Clinical and genetic characterization of 16q-linked autosomal dominant spinocerebellar ataxia in South Kyushu, Japan
16q-ADCA (OMIM no. 117210) is an autosomal dominant spinocerebellar ataxia (AD-SCA) characterized by late-onset pure cerebellar ataxia and −16C>T substitution of the puratrophin-1 gene. Recently, a series of single-nucleotide polymorphisms (haplotype block) were found to be specific to 16q-ADCA....
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| Veröffentlicht in: | Journal of human genetics 2009-07, Vol.54 (7), p.377-381 |
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| creator | Hirano, Ryuki Takashima, Hiroshi Okubo, Ryuichi Okamoto, Yuji Maki, Yoshimitsu Ishida, Shimon Suehara, Masahito Hokezu, Youichi Arimura, Kimiyoshi |
| description | 16q-ADCA (OMIM no. 117210) is an autosomal dominant spinocerebellar ataxia (AD-SCA) characterized by late-onset pure cerebellar ataxia and −16C>T substitution of the
puratrophin-1
gene. Recently, a series of single-nucleotide polymorphisms (haplotype block) were found to be specific to 16q-ADCA. We screened patients with ataxia and found 62 patients, including four homozygotes who carry the C–T substitution of the
puratrophin-1
gene. By further analysis of the patients with the haplotype block, we observed a single-founder effect for 16q-ADCA, even in patients who are supposed to be sporadic late cortical cerebellar atrophy (LCCA). We also observed slippage mutations of microsatellite markers, GATA01 and 17msm, in the pedigrees. We compared the clinical course of 16q-ADCA in heterozygotes and homozygotes with the haplotype block and observed no apparent gene dosage effect. 16q-ADCA accounts for 27% of AD-SCAs and is the most frequent AD-SCA in South Kyushu, Japan. |
| doi_str_mv | 10.1038/jhg.2009.44 |
| format | Article |
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puratrophin-1
gene. Recently, a series of single-nucleotide polymorphisms (haplotype block) were found to be specific to 16q-ADCA. We screened patients with ataxia and found 62 patients, including four homozygotes who carry the C–T substitution of the
puratrophin-1
gene. By further analysis of the patients with the haplotype block, we observed a single-founder effect for 16q-ADCA, even in patients who are supposed to be sporadic late cortical cerebellar atrophy (LCCA). We also observed slippage mutations of microsatellite markers, GATA01 and 17msm, in the pedigrees. We compared the clinical course of 16q-ADCA in heterozygotes and homozygotes with the haplotype block and observed no apparent gene dosage effect. 16q-ADCA accounts for 27% of AD-SCAs and is the most frequent AD-SCA in South Kyushu, Japan.</description><identifier>ISSN: 1434-5161</identifier><identifier>EISSN: 1435-232X</identifier><identifier>DOI: 10.1038/jhg.2009.44</identifier><identifier>PMID: 19444286</identifier><language>eng</language><publisher>London: Nature Publishing Group UK</publisher><subject>Aged ; Aged, 80 and over ; Ataxia ; Atrophy ; Biomedical and Life Sciences ; Biomedicine ; Cerebellar ataxia ; Cerebellum ; Chromosome 16 ; Chromosomes, Human, Pair 16 - genetics ; Founder effect ; Gene dosage ; Gene Expression ; Gene Function ; Gene Therapy ; Genes, Dominant ; Genetic markers ; Haplotypes ; Heterozygote ; Heterozygotes ; Homozygote ; Homozygotes ; Human Genetics ; Humans ; Japan ; Kaplan-Meier Estimate ; Microsatellite Repeats - genetics ; Microsatellites ; Middle Aged ; Molecular Medicine ; original-article ; Physical Chromosome Mapping ; Polymorphism, Single Nucleotide - genetics ; Single-nucleotide polymorphism ; Spinocerebellar Ataxias - genetics ; Spinocerebellar Ataxias - pathology ; Wheelchairs</subject><ispartof>Journal of human genetics, 2009-07, Vol.54 (7), p.377-381</ispartof><rights>The Japan Society of Human Genetics 2009</rights><rights>The Japan Society of Human Genetics 2009.