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 : 001A09 ( PascalFrancis/Corpus ); précédent : 001A08; suivant : 001A10Identification 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 ; Hideshi Kawakami ; Kimiko Inoue ; Takahiro Seki ; Hirofumi Maruyama ; Hiroyuki Morino ; Masayasu Matsumoto ; Kaoru Kurisu ; Norio SakaiSource :
- Movement disorders [ 0885-3185 ] ; 2006.
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- Pascal (Inist)
English descriptors
- KwdEn :
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 Serll9-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.
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Format Inist (serveur)
NO : | PASCAL 06-0518087 INIST |
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ET : | Identification of a new family of spinocerebellar ataxia type 14 in the japanese spinocerebellar ataxia population by the screening of PRKCG exon 4 |
AU : | HIRAMOTO (Keiko); KAWAKAMI (Hideshi); INOUE (Kimiko); SEKI (Takahiro); MARUYAMA (Hirofumi); MORINO (Hiroyuki); MATSUMOTO (Masayasu); KURISU (Kaoru); SAKAI (Norio) |
AF : | Department of Neurosurgery, Graduate School of Biomedical Sciences, Hiroshima University/Minami-ku, Hiroshima/Japon (1 aut., 8 aut.); Department of Molecular and Pharmacological Neuroscience, Graduate School of Biomedical Sciences, Hiroshima University/Minami-ku, Hiroshima/Japon (1 aut., 4 aut., 9 aut.); Department of Clinical Neuroscience and Therapeutics, Graduate School of Biomedical Sciences, Hiroshima University/Minami-ku, Hiroshima/Japon (2 aut., 5 aut., 6 aut., 7 aut.); Department of Neurology, Hyogo Rehabilitation Center Hospital/Nishi-ku, Kobe/Japon (3 aut.) |
DT : | Publication en série; Niveau analytique |
SO : | Movement disorders; ISSN 0885-3185; Etats-Unis; Da. 2006; Vol. 21; No. 9; Pp. 1355-1360; Bibl. 18 ref. |
LA : | Anglais |
EA : | 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 Serll9-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. |
CC : | 002B17; 002B17G; 002B05C02B |
FD : | Système nerveux pathologie; Ataxie spinocérébelleuse; Japonais; Dépistage; Exon; Protein kinase C; Mutation ponctuelle |
FG : | Transferases; Enzyme; Maladie dégénérative; Maladie héréditaire; Système nerveux central pathologie |
ED : | Nervous system diseases; Spinocerebellar ataxia; Japanese; Medical screening; Exon; Protein kinase C; Point mutation |
EG : | Transferases; Enzyme; Degenerative disease; Genetic disease; Central nervous system disease |
SD : | Sistema nervioso patología; Ataxia spinocerebelosa; Japonés; Descubrimiento; Exón; Protein kinase C; Mutación puntual |
LO : | INIST-20953.354000158780860090 |
ID : | 06-0518087 |
Links to Exploration step
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<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 Serll9-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>
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<s5>09</s5>
</fC03>
<fC03 i1="02" i2="X" l="SPA"><s0>Ataxia spinocerebelosa</s0>
<s2>NM</s2>
<s5>09</s5>
</fC03>
<fC03 i1="03" i2="X" l="FRE"><s0>Japonais</s0>
<s5>10</s5>
</fC03>
<fC03 i1="03" i2="X" l="ENG"><s0>Japanese</s0>
<s5>10</s5>
</fC03>
<fC03 i1="03" i2="X" l="SPA"><s0>Japonés</s0>
<s5>10</s5>
</fC03>
<fC03 i1="04" i2="X" l="FRE"><s0>Dépistage</s0>
<s5>11</s5>
</fC03>
<fC03 i1="04" i2="X" l="ENG"><s0>Medical screening</s0>
<s5>11</s5>
</fC03>
<fC03 i1="04" i2="X" l="SPA"><s0>Descubrimiento</s0>
<s5>11</s5>
</fC03>
<fC03 i1="05" i2="X" l="FRE"><s0>Exon</s0>
<s5>12</s5>
</fC03>
<fC03 i1="05" i2="X" l="ENG"><s0>Exon</s0>
<s5>12</s5>
</fC03>
<fC03 i1="05" i2="X" l="SPA"><s0>Exón</s0>
<s5>12</s5>
</fC03>
<fC03 i1="06" i2="X" l="FRE"><s0>Protein kinase C</s0>
<s2>FE</s2>
