MovDisordV3, Main, Exploration, bibRecordById, pubmed:16763984

Identification of a new family of spinocerebellar ataxia type 14 in the japanese spinocerebellar ataxia population by the screening of PRKCG exon 4

Identifieur interne : 003393 ( Main/Exploration ); précédent : 003392; suivant : 003394

Identification of a new family of spinocerebellar ataxia type 14 in the japanese spinocerebellar ataxia population by the screening of PRKCG exon 4

Auteurs : Keiko Hiramoto [Japon] ; Hideshi Kawakami [Japon] ; Kimiko Inoue [Japon] ; Takahiro Seki [Japon] ; Hirofumi Maruyama [Japon] ; Hiroyuki Morino [Japon] ; Masayasu Matsumoto [Japon] ; Kaoru Kurisu [Japon] ; Norio Sakai [Japon]

Source :

Movement Disorders [ 0885-3185 ] ; 2006-09.

RBID : ISTEX:2E6CA4F03264336AA86E384DFCB4810E15D1162E

Descripteurs français

Pascal (Inist)
- Ataxie spinocérébelleuse, Dépistage, Exon, Japonais, Mutation ponctuelle, Protein kinase C, Système nerveux pathologie.
Wicri :
- geographic : Japon.

English descriptors

KwdEn :
- Adult, Aged, Amino Acid Substitution (genetics), Brain (pathology), DNA Mutational Analysis, Exon, Exons, Female, Genetic Testing, Humans, Introns, Japan, Japanese, Magnetic Resonance Imaging, Male, Medical screening, Middle Aged, Mutation, Missense, Nervous system diseases, Pedigree, Phenylalanine (genetics), Point Mutation, Point mutation, Polymerase Chain Reaction, Polymorphism, Genetic (genetics), Protein Kinase C (genetics), Protein kinase C, Serine (genetics), Spinocerebellar Ataxias (diagnosis), Spinocerebellar Ataxias (genetics), Spinocerebellar ataxia, point mutation, protein kinase C, spinocerebellar ataxia.
MESH :
- chemical , genetics : Phenylalanine, Protein Kinase C, Serine.
- geographic : Japan.
- diagnosis : Spinocerebellar Ataxias.
- genetics : Amino Acid Substitution, Polymorphism, Genetic, Spinocerebellar Ataxias.
- pathology : Brain.
- Adult, Aged, DNA Mutational Analysis, Exons, Female, Genetic Testing, Humans, Introns, Magnetic Resonance Imaging, Male, Middle Aged, Mutation, Missense, Pedigree, Point Mutation, Polymerase Chain Reaction.

Abstract

Spinocerebellar ataxia type 14 (SCA14) is an autosomal dominant neurodegenerative disorder characterized by cerebellar ataxia and intermittent axial myoclonus. Various mutations have been found in the PRKCG gene encoding protein kinase C γ in SCA14 families. Most of those mutations have been found in exon 4 of the PRKCG gene. We performed polymerase chain reaction (PCR)–based screening to clarify the approximate morbidity rate of the disease in the Japanese SCA population. We screened exon 4 of the PRKCG gene in 882 SCA patients with undefined etiologies using denaturing high‐performance liquid chromatography and subsequent direct sequencing. We found a novel C/T missense mutation with a Ser119‐to‐Phe substitution (S119F) in 2 patients and subsequently found that they belonged to the same family. This S119F mutation was not found in 259 control individuals. Further PCR‐based analysis revealed an additional 5 members with the same mutation in this family. Cerebellar ataxia was manifested in 5 of those 7 members. The main symptom in 4 of the 5 affected members was pure cerebellar ataxia with late onset. They had no myoclonus, extrapyramidal signs, ophthalmoplegia, or intellectual disturbance, some of which were found in previously reported SCA families. One patient showed intractable epilepsy, severe walking disturbance, and trunk ataxia with early onset. The results of this study suggest that the frequency of SCA14 in the Japanese SCA population is very low. © 2006 Movement Disorder Society

Url:

https://api.istex.fr/document/2E6CA4F03264336AA86E384DFCB4810E15D1162E/fulltext/pdf

DOI: 10.1002/mds.20970

Affiliations:

Japon

Le document en format XML

<record><TEI wicri:istexFullTextTei="biblStruct"><teiHeader><fileDesc><titleStmt><title xml:lang="en">Identification of a new family of spinocerebellar ataxia type 14 in the japanese spinocerebellar ataxia population by the screening of PRKCG exon 4</title>
<author><name sortKey="Hiramoto, Keiko" sort="Hiramoto, Keiko" uniqKey="Hiramoto K" first="Keiko" last="Hiramoto">Keiko Hiramoto</name>
</author>
<author><name sortKey="Kawakami, Hideshi" sort="Kawakami, Hideshi" uniqKey="Kawakami H" first="Hideshi" last="Kawakami">Hideshi Kawakami</name>
</author>
<author><name sortKey="Inoue, Kimiko" sort="Inoue, Kimiko" uniqKey="Inoue K" first="Kimiko" last="Inoue">Kimiko Inoue</name>
</author>
<author><name sortKey="Seki, Takahiro" sort="Seki, Takahiro" uniqKey="Seki T" first="Takahiro" last="Seki">Takahiro Seki</name>
</author>
<author><name sortKey="Maruyama, Hirofumi" sort="Maruyama, Hirofumi" uniqKey="Maruyama H" first="Hirofumi" last="Maruyama">Hirofumi Maruyama</name>
</author>
<author><name sortKey="Morino, Hiroyuki" sort="Morino, Hiroyuki" uniqKey="Morino H" first="Hiroyuki" last="Morino">Hiroyuki Morino</name>
</author>
<author><name sortKey="Matsumoto, Masayasu" sort="Matsumoto, Masayasu" uniqKey="Matsumoto M" first="Masayasu" last="Matsumoto">Masayasu Matsumoto</name>
</author>
<author><name sortKey="Kurisu, Kaoru" sort="Kurisu, Kaoru" uniqKey="Kurisu K" first="Kaoru" last="Kurisu">Kaoru Kurisu</name>
</author>
<author><name sortKey="Sakai, Norio" sort="Sakai, Norio" uniqKey="Sakai N" first="Norio" last="Sakai">Norio Sakai</name>
</author>
</titleStmt>
<publicationStmt><idno type="wicri:source">ISTEX</idno>
<idno type="RBID">ISTEX:2E6CA4F03264336AA86E384DFCB4810E15D1162E</idno>
<date when="2006" year="2006">2006</date>
<idno type="doi">10.1002/mds.20970</idno>
<idno type="url">https://api.istex.fr/document/2E6CA4F03264336AA86E384DFCB4810E15D1162E/fulltext/pdf</idno>
<idno type="wicri:Area/Istex/Corpus">001667</idno>
<idno type="wicri:Area/Istex/Curation">001667</idno>
<idno type="wicri:Area/Istex/Checkpoint">001E52</idno>
<idno type="wicri:doubleKey">0885-3185:2006:Hiramoto K:identification:of:a</idno>
<idno type="wicri:source">PubMed</idno>
<idno type="RBID">pubmed:16763984</idno>
<idno type="wicri:Area/PubMed/Corpus">002C00</idno>
<idno type="wicri:Area/PubMed/Curation">002C00</idno>
<idno type="wicri:Area/PubMed/Checkpoint">002C84</idno>
<idno type="wicri:Area/Ncbi/Merge">001736</idno>
<idno type="wicri:Area/Ncbi/Curation">001736</idno>
<idno type="wicri:Area/Ncbi/Checkpoint">001736</idno>
<idno type="wicri:doubleKey">0885-3185:2006:Hiramoto K:identification:of:a</idno>
<idno type="wicri:Area/Main/Merge">004706</idno>
<idno type="wicri:source">INIST</idno>
<idno type="RBID">Pascal:06-0518087</idno>
<idno type="wicri:Area/PascalFrancis/Corpus">001A09</idno>
<idno type="wicri:Area/PascalFrancis/Curation">001312</idno>
<idno type="wicri:Area/PascalFrancis/Checkpoint">001A64</idno>
<idno type="wicri:doubleKey">0885-3185:2006:Hiramoto K:identification:of:a</idno>
<idno type="wicri:Area/Main/Merge">004B59</idno>
<idno type="wicri:Area/Main/Curation">003393</idno>
<idno type="wicri:Area/Main/Exploration">003393</idno>
</publicationStmt>
<sourceDesc><biblStruct><analytic><title level="a" type="main" xml:lang="en">Identification of a new family of spinocerebellar ataxia type 14 in the japanese spinocerebellar ataxia population by the screening of PRKCG exon 4</title>
<author><name sortKey="Hiramoto, Keiko" sort="Hiramoto, Keiko" uniqKey="Hiramoto K" first="Keiko" last="Hiramoto">Keiko Hiramoto</name>
<affiliation wicri:level="1"><country xml:lang="fr">Japon</country>
<wicri:regionArea>Department of Neurosurgery, Graduate School of Biomedical Sciences, Hiroshima University, Minami‐ku, Hiroshima</wicri:regionArea>
<wicri:noRegion>Hiroshima</wicri:noRegion>
</affiliation>
<affiliation wicri:level="1"><country xml:lang="fr">Japon</country>
<wicri:regionArea>Department of Molecular and Pharmacological Neuroscience, Graduate School of Biomedical Sciences, Hiroshima University, Minami‐ku, Hiroshima</wicri:regionArea>
<wicri:noRegion>Hiroshima</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Kawakami, Hideshi" sort="Kawakami, Hideshi" uniqKey="Kawakami H" first="Hideshi" last="Kawakami">Hideshi Kawakami</name>
<affiliation wicri:level="1"><country xml:lang="fr">Japon</country>
<wicri:regionArea>Department of Clinical Neuroscience and Therapeutics, Graduate School of Biomedical Sciences, Hiroshima University, Minami‐ku, Hiroshima</wicri:regionArea>
