Machado Joseph disease maps to the same region of chromosome 14 as the spinocerebellar ataxia type 3 locus
Machado Joseph disease (MJD) is an autosomal dominantly inherited neuro-degenerative disorder primarily affecting the motor system. It can be divided into three phenotypes based on the variable combination of a range of clinical symptoms including pyramidal and extra-pyramidal features, cerebellar d...
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| Veröffentlicht in: | Journal of medical genetics 1995-01, Vol.32 (1), p.25-31 |
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| creator | Twist, E C Casaubon, L K Ruttledge, M H Rao, V S Macleod, P M Radvany, J Zhao, Z Rosenberg, R N Farrer, L A Rouleau, G A |
| description | Machado Joseph disease (MJD) is an autosomal dominantly inherited neuro-degenerative disorder primarily affecting the motor system. It can be divided into three phenotypes based on the variable combination of a range of clinical symptoms including pyramidal and extra-pyramidal features, cerebellar deficits, and distal muscle atrophy. MJD is thought to be caused by mutation of a single gene which has recently been mapped, using genetic linkage analysis, to a 29 cM region on chromosome 14q24.3-q32 in five Japanese families. A second disorder, spinocerebellar ataxia type 3 (SCA3), which has clinical symptoms similar to MJD, has also been linked to the same region of chromosome 14q in two French families. In order to narrow down the region of chromosome 14 which contains the MJD locus and to determine if this region overlaps with the predisposing locus for SCA3, we have performed genetic linkage analysis in seven MJD families, six of Portuguese/Azorean origin and one of Brazilian origin, using nine microsatellite markers mapped to 14q24.3-q32. Our results localise the MJD locus in these families to an 11 cM interval flanked by the markers D14S68 and AFM343vf1. In addition we show that this 11 cM interval maps within the 15 cM interval containing the SCA3 locus, suggesting that these diseases are allelic. |
| doi_str_mv | 10.1136/jmg.32.1.25 |
| format | Article |
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It can be divided into three phenotypes based on the variable combination of a range of clinical symptoms including pyramidal and extra-pyramidal features, cerebellar deficits, and distal muscle atrophy. MJD is thought to be caused by mutation of a single gene which has recently been mapped, using genetic linkage analysis, to a 29 cM region on chromosome 14q24.3-q32 in five Japanese families. A second disorder, spinocerebellar ataxia type 3 (SCA3), which has clinical symptoms similar to MJD, has also been linked to the same region of chromosome 14q in two French families. In order to narrow down the region of chromosome 14 which contains the MJD locus and to determine if this region overlaps with the predisposing locus for SCA3, we have performed genetic linkage analysis in seven MJD families, six of Portuguese/Azorean origin and one of Brazilian origin, using nine microsatellite markers mapped to 14q24.3-q32. Our results localise the MJD locus in these families to an 11 cM interval flanked by the markers D14S68 and AFM343vf1. In addition we show that this 11 cM interval maps within the 15 cM interval containing the SCA3 locus, suggesting that these diseases are allelic.</description><identifier>ISSN: 0022-2593</identifier><identifier>ISSN: 1468-6244</identifier><identifier>EISSN: 1468-6244</identifier><identifier>DOI: 10.1136/jmg.32.1.25</identifier><identifier>PMID: 7897622</identifier><identifier>CODEN: JMDGAE</identifier><language>eng</language><publisher>London: BMJ Publishing Group Ltd</publisher><subject>Adult ; Aged ; Alleles ; Biological and medical sciences ; Brazil ; California ; cerebellar ataxia ; chromosome 14 ; Chromosome Mapping ; Chromosomes, Human, Pair 14 ; Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases ; Female ; gene mapping ; Genetic Linkage ; Haplotypes ; Humans ; loci ; Machado Joseph disease ; Machado-Joseph Disease - genetics ; Male ; man ; Medical sciences ; Middle Aged ; Neurology ; New England ; Pedigree ; Portugal - ethnology ; Spinocerebellar Degenerations - genetics</subject><ispartof>Journal of medical genetics, 1995-01, Vol.32 (1), p.25-31</ispartof><rights>1995 INIST-CNRS</rights><rights>Copyright BMJ Publishing Group LTD Jan 1995</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-b533t-7bf15124b97041c86b80dc55b1ba663ccde64015c6ac656ab8ca2e84e8fe4ebd3</citedby><cites>FETCH-LOGICAL-b533t-7bf15124b97041c86b80dc55b1ba663ccde64015c6ac656ab8ca2e84e8fe4ebd3</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC1050174/pdf/$$EPDF$$P50$$Gpubmedcentral$$H</linktopdf><linktohtml>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC1050174/$$EHTML$$P50$$Gpubmedcentral$$H</linktohtml><link.rule.ids>230,314,723,776,780,881,4010,27900,27901,27902,53766,53768</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=3406888$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/7897622$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Twist, E C</creatorcontrib><creatorcontrib>Casaubon, L K</creatorcontrib><creatorcontrib>Ruttledge, M H</creatorcontrib><creatorcontrib>Rao, V S</creatorcontrib><creatorcontrib>Macleod, P M</creatorcontrib><creatorcontrib>Radvany, J</creatorcontrib><creatorcontrib>Zhao, Z</creatorcontrib><creatorcontrib>Rosenberg, R N</creatorcontrib><creatorcontrib>Farrer, L A</creatorcontrib><creatorcontrib>Rouleau, G A</creatorcontrib><title>Machado Joseph disease maps to the same region of chromosome 14 as the spinocerebellar ataxia type 3 locus</title><title>Journal of medical genetics</title><addtitle>J Med Genet</addtitle><description>Machado Joseph disease (MJD) is an autosomal dominantly inherited neuro-degenerative disorder primarily affecting the motor system. It can be divided into three phenotypes based on the variable combination of a range of clinical symptoms including pyramidal and extra-pyramidal features, cerebellar deficits, and distal muscle atrophy. MJD is thought to be caused by mutation of a single gene which has recently been mapped, using genetic linkage analysis, to a 29 cM region on chromosome 14q24.3-q32 in five Japanese families. A second disorder, spinocerebellar ataxia type 3 (SCA3), which has clinical symptoms similar to MJD, has also been linked to the same region of chromosome 14q in two French families. In order to narrow down the region of chromosome 14 which contains the MJD locus and to determine if this region overlaps with the predisposing locus for SCA3, we have performed genetic linkage analysis in seven MJD families, six of Portuguese/Azorean origin and one of Brazilian origin, using nine microsatellite markers mapped to 14q24.3-q32. Our results localise the MJD locus in these families to an 11 cM interval flanked by the markers D14S68 and AFM343vf1. In addition we show that this 11 cM interval maps within the 15 cM interval containing the SCA3 locus, suggesting that these diseases are allelic.</description><subject>Adult</subject><subject>Aged</subject><subject>Alleles</subject><subject>Biological and medical sciences</subject><subject>Brazil</subject><subject>California</subject><subject>cerebellar ataxia</subject><subject>chromosome 14</subject><subject>Chromosome Mapping</subject><subject>Chromosomes, Human, Pair 14</subject><subject>Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases</subject><subject>Female</subject><subject>gene mapping</subject><subject>Genetic Linkage</subject><subject>Haplotypes</subject><subject>Humans</subject><subject>loci</subject><subject>Machado Joseph disease</subject><subject>Machado-Joseph Disease - genetics</subject><subject>Male</subject><subject>man</subject><subject>Medical sciences</subject><subject>Middle Aged</subject><subject>Neurology</subject><subject>New England</subject><subject>Pedigree</subject><subject>Portugal - ethnology</subject><subject>Spinocerebellar