>
<s3>GBR</s3>
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<region type="country">Angleterre</region>
<region type="région" nuts="1">Grand Londres</region>
</placeName>
</affiliation>
<affiliation wicri:level="3"><inist:fA14 i1="05"><s1>Department of Neurodegenerative Disease, UCL Institute of Neurology</s1>
<s2>London</s2>
<s3>GBR</s3>
<sZ>7 aut.</sZ>
<sZ>10 aut.</sZ>
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<country>Royaume-Uni</country>
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<region type="country">Angleterre</region>
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</placeName>
</affiliation>
</author>
</analytic>
<series><title level="j" type="main">Movement disorders</title>
<title level="j" type="abbreviated">Mov. disord.</title>
<idno type="ISSN">0885-3185</idno>
<imprint><date when="2010">2010</date>
</imprint>
</series>
</biblStruct>
</sourceDesc>
<seriesStmt><title level="j" type="main">Movement disorders</title>
<title level="j" type="abbreviated">Mov. disord.</title>
<idno type="ISSN">0885-3185</idno>
</seriesStmt>
</fileDesc>
<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Cerebellum</term>
<term>Deletion</term>
<term>Genetic linkage</term>
<term>Nervous system diseases</term>
<term>Nuclear magnetic resonance imaging</term>
<term>Spinocerebellar ataxia</term>
</keywords>
<keywords scheme="Pascal" xml:lang="fr"><term>Délétion</term>
<term>Pathologie du système nerveux</term>
<term>Ataxie spinocérébelleuse</term>
<term>Cervelet</term>
<term>Liaison génétique</term>
<term>Imagerie RMN</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 (ITPRI) gene on chromosome 3. This is a detailed clinical, genetic, and radiological description of the genotype. Deletions in ITPRI have been shown to cause SCA15/SCA16 in six families to date. A further Japanese family has been identified with an ITPRI 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 ITPRI function and a reduction in the translated protein. Patients with nonprogressive or slowly progressive ataxia should be screened for ITPRI defects.</div>
</front>
</TEI>
</INIST>
<ISTEX><TEI wicri:istexFullTextTei="biblStruct"><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>
</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>
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<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>
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<idno type="RBID">ISTEX:A4760C22791CE4367B182D5904B4BB1369A06596</idno>
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<idno type="doi">10.1002/mds.23223</idno>
<idno type="url">https://api.istex.fr/document/A4760C22791CE4367B182D5904B4BB1369A06596/fulltext/pdf</idno>
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<idno type="wicri:Area/Main/Merge">002291</idno>
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<sourceDesc><biblStruct><analytic><title level="a" type="main" 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 wicri:level="3"><country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>Department of Neurogenetics, The National Hospital for Neurology and Neurosurgery, London</wicri:regionArea>
<placeName><settlement type="city">Londres</settlement>
<region type="country">Angleterre</region>
<region type="région" nuts="1">Grand Londres</region>
</placeName>
</affiliation>
<affiliation wicri:level="3"><country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>Wellcome Trust Centre for Neuroimaging, UCL Institute of Neurology, London</wicri:regionArea>
<placeName><settlement type="city">Londres</settlement>
<region type="country">Angleterre</region>
<region type="région" nuts="1">Grand Londres</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Sweeney, Mary G" sort="Sweeney, Mary G" uniqKey="Sweeney M" first="Mary G." last="Sweeney">Mary G. Sweeney</name>
<affiliation wicri:level="3"><country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>Department of Neurogenetics, The National Hospital for Neurology and Neurosurgery, London</wicri:regionArea>
<placeName><settlement type="city">Londres</settlement>
<region type="country">Angleterre</region>
<region type="région" nuts="1">Grand Londres</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Li, Abi" sort="Li, Abi" uniqKey="Li A" first="Abi" last="Li">Abi Li</name>
<affiliation wicri:level="3"><country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>Department of Molecular Neuroscience, UCL Institute of Neurology, London</wicri:regionArea>
<placeName><settlement type="city">Londres</settlement>
<region type="country">Angleterre</region>
<region type="région" nuts="1">Grand Londres</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Treacy, Colm" sort="Treacy, Colm" uniqKey="Treacy C" first="Colm" last="Treacy">Colm Treacy</name>
<affiliation wicri:level="3"><country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>Department of Neurogenetics, The National Hospital for Neurology and Neurosurgery, London</wicri:regionArea>
<placeName><settlement type="city">Londres</settlement>
<region type="country">Angleterre</region>