<wicri:noRegion>Hiroshima</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Inoue, Kimiko" sort="Inoue, Kimiko" uniqKey="Inoue K" first="Kimiko" last="Inoue">Kimiko Inoue</name>
<affiliation wicri:level="1"><country xml:lang="fr">Japon</country>
<wicri:regionArea>Department of Neurology, Hyogo Rehabilitation Center Hospital, Nishi‐ku, Kobe</wicri:regionArea>
<wicri:noRegion>Kobe</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Seki, Takahiro" sort="Seki, Takahiro" uniqKey="Seki T" first="Takahiro" last="Seki">Takahiro Seki</name>
<affiliation wicri:level="1"><country xml:lang="fr">Japon</country>
<wicri:regionArea>Department of Molecular and Pharmacological Neuroscience, Graduate School of Biomedical Sciences, Hiroshima University, Minami‐ku, Hiroshima</wicri:regionArea>
<wicri:noRegion>Hiroshima</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Maruyama, Hirofumi" sort="Maruyama, Hirofumi" uniqKey="Maruyama H" first="Hirofumi" last="Maruyama">Hirofumi Maruyama</name>
<affiliation wicri:level="1"><country xml:lang="fr">Japon</country>
<wicri:regionArea>Department of Clinical Neuroscience and Therapeutics, Graduate School of Biomedical Sciences, Hiroshima University, Minami‐ku, Hiroshima</wicri:regionArea>
<wicri:noRegion>Hiroshima</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Morino, Hiroyuki" sort="Morino, Hiroyuki" uniqKey="Morino H" first="Hiroyuki" last="Morino">Hiroyuki Morino</name>
<affiliation wicri:level="1"><country xml:lang="fr">Japon</country>
<wicri:regionArea>Department of Clinical Neuroscience and Therapeutics, Graduate School of Biomedical Sciences, Hiroshima University, Minami‐ku, Hiroshima</wicri:regionArea>
<wicri:noRegion>Hiroshima</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Matsumoto, Masayasu" sort="Matsumoto, Masayasu" uniqKey="Matsumoto M" first="Masayasu" last="Matsumoto">Masayasu Matsumoto</name>
<affiliation wicri:level="1"><country xml:lang="fr">Japon</country>
<wicri:regionArea>Department of Clinical Neuroscience and Therapeutics, Graduate School of Biomedical Sciences, Hiroshima University, Minami‐ku, Hiroshima</wicri:regionArea>
<wicri:noRegion>Hiroshima</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Kurisu, Kaoru" sort="Kurisu, Kaoru" uniqKey="Kurisu K" first="Kaoru" last="Kurisu">Kaoru Kurisu</name>
<affiliation wicri:level="1"><country xml:lang="fr">Japon</country>
<wicri:regionArea>Department of Neurosurgery, Graduate School of Biomedical Sciences, Hiroshima University, Minami‐ku, Hiroshima</wicri:regionArea>
<wicri:noRegion>Hiroshima</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Sakai, Norio" sort="Sakai, Norio" uniqKey="Sakai N" first="Norio" last="Sakai">Norio Sakai</name>
<affiliation wicri:level="1"><country xml:lang="fr">Japon</country>
<wicri:regionArea>Department of Molecular and Pharmacological Neuroscience, Graduate School of Biomedical Sciences, Hiroshima University, Minami‐ku, Hiroshima</wicri:regionArea>
<wicri:noRegion>Hiroshima</wicri:noRegion>
</affiliation>
</author>
</analytic>
<monogr></monogr>
<series><title level="j">Movement Disorders</title>
<title level="j" type="sub">Official Journal of the Movement Disorder Society</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="2006-09">2006-09</date>
<biblScope unit="vol">21</biblScope>
<biblScope unit="issue">9</biblScope>
<biblScope unit="page" from="1355">1355</biblScope>
<biblScope unit="page" to="1360">1360</biblScope>
</imprint>
<idno type="ISSN">0885-3185</idno>
</series>
<idno type="istex">2E6CA4F03264336AA86E384DFCB4810E15D1162E</idno>
<idno type="DOI">10.1002/mds.20970</idno>
<idno type="ArticleID">MDS20970</idno>
</biblStruct>
</sourceDesc>
<seriesStmt><idno type="ISSN">0885-3185</idno>
</seriesStmt>
</fileDesc>
<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adult</term>
<term>Aged</term>
<term>Amino Acid Substitution (genetics)</term>
<term>Brain (pathology)</term>
<term>DNA Mutational Analysis</term>
<term>Exon</term>
<term>Exons</term>
<term>Female</term>
<term>Genetic Testing</term>
<term>Humans</term>
<term>Introns</term>
<term>Japan</term>
<term>Japanese</term>
<term>Magnetic Resonance Imaging</term>
<term>Male</term>
<term>Medical screening</term>
<term>Middle Aged</term>
<term>Mutation, Missense</term>
<term>Nervous system diseases</term>
<term>Pedigree</term>
<term>Phenylalanine (genetics)</term>
<term>Point Mutation</term>
<term>Point mutation</term>
<term>Polymerase Chain Reaction</term>
<term>Polymorphism, Genetic (genetics)</term>
<term>Protein Kinase C (genetics)</term>
<term>Protein kinase C</term>
<term>Serine (genetics)</term>
<term>Spinocerebellar Ataxias (diagnosis)</term>
<term>Spinocerebellar Ataxias (genetics)</term>