</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c563t-c9531e985ffa92abb9eac882824ec1ee30ec60a396fe4dd63a2408a176a1b2123</citedby><cites>FETCH-LOGICAL-c563t-c9531e985ffa92abb9eac882824ec1ee30ec60a396fe4dd63a2408a176a1b2123</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,780,784,27924,27925</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/19444286$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Hirano, Ryuki</creatorcontrib><creatorcontrib>Takashima, Hiroshi</creatorcontrib><creatorcontrib>Okubo, Ryuichi</creatorcontrib><creatorcontrib>Okamoto, Yuji</creatorcontrib><creatorcontrib>Maki, Yoshimitsu</creatorcontrib><creatorcontrib>Ishida, Shimon</creatorcontrib><creatorcontrib>Suehara, Masahito</creatorcontrib><creatorcontrib>Hokezu, Youichi</creatorcontrib><creatorcontrib>Arimura, Kimiyoshi</creatorcontrib><title>Clinical and genetic characterization of 16q-linked autosomal dominant spinocerebellar ataxia in South Kyushu, Japan</title><title>Journal of human genetics</title><addtitle>J Hum Genet</addtitle><addtitle>J Hum Genet</addtitle><description>16q-ADCA (OMIM no. 117210) is an autosomal dominant spinocerebellar ataxia (AD-SCA) characterized by late-onset pure cerebellar ataxia and −16C>T substitution of the
puratrophin-1
gene. Recently, a series of single-nucleotide polymorphisms (haplotype block) were found to be specific to 16q-ADCA. We screened patients with ataxia and found 62 patients, including four homozygotes who carry the C–T substitution of the
puratrophin-1
gene. By further analysis of the patients with the haplotype block, we observed a single-founder effect for 16q-ADCA, even in patients who are supposed to be sporadic late cortical cerebellar atrophy (LCCA). We also observed slippage mutations of microsatellite markers, GATA01 and 17msm, in the pedigrees. We compared the clinical course of 16q-ADCA in heterozygotes and homozygotes with the haplotype block and observed no apparent gene dosage effect. 16q-ADCA accounts for 27% of AD-SCAs and is the most frequent AD-SCA in South Kyushu, Japan.</description><subject>Aged</subject><subject>Aged, 80 and over</subject><subject>Ataxia</subject><subject>Atrophy</subject><subject>Biomedical and Life Sciences</subject><subject>Biomedicine</subject><subject>Cerebellar ataxia</subject><subject>Cerebellum</subject><subject>Chromosome 16</subject><subject>Chromosomes, Human, Pair 16 - genetics</subject><subject>Founder effect</subject><subject>Gene dosage</subject><subject>Gene Expression</subject><subject>Gene Function</subject><subject>Gene Therapy</subject><subject>Genes, Dominant</subject><subject>Genetic markers</subject><subject>Haplotypes</subject><subject>Heterozygote</subject><subject>Heterozygotes</subject><subject>Homozygote</subject><subject>Homozygotes</subject><subject>Human Genetics</subject><subject>Humans</subject><subject>Japan</subject><subject>Kaplan-Meier Estimate</subject><subject>Microsatellite Repeats - genetics</subject><subject>Microsatellites</subject><subject>Middle Aged</subject><subject>Molecular Medicine</subject><subject>original-article</subject><subject>Physical Chromosome Mapping</subject><subject>Polymorphism, Single Nucleotide - genetics</subject><subject>Single-nucleotide polymorphism</subject><subject>Spinocerebellar Ataxias - genetics</subject><subject>Spinocerebellar Ataxias - pathology</subject><subject>Wheelchairs</subject><issn>1434-5161</issn><issn>1435-232X</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2009</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><sourceid>ABUWG</sourceid><sourceid>AFKRA</sourceid><sourceid>AZQEC</sourceid><sourceid>BENPR</sourceid><sourceid>CCPQU</sourceid><sourceid>DWQXO</sourceid><sourceid>GNUQQ</sourceid><recordid>eNp90c2L1DAYBvAiivuhJ-8a8KDgdsxX2_Qow_q54EEFb-Ft-nYmY5vMJim4_vWmO4MLIp4SyC9PPp6ieMLoilGhXu-2mxWntF1Jea84ZVJUJRf8-_3buSwrVrOT4izGHaVU8IY_LE5YK6Xkqj4t0nq0zhoYCbiebNBhsoaYLQQwCYP9Bcl6R_xAWH1dZvsDewJz8tFPeVPvJ-vAJRL31nmDATscRwgEEvy0QKwjX_yctuTTzRy38wX5CHtwj4oHA4wRHx_H8-Lb28uv6_fl1ed3H9ZvrkpT1SKVpq0Ew1ZVwwAth65rEYxSXHGJhiEKiqamINp6QNn3tQAuqQLW1MA6zrg4L14ccvfBX88Yk55sNMsFHfo56kaIqqENVVm-_K9cfpIKpm5Dn_9Fd34OLr9Dc8k5zZ1UVVavDsoEH2PAQe-DnSDcaEb1UpvOtemlNi1l1k-PmXM3YX9njz1lcHEAMS-5DYa7Q_-d9-zAHaQ54J-8bBaSxW_lyayo</recordid><startdate>20090701</startdate><enddate>20090701</enddate><creator>Hirano, Ryuki</creator><creator>Takashima, Hiroshi</creator><creator>Okubo, Ryuichi</creator><creator>Okamoto, Yuji</creator><creator>Maki, Yoshimitsu</creator><creator>Ishida, Shimon</creator><creator>Suehara, Masahito</creator><creator>Hokezu, Youichi</creator><creator>Arimura, Kimiyoshi</creator><general>Nature Publishing Group UK</general><general>Nature Publishing Group</general><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>3V.