Degenerations - genetics</subject><issn>0022-2593</issn><issn>1468-6244</issn><issn>1468-6244</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1995</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><sourceid>BENPR</sourceid><recordid>eNqFkUuP0zAUhSMEGsrAijWSJRAblOK3nc1IqMN7BhYMiJ1149y0KUkc7ATN_HtStSqPBaws-Xw6OueeLHvI6JIxoZ9vu_VS8CVbcnUrWzCpba65lLezBaWc51wV4m52L6UtpUwYpk-yE2MLozlfZNtL8BuoAnkXEg4bUjUJISHpYEhkDGTcIEnQIYm4bkJPQk38JoYupDB_Mkkg7Zmh6YPHiCW2LUQCI1w3QMabAYkgbfBTup_dqaFN-ODwnmafX728Wr3JLz6-frt6cZGXSogxN2XNFOOyLAyVzFtdWlp5pUpWgtbC-wq1pEx5DV4rDaX1wNFKtDVKLCtxmp3tfYep7LDy2I8RWjfEpoN44wI07k-lbzZuHX44RhVlRs4GTw8GMXyfMI2ua5Lf9eoxTMkZw2yhOP8vyLRVojB2Bh__BW7DFPv5Co4ZQ5UVRcFm6tme8jGkFLE-ZmbU7ZZ289JOcMccVzP96PeaR_Yw7aw_OeiQPLR1hN436YgJSbW1u2j5HmvSiNdHGeI3p40wyn34snJfxfur8_Pi0n361bnstv_M9xPQOM1O</recordid><startdate>199501</startdate><enddate>199501</enddate><creator>Twist, E C</creator><creator>Casaubon, L K</creator><creator>Ruttledge, M H</creator><creator>Rao, V S</creator><creator>Macleod, P M</creator><creator>Radvany, J</creator><creator>Zhao, Z</creator><creator>Rosenberg, R N</creator><creator>Farrer, L A</creator><creator>Rouleau, G A</creator><general>BMJ Publishing Group Ltd</general><general>BMJ</general><general>BMJ Publishing Group LTD</general><scope>BSCLL</scope><scope>IQODW</scope><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>88A</scope><scope>88E</scope><scope>88I</scope><scope>8AF</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>BTHHO</scope><scope>CCPQU</scope><scope>DWQXO</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>M2P</scope><scope>M7P</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>PRINS</scope><scope>Q9U</scope><scope>7T3</scope><scope>7TK</scope><scope>8FD</scope><scope>FR3</scope><scope>P64</scope><scope>7X8</scope><scope>5PM</scope></search><sort><creationdate>199501</creationdate><title>Machado Joseph disease maps to the same region of chromosome 14 as the spinocerebellar ataxia type 3 locus</title><author>Twist, E C ; Casaubon, L K ; Ruttledge, M H ; Rao, V S ; Macleod, P M ; Radvany, J ; Zhao, Z ; Rosenberg, R N ; Farrer, L A ; Rouleau, G A</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-b533t-7bf15124b97041c86b80dc55b1ba663ccde64015c6ac656ab8ca2e84e8fe4ebd3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>1995</creationdate><topic>Adult</topic><topic>Aged</topic><topic>Alleles</topic><topic>Biological and medical sciences</topic><topic>Brazil</topic><topic>California</topic><topic>cerebellar ataxia</topic><topic>chromosome 14</topic><topic>Chromosome Mapping</topic><topic>Chromosomes, Human, Pair 14</topic><topic>Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases</topic><topic>Female</topic><topic>gene mapping</topic><topic>Genetic Linkage</topic><topic>Haplotypes</topic><topic>Humans</topic><topic>loci</topic><topic>Machado Joseph disease</topic><topic>Machado-Joseph Disease - genetics</topic><topic>Male</topic><topic>man</topic><topic>Medical sciences</topic><topic>Middle Aged</topic><topic>Neurology</topic><topic>New England</topic><topic>Pedigree</topic><topic>Portugal - ethnology</topic><topic>Spinocerebellar Degenerations - genetics</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Twist, E C</creatorcontrib><creatorcontrib>Casaubon, L K</creatorcontrib><creatorcontrib>Ruttledge, M H</creatorcontrib><creatorcontrib>Rao, V S</creatorcontrib><creatorcontrib>Macleod, P M</creatorcontrib><creatorcontrib>Radvany, J</creatorcontrib><creatorcontrib>Zhao, Z</creatorcontrib><creatorcontrib>Rosenberg, R N</creatorcontrib><creatorcontrib>Farrer, L A</creatorcontrib><creatorcontrib>Rouleau, G A</creatorcontrib><collection>Istex</collection><collection>Pascal-Francis</collection><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>Biology Database (Alumni Edition)</collection><collection>Medical Database (Alumni Edition)</collection><collection>Science Database (Alumni Edition)</collection><collection>STEM 