<term>Spinocerebellar ataxia</term>
<term>point mutation</term>
<term>protein kinase C</term>
<term>spinocerebellar ataxia</term>
</keywords>
<keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Phenylalanine</term>
<term>Protein Kinase C</term>
<term>Serine</term>
</keywords>
<keywords scheme="MESH" type="geographic" xml:lang="en"><term>Japan</term>
</keywords>
<keywords scheme="MESH" qualifier="diagnosis" xml:lang="en"><term>Spinocerebellar Ataxias</term>
</keywords>
<keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Amino Acid Substitution</term>
<term>Polymorphism, Genetic</term>
<term>Spinocerebellar Ataxias</term>
</keywords>
<keywords scheme="MESH" qualifier="pathology" xml:lang="en"><term>Brain</term>
</keywords>
<keywords scheme="MESH" xml:lang="en"><term>Adult</term>
<term>Aged</term>
<term>DNA Mutational Analysis</term>
<term>Exons</term>
<term>Female</term>
<term>Genetic Testing</term>
<term>Humans</term>
<term>Introns</term>
<term>Magnetic Resonance Imaging</term>
<term>Male</term>
<term>Middle Aged</term>
<term>Mutation, Missense</term>
<term>Pedigree</term>
<term>Point Mutation</term>
<term>Polymerase Chain Reaction</term>
</keywords>
<keywords scheme="Pascal" xml:lang="fr"><term>Ataxie spinocérébelleuse</term>
<term>Dépistage</term>
<term>Exon</term>
<term>Japonais</term>
<term>Mutation ponctuelle</term>
<term>Protein kinase C</term>
<term>Système nerveux pathologie</term>
</keywords>
<keywords scheme="Wicri" type="geographic" xml:lang="fr"><term>Japon</term>
</keywords>
</textClass>
<langUsage><language ident="en">en</language>
</langUsage>
</profileDesc>
</teiHeader>
<front><div type="abstract" xml:lang="en">Spinocerebellar ataxia type 14 (SCA14) is an autosomal dominant neurodegenerative disorder characterized by cerebellar ataxia and intermittent axial myoclonus. Various mutations have been found in the PRKCG gene encoding protein kinase C γ in SCA14 families. Most of those mutations have been found in exon 4 of the PRKCG gene. We performed polymerase chain reaction (PCR)–based screening to clarify the approximate morbidity rate of the disease in the Japanese SCA population. We screened exon 4 of the PRKCG gene in 882 SCA patients with undefined etiologies using denaturing high‐performance liquid chromatography and subsequent direct sequencing. We found a novel C/T missense mutation with a Ser119‐to‐Phe substitution (S119F) in 2 patients and subsequently found that they belonged to the same family. This S119F mutation was not found in 259 control individuals. Further PCR‐based analysis revealed an additional 5 members with the same mutation in this family. Cerebellar ataxia was manifested in 5 of those 7 members. The main symptom in 4 of the 5 affected members was pure cerebellar ataxia with late onset. They had no myoclonus, extrapyramidal signs, ophthalmoplegia, or intellectual disturbance, some of which were found in previously reported SCA families. One patient showed intractable epilepsy, severe walking disturbance, and trunk ataxia with early onset. The results of this study suggest that the frequency of SCA14 in the Japanese SCA population is very low. © 2006 Movement Disorder Society</div>
</front>
</TEI>
<affiliations><list><country><li>Japon</li>
</country>
</list>
<tree><country name="Japon"><noRegion><name sortKey="Hiramoto, Keiko" sort="Hiramoto, Keiko" uniqKey="Hiramoto K" first="Keiko" last="Hiramoto">Keiko Hiramoto</name>
</noRegion>
<name sortKey="Hiramoto, Keiko" sort="Hiramoto, Keiko" uniqKey="Hiramoto K" first="Keiko" last="Hiramoto">Keiko Hiramoto</name>
<name sortKey="Inoue, Kimiko" sort="Inoue, Kimiko" uniqKey="Inoue K" first="Kimiko" last="Inoue">Kimiko Inoue</name>
<name sortKey="Kawakami, Hideshi" sort="Kawakami, Hideshi" uniqKey="Kawakami H" first="Hideshi" last="Kawakami">Hideshi Kawakami</name>
<name sortKey="Kurisu, Kaoru" sort="Kurisu, Kaoru" uniqKey="Kurisu K" first="Kaoru" last="Kurisu">Kaoru Kurisu</name>
<name sortKey="Maruyama, Hirofumi" sort="Maruyama, Hirofumi" uniqKey="Maruyama H" first="Hirofumi" last="Maruyama">Hirofumi Maruyama</name>
<name sortKey="Matsumoto, Masayasu" sort="Matsumoto, Masayasu" uniqKey="Matsumoto M" first="Masayasu" last="Matsumoto">Masayasu Matsumoto</name>
<name sortKey="Morino, Hiroyuki" sort="Morino, Hiroyuki" uniqKey="Morino H" first="Hiroyuki" last="Morino">Hiroyuki Morino</name>
<name sortKey="Sakai, Norio" sort="Sakai, Norio" uniqKey="Sakai N" first="Norio" last="Sakai">Norio Sakai</name>
<name sortKey="Seki, Takahiro" sort="Seki, Takahiro" uniqKey="Seki T" first="Takahiro" last="Seki">Takahiro Seki</name>
</country>
</tree>
</affiliations>
</record>