</scope><scope>7X7</scope><scope>7XB</scope><scope>88E</scope><scope>8FD</scope><scope>8FE</scope><scope>8FH</scope><scope>8FI</scope><scope>8FJ</scope><scope>8FK</scope><scope>ABUWG</scope><scope>AFKRA</scope><scope>AZQEC</scope><scope>BBNVY</scope><scope>BENPR</scope><scope>BHPHI</scope><scope>CCPQU</scope><scope>DWQXO</scope><scope>FR3</scope><scope>FYUFA</scope><scope>GHDGH</scope><scope>GNUQQ</scope><scope>HCIFZ</scope><scope>K9.</scope><scope>LK8</scope><scope>M0S</scope><scope>M1P</scope><scope>M7P</scope><scope>P64</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>RC3</scope><scope>7TK</scope><scope>7X8</scope></search><sort><creationdate>20090701</creationdate><title>Clinical and genetic characterization of 16q-linked autosomal dominant spinocerebellar ataxia in South Kyushu, Japan</title><author>Hirano, Ryuki ; Takashima, Hiroshi ; Okubo, Ryuichi ; Okamoto, Yuji ; Maki, Yoshimitsu ; Ishida, Shimon ; Suehara, Masahito ; Hokezu, Youichi ; Arimura, Kimiyoshi</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c563t-c9531e985ffa92abb9eac882824ec1ee30ec60a396fe4dd63a2408a176a1b2123</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2009</creationdate><topic>Aged</topic><topic>Aged, 80 and over</topic><topic>Ataxia</topic><topic>Atrophy</topic><topic>Biomedical and Life Sciences</topic><topic>Biomedicine</topic><topic>Cerebellar ataxia</topic><topic>Cerebellum</topic><topic>Chromosome 16</topic><topic>Chromosomes, Human, Pair 16 - genetics</topic><topic>Founder effect</topic><topic>Gene dosage</topic><topic>Gene Expression</topic><topic>Gene Function</topic><topic>Gene Therapy</topic><topic>Genes, Dominant</topic><topic>Genetic markers</topic><topic>Haplotypes</topic><topic>Heterozygote</topic><topic>Heterozygotes</topic><topic>Homozygote</topic><topic>Homozygotes</topic><topic>Human Genetics</topic><topic>Humans</topic><topic>Japan</topic><topic>Kaplan-Meier Estimate</topic><topic>Microsatellite Repeats - genetics</topic><topic>Microsatellites</topic><topic>Middle Aged</topic><topic>Molecular Medicine</topic><topic>original-article</topic><topic>Physical Chromosome Mapping</topic><topic>Polymorphism, Single Nucleotide - genetics</topic><topic>Single-nucleotide polymorphism</topic><topic>Spinocerebellar Ataxias - genetics</topic><topic>Spinocerebellar Ataxias - pathology</topic><topic>Wheelchairs</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Hirano, Ryuki</creatorcontrib><creatorcontrib>Takashima, Hiroshi</creatorcontrib><creatorcontrib>Okubo, Ryuichi</creatorcontrib><creatorcontrib>Okamoto, Yuji</creatorcontrib><creatorcontrib>Maki, Yoshimitsu</creatorcontrib><creatorcontrib>Ishida, Shimon</creatorcontrib><creatorcontrib>Suehara, Masahito</creatorcontrib><creatorcontrib>Hokezu, Youichi</creatorcontrib><creatorcontrib>Arimura, Kimiyoshi</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>ProQuest Central (Corporate)</collection><collection>Health & Medical Collection</collection><collection>ProQuest Central (purchase pre-March 2016)</collection><collection>Medical Database (Alumni Edition)</collection><collection>Technology Research Database</collection><collection>ProQuest SciTech Collection</collection><collection>ProQuest Natural Science Collection</collection><collection>Hospital Premium Collection</collection><collection>Hospital Premium Collection (Alumni Edition)</collection><collection>ProQuest Central (Alumni) (purchase pre-March 2016)</collection><collection>ProQuest Central (Alumni Edition)</collection><collection>ProQuest