<region type="région" nuts="1">Grand Londres</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Chandrashekar, Hoskote S" sort="Chandrashekar, Hoskote S" uniqKey="Chandrashekar H" first="Hoskote S." last="Chandrashekar">Hoskote S. Chandrashekar</name>
<affiliation wicri:level="3"><country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>Lysholm Department of Neuroradiology, The National Hospital for Neurology and Neurosurgery, London</wicri:regionArea>
<placeName><settlement type="city">Londres</settlement>
<region type="country">Angleterre</region>
<region type="région" nuts="1">Grand Londres</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Giunti, Paola" sort="Giunti, Paola" uniqKey="Giunti P" first="Paola" last="Giunti">Paola Giunti</name>
<affiliation wicri:level="3"><country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>Department of Neurogenetics, The National Hospital for Neurology and Neurosurgery, London</wicri:regionArea>
<placeName><settlement type="city">Londres</settlement>
<region type="country">Angleterre</region>
<region type="région" nuts="1">Grand Londres</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Goold, Robert G" sort="Goold, Robert G" uniqKey="Goold R" first="Robert G." last="Goold">Robert G. Goold</name>
<affiliation wicri:level="3"><country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>Department of Neurodegenerative Disease, UCL Institute of Neurology, London</wicri:regionArea>
<placeName><settlement type="city">Londres</settlement>
<region type="country">Angleterre</region>
<region type="région" nuts="1">Grand Londres</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Davis, Mary B" sort="Davis, Mary B" uniqKey="Davis M" first="Mary B." last="Davis">Mary B. Davis</name>
<affiliation wicri:level="3"><country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>Department of Neurogenetics, The National Hospital for Neurology and Neurosurgery, London</wicri:regionArea>
<placeName><settlement type="city">Londres</settlement>
<region type="country">Angleterre</region>
<region type="région" nuts="1">Grand Londres</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Houlden, Henry" sort="Houlden, Henry" uniqKey="Houlden H" first="Henry" last="Houlden">Henry Houlden</name>
<affiliation wicri:level="3"><country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>Department of Neurogenetics, The National Hospital for Neurology and Neurosurgery, London</wicri:regionArea>
<placeName><settlement type="city">Londres</settlement>
<region type="country">Angleterre</region>
<region type="région" nuts="1">Grand Londres</region>
</placeName>
</affiliation>
<affiliation wicri:level="3"><country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>Department of Molecular Neuroscience, UCL Institute of Neurology, London</wicri:regionArea>
<placeName><settlement type="city">Londres</settlement>
<region type="country">Angleterre</region>
<region type="région" nuts="1">Grand Londres</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Tabrizi, Sarah J" sort="Tabrizi, Sarah J" uniqKey="Tabrizi S" first="Sarah J." last="Tabrizi">Sarah J. Tabrizi</name>
<affiliation wicri:level="3"><country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>Department of Neurogenetics, The National Hospital for Neurology and Neurosurgery, London</wicri:regionArea>
<placeName><settlement type="city">Londres</settlement>
<region type="country">Angleterre</region>
<region type="région" nuts="1">Grand Londres</region>
</placeName>
</affiliation>
<affiliation wicri:level="3"><country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>Department of Neurodegenerative Disease, UCL Institute of Neurology, London</wicri:regionArea>
<placeName><settlement type="city">Londres</settlement>
<region type="country">Angleterre</region>
<region type="région" nuts="1">Grand Londres</region>
</placeName>
</affiliation>
</author>
</analytic>
<monogr></monogr>
<series><title level="j">Movement Disorders</title>
<title level="j" type="abbrev">Mov. Disord.</title>
<idno type="ISSN">0885-3185</idno>
<idno type="eISSN">1531-8257</idno>
<imprint><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher>
<pubPlace>Hoboken</pubPlace>
<date type="published" when="2010-10-15">2010-10-15</date>
<biblScope unit="vol">25</biblScope>
<biblScope unit="issue">13</biblScope>
<biblScope unit="page" from="2176">2176</biblScope>
<biblScope unit="page" to="2182">2182</biblScope>
</imprint>
<idno type="ISSN">0885-3185</idno>
</series>
<idno type="istex">A4760C22791CE4367B182D5904B4BB1369A06596</idno>
<idno type="DOI">10.1002/mds.23223</idno>
<idno type="ArticleID">MDS23223</idno>
</biblStruct>
</sourceDesc>
<seriesStmt><idno type="ISSN">0885-3185</idno>
</seriesStmt>
</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>
<term>cerebellum</term>
<term>linkage (genetics)</term>
<term>magnetic resonance imaging</term>
<term>movement disorders</term>
<term>spinocerebellar ataxias</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>
<langUsage><language ident="en">en</language>
</langUsage>
</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. © 2010 Movement Disorder Society.</div>
</front>
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