Pour manipuler ce document sous Unix (Dilib)

EXPLOR_STEP=$WICRI_ROOT/Wicri/Santé/explor/MovDisordV3/Data/Main/Exploration

HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 003393 | SxmlIndent | more

HfdSelect -h $EXPLOR_AREA/Data/Main/Exploration/biblio.hfd -nk 003393 | SxmlIndent | more

Pour mettre un lien sur cette page dans le réseau Wicri

{{Explor lien
   |wiki=    Wicri/Santé
   |area=    MovDisordV3
   |flux=    Main
   |étape=   Exploration
   |type=    RBID
   |clé=     ISTEX:2E6CA4F03264336AA86E384DFCB4810E15D1162E
   |texte=   Identification of a new family of spinocerebellar ataxia type 14 in the japanese spinocerebellar ataxia population by the screening of PRKCG exon 4
}}

This area was generated with Dilib version V0.6.23.
Data generation: Sun Jul 3 12:29:32 2016. Site generation: Wed Feb 14 10:52:30 2024

Movement Disorders (revue)

Identification of a new family of spinocerebellar ataxia type 14 in the japanese spinocerebellar ataxia population by the screening of PRKCG exon 4

Identification of a new family of spinocerebellar ataxia type 14 in the japanese spinocerebellar ataxia population by the screening of PRKCG exon 4

Source :

Descripteurs français

English descriptors

Abstract

Links toward previous steps (curation, corpus...)

Le document en format XML

Pour manipuler ce document sous Unix (Dilib)

Pour mettre un lien sur cette page dans le réseau Wicri

	Movement Disorders (revue)
	Attention, ce site est en cours de développement ! Attention, site généré par des moyens informatiques à partir de corpus bruts. Les informations ne sont donc pas validées.