Central UK/Ireland</collection><collection>ProQuest Central Essentials</collection><collection>Biological Science Collection</collection><collection>ProQuest Central</collection><collection>Natural Science Collection</collection><collection>ProQuest One Community College</collection><collection>ProQuest Central Korea</collection><collection>Engineering Research Database</collection><collection>Health Research Premium Collection</collection><collection>Health Research Premium Collection (Alumni)</collection><collection>ProQuest Central Student</collection><collection>SciTech Premium Collection</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>ProQuest Biological Science Collection</collection><collection>Health & Medical Collection (Alumni Edition)</collection><collection>Medical Database</collection><collection>Biological Science Database</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>ProQuest One Academic Eastern Edition (DO NOT USE)</collection><collection>ProQuest One Academic</collection><collection>ProQuest One Academic UKI Edition</collection><collection>Genetics Abstracts</collection><collection>Neurosciences Abstracts</collection><collection>MEDLINE - Academic</collection><jtitle>Journal of human genetics</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Hirano, Ryuki</au><au>Takashima, Hiroshi</au><au>Okubo, Ryuichi</au><au>Okamoto, Yuji</au><au>Maki, Yoshimitsu</au><au>Ishida, Shimon</au><au>Suehara, Masahito</au><au>Hokezu, Youichi</au><au>Arimura, Kimiyoshi</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Clinical and genetic characterization of 16q-linked autosomal dominant spinocerebellar ataxia in South Kyushu, Japan</atitle><jtitle>Journal of human genetics</jtitle><stitle>J Hum Genet</stitle><addtitle>J Hum Genet</addtitle><date>2009-07-01</date><risdate>2009</risdate><volume>54</volume><issue>7</issue><spage>377</spage><epage>381</epage><pages>377-381</pages><issn>1434-5161</issn><eissn>1435-232X</eissn><abstract>16q-ADCA (OMIM no. 117210) is an autosomal dominant spinocerebellar ataxia (AD-SCA) characterized by late-onset pure cerebellar ataxia and −16C>T substitution of the
puratrophin-1
gene. Recently, a series of single-nucleotide polymorphisms (haplotype block) were found to be specific to 16q-ADCA. We screened patients with ataxia and found 62 patients, including four homozygotes who carry the C–T substitution of the
puratrophin-1
gene. By further analysis of the patients with the haplotype block, we observed a single-founder effect for 16q-ADCA, even in patients who are supposed to be sporadic late cortical cerebellar atrophy (LCCA). We also observed slippage mutations of microsatellite markers, GATA01 and 17msm, in the pedigrees. We compared the clinical course of 16q-ADCA in heterozygotes and homozygotes with the haplotype block and observed no apparent gene dosage effect. 16q-ADCA accounts for 27% of AD-SCAs and is the most frequent AD-SCA in South Kyushu, Japan.</abstract><cop>London</cop><pub>Nature Publishing Group UK</pub><pmid>19444286</pmid><doi>10.1038/jhg.2009.44</doi><tpages>5</tpages><oa>free_for_read</oa></addata></record> |
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| subjects | Aged Aged, 80 and over Ataxia Atrophy Biomedical and Life Sciences Biomedicine Cerebellar ataxia Cerebellum Chromosome 16 Chromosomes, Human, Pair 16 - genetics Founder effect Gene dosage Gene Expression Gene Function Gene Therapy Genes, Dominant Genetic markers Haplotypes Heterozygote Heterozygotes Homozygote Homozygotes Human Genetics Humans Japan Kaplan-Meier Estimate Microsatellite Repeats - genetics Microsatellites Middle Aged Molecular Medicine original-article Physical Chromosome Mapping Polymorphism, Single Nucleotide - genetics Single-nucleotide polymorphism Spinocerebellar Ataxias - genetics Spinocerebellar Ataxias - pathology Wheelchairs |
| title | Clinical and genetic characterization of 16q-linked autosomal dominant spinocerebellar ataxia in South Kyushu, Japan |
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