MovDisordV3, Main, Exploration, bibRecord, 001E55

An ITPR1 gene deletion causes spinocerebellar ataxia 15/16: A genetic, clinical and radiological description

Identifieur interne : 001E55 ( Main/Exploration ); précédent : 001E54; suivant : 001E56

An 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.

RBID : ISTEX:A4760C22791CE4367B182D5904B4BB1369A06596

Descripteurs français

Pascal (Inist)
- Ataxie spinocérébelleuse, Cervelet, Délétion, Imagerie RMN, Liaison génétique, Pathologie du système nerveux.

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:

https://api.istex.fr/document/A4760C22791CE4367B182D5904B4BB1369A06596/fulltext/pdf

DOI: 10.1002/mds.23223

Affiliations:

Le document en format XML

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<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adult</term>
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<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>
<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>
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<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>
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<term>Cervelet</term>
<term>Délétion</term>
<term>Imagerie RMN</term>
<term>Liaison génétique</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>
</front>
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<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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Movement Disorders (revue)

An ITPR1 gene deletion causes spinocerebellar ataxia 15/16: A genetic, clinical and radiological description

An ITPR1 gene deletion causes spinocerebellar ataxia 15/16: A genetic, clinical and radiological description

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Descripteurs français

English descriptors

Abstract

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	Movement Disorders (revue)
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