<s5>13</s5>
</fC03>
<fC03 i1="06" i2="X" l="ENG"><s0>Protein kinase C</s0>
<s2>FE</s2>
<s5>13</s5>
</fC03>
<fC03 i1="06" i2="X" l="SPA"><s0>Protein kinase C</s0>
<s2>FE</s2>
<s5>13</s5>
</fC03>
<fC03 i1="07" i2="X" l="FRE"><s0>Mutation ponctuelle</s0>
<s5>14</s5>
</fC03>
<fC03 i1="07" i2="X" l="ENG"><s0>Point mutation</s0>
<s5>14</s5>
</fC03>
<fC03 i1="07" i2="X" l="SPA"><s0>Mutación puntual</s0>
<s5>14</s5>
</fC03>
<fC07 i1="01" i2="X" l="FRE"><s0>Transferases</s0>
<s2>FE</s2>
</fC07>
<fC07 i1="01" i2="X" l="ENG"><s0>Transferases</s0>
<s2>FE</s2>
</fC07>
<fC07 i1="01" i2="X" l="SPA"><s0>Transferases</s0>
<s2>FE</s2>
</fC07>
<fC07 i1="02" i2="X" l="FRE"><s0>Enzyme</s0>
<s2>FE</s2>
</fC07>
<fC07 i1="02" i2="X" l="ENG"><s0>Enzyme</s0>
<s2>FE</s2>
</fC07>
<fC07 i1="02" i2="X" l="SPA"><s0>Enzima</s0>
<s2>FE</s2>
</fC07>
<fC07 i1="03" i2="X" l="FRE"><s0>Maladie dégénérative</s0>
<s5>37</s5>
</fC07>
<fC07 i1="03" i2="X" l="ENG"><s0>Degenerative disease</s0>
<s5>37</s5>
</fC07>
<fC07 i1="03" i2="X" l="SPA"><s0>Enfermedad degenerativa</s0>
<s5>37</s5>
</fC07>
<fC07 i1="04" i2="X" l="FRE"><s0>Maladie héréditaire</s0>
<s5>38</s5>
</fC07>
<fC07 i1="04" i2="X" l="ENG"><s0>Genetic disease</s0>
<s5>38</s5>
</fC07>
<fC07 i1="04" i2="X" l="SPA"><s0>Enfermedad hereditaria</s0>
<s5>38</s5>
</fC07>
<fC07 i1="05" i2="X" l="FRE"><s0>Système nerveux central pathologie</s0>
<s5>39</s5>
</fC07>
<fC07 i1="05" i2="X" l="ENG"><s0>Central nervous system disease</s0>
<s5>39</s5>
</fC07>
<fC07 i1="05" i2="X" l="SPA"><s0>Sistema nervosio central patología</s0>
<s5>39</s5>
</fC07>
<fN21><s1>338</s1>
</fN21>
<fN44 i1="01"><s1>OTO</s1>
</fN44>
<fN82><s1>OTO</s1>
</fN82>
</pA>
</standard>
<server><NO>PASCAL 06-0518087 INIST</NO>
<ET>Identification of a new family of spinocerebellar ataxia type 14 in the japanese spinocerebellar ataxia population by the screening of PRKCG exon 4</ET>
<AU>HIRAMOTO (Keiko); KAWAKAMI (Hideshi); INOUE (Kimiko); SEKI (Takahiro); MARUYAMA (Hirofumi); MORINO (Hiroyuki); MATSUMOTO (Masayasu); KURISU (Kaoru); SAKAI (Norio)</AU>
<AF>Department of Neurosurgery, Graduate School of Biomedical Sciences, Hiroshima University/Minami-ku, Hiroshima/Japon (1 aut., 8 aut.); Department of Molecular and Pharmacological Neuroscience, Graduate School of Biomedical Sciences, Hiroshima University/Minami-ku, Hiroshima/Japon (1 aut., 4 aut., 9 aut.); Department of Clinical Neuroscience and Therapeutics, Graduate School of Biomedical Sciences, Hiroshima University/Minami-ku, Hiroshima/Japon (2 aut., 5 aut., 6 aut., 7 aut.); Department of Neurology, Hyogo Rehabilitation Center Hospital/Nishi-ku, Kobe/Japon (3 aut.)</AF>
<DT>Publication en série; Niveau analytique</DT>
<SO>Movement disorders; ISSN 0885-3185; Etats-Unis; Da. 2006; Vol. 21; No. 9; Pp. 1355-1360; Bibl. 18 ref.</SO>
<LA>Anglais</LA>
<EA>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 Serll9-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.</EA>
<CC>002B17; 002B17G; 002B05C02B</CC>
<FD>Système nerveux pathologie; Ataxie spinocérébelleuse; Japonais; Dépistage; Exon; Protein kinase C; Mutation ponctuelle</FD>
<FG>Transferases; Enzyme; Maladie dégénérative; Maladie héréditaire; Système nerveux central pathologie</FG>
<ED>Nervous system diseases; Spinocerebellar ataxia; Japanese; Medical screening; Exon; Protein kinase C; Point mutation</ED>
<EG>Transferases; Enzyme; Degenerative disease; Genetic disease; Central nervous system disease</EG>
<SD>Sistema nervioso patología; Ataxia spinocerebelosa; Japonés; Descubrimiento; Exón; Protein kinase C; Mutación puntual</SD>
<LO>INIST-20953.354000158780860090</LO>
<ID>06-0518087</ID>
</server>
</inist>
</record>
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