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>BMJ Journals</collection><collection>ProQuest One Community College</collection><collection>ProQuest Central Korea</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>Science Database</collection><collection>Biological Science Database</collection><collection>ProQuest One Academic Eastern Edition (DO NOT USE)</collection><collection>ProQuest One Academic</collection><collection>ProQuest One Academic UKI Edition</collection><collection>ProQuest Central China</collection><collection>ProQuest Central Basic</collection><collection>Human Genome Abstracts</collection><collection>Neurosciences Abstracts</collection><collection>Technology Research Database</collection><collection>Engineering Research Database</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>MEDLINE - Academic</collection><collection>PubMed Central (Full Participant titles)</collection><jtitle>Journal of medical genetics</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Twist, E C</au><au>Casaubon, L K</au><au>Ruttledge, M H</au><au>Rao, V S</au><au>Macleod, P M</au><au>Radvany, J</au><au>Zhao, Z</au><au>Rosenberg, R N</au><au>Farrer, L A</au><au>Rouleau, G A</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Machado Joseph disease maps to the same region of chromosome 14 as the spinocerebellar ataxia type 3 locus</atitle><jtitle>Journal of medical genetics</jtitle><addtitle>J Med Genet</addtitle><date>1995-01</date><risdate>1995</risdate><volume>32</volume><issue>1</issue><spage>25</spage><epage>31</epage><pages>25-31</pages><issn>0022-2593</issn><issn>1468-6244</issn><eissn>1468-6244</eissn><coden>JMDGAE</coden><abstract>Machado Joseph disease (MJD) is an autosomal dominantly inherited neuro-degenerative disorder primarily affecting the motor system. It can be divided into three phenotypes based on the variable combination of a range of clinical symptoms including pyramidal and extra-pyramidal features, cerebellar deficits, and distal muscle atrophy. MJD is thought to be caused by mutation of a single gene which has recently been mapped, using genetic linkage analysis, to a 29 cM region on chromosome 14q24.3-q32 in five Japanese families. A second disorder, spinocerebellar ataxia type 3 (SCA3), which has clinical symptoms similar to MJD, has also been linked to the same region of chromosome 14q in two French families. In order to narrow down the region of chromosome 14 which contains the MJD locus and to determine if this region overlaps with the predisposing locus for SCA3, we have performed genetic linkage analysis in seven MJD families, six of Portuguese/Azorean origin and one of Brazilian origin, using nine microsatellite markers mapped to 14q24.3-q32. Our results localise the MJD locus in these families to an 11 cM interval flanked by the markers D14S68 and AFM343vf1. In addition we show that this 11 cM interval maps within the 15 cM interval containing the SCA3 locus, suggesting that these diseases are allelic.</abstract><cop>London</cop><pub>BMJ Publishing Group Ltd</pub><pmid>7897622</pmid><doi>10.1136/jmg.32.1.25</doi><tpages>7</tpages><oa>free_for_read</oa></addata></record> |
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| ispartof | Journal of medical genetics, 1995-01, Vol.32 (1), p.25-31 |
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| subjects | Adult Aged Alleles Biological and medical sciences Brazil California cerebellar ataxia chromosome 14 Chromosome Mapping Chromosomes, Human, Pair 14 Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases Female gene mapping Genetic Linkage Haplotypes Humans loci Machado Joseph disease Machado-Joseph Disease - genetics Male man Medical sciences Middle Aged Neurology New England Pedigree Portugal - ethnology Spinocerebellar Degenerations - genetics |
| title | Machado Joseph disease maps to the same region of chromosome 14 as the spinocerebellar ataxia type 3 locus |
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