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 : 001736 ( Ncbi/Checkpoint ); précédent : 001735; suivant : 001737Identification 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 ; Kimiko Inoue ; Takahiro Seki ; Hirofumi Maruyama ; Hiroyuki Morino ; Masayasu Matsumoto ; Kaoru Kurisu ; Norio SakaiSource :
- Movement disorders : official journal of the Movement Disorder Society [ 0885-3185 ] ; 2006.
Descripteurs français
- Wicri :
- geographic : Japon.
English descriptors
- KwdEn :
- Adult, Aged, Amino Acid Substitution (genetics), Brain (pathology), DNA Mutational Analysis, Exons, Female, Genetic Testing, Humans, Introns, Japan, Magnetic Resonance Imaging, Male, Middle Aged, Mutation, Missense, Pedigree, Phenylalanine (genetics), Point Mutation, Polymerase Chain Reaction, Polymorphism, Genetic (genetics), Protein Kinase C (genetics), Serine (genetics), Spinocerebellar Ataxias (diagnosis), Spinocerebellar Ataxias (genetics).
- 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 gamma 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.
DOI: 10.1002/mds.20970
PubMed: 16763984
Affiliations:
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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 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Hiroshima, Japan.</nlm:affiliation><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="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></analytic><series><title level="j">Movement disorders : official journal of the Movement Disorder Society</title><idno type="ISSN">0885-3185</idno><imprint><date when="2006" type="published">2006</date></imprint></series></biblStruct></sourceDesc></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>Exons</term><term>Female</term><term>Genetic Testing</term><term>Humans</term><term>Introns</term><term>Japan</term><term>Magnetic Resonance Imaging</term><term>Male</term><term>Middle Aged</term><term>Mutation, Missense</term><term>Pedigree</term><term>Phenylalanine (genetics)</term><term>Point Mutation</term><term>Polymerase Chain Reaction</term><term>Polymorphism, Genetic (genetics)</term><term>Protein Kinase C (genetics)</term><term>Serine (genetics)</term><term>Spinocerebellar Ataxias (diagnosis)</term><term>Spinocerebellar Ataxias (genetics)</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="Wicri" type="geographic" xml:lang="fr"><term>Japon</term></keywords></textClass></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 gamma 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.</div></front></TEI><affiliations><list><country><li>Japon</li></country></list><tree><noCountry><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></noCountry><country name="Japon"><noRegion><name sortKey="Hiramoto, Keiko" sort="Hiramoto, Keiko" uniqKey="Hiramoto K" first="Keiko" last="Hiramoto">Keiko Hiramoto</name></noRegion></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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