Progressive atrophy of cerebellum and brainstem as a function of age and the size of the expanded CAG repeats in the MJD1 gene in Machado-Joseph disease
Machado‐Joseph disease (MJD) is an autosomal dominat neurodegenerative disease characterized by cerebellar ataxia associated to varying degrees with pyramidal signs, extrapyramidal signs, or peripheral amyotrophy. It is caused by unstable expansion of the CAG repeat in the MJD1 gene on chromosome 14...
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| Veröffentlicht in: | Annals of neurology 1998-03, Vol.43 (3), p.288-296 |
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| container_title | Annals of neurology |
| container_volume | 43 |
| creator | Onodera, Osamu Idezuka, Jiro Igarashi, Shuichi Takiyama, Yoshihisa Endo, Kotaro Takano, Hiroki Oyake, Mutsuo Tanaka, Hajime Inuzuka, Takashi Hayashi, Tsunemi Yuasa, Tatsuhiko Ito, Jusuke Miyatake, Tadashi Tsuji, Shoji |
| description | Machado‐Joseph disease (MJD) is an autosomal dominat neurodegenerative disease characterized by cerebellar ataxia associated to varying degrees with pyramidal signs, extrapyramidal signs, or peripheral amyotrophy. It is caused by unstable expansion of the CAG repeat in the MJD1 gene on chromosome 14q32.1. To determine how the neurodegenerative process in the central nervous system of patients with MJD correlates with the size of expanded CAG repeats in the MJD1 gene and other factors, we performed detailed quantitative analyses of findings of magnetic resonance imaging of the central nervous system of 21 patients with MJD of various ages and with various sizes of expanded CAG repeats. We found that atrophy of the brainstem and cerebellar vermis in MJD patients is closely correlated not only with the size of expanded CAG repeat in the MJD1 gene but also with patient age, which suggests that the neurodegenerative process in MJD is regulated by the size of expanded CAG repeats as well as by the patient age. |
| doi_str_mv | 10.1002/ana.410430305 |
| format | Article |
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It is caused by unstable expansion of the CAG repeat in the MJD1 gene on chromosome 14q32.1. To determine how the neurodegenerative process in the central nervous system of patients with MJD correlates with the size of expanded CAG repeats in the MJD1 gene and other factors, we performed detailed quantitative analyses of findings of magnetic resonance imaging of the central nervous system of 21 patients with MJD of various ages and with various sizes of expanded CAG repeats. We found that atrophy of the brainstem and cerebellar vermis in MJD patients is closely correlated not only with the size of expanded CAG repeat in the MJD1 gene but also with patient age, which suggests that the neurodegenerative process in MJD is regulated by the size of expanded CAG repeats as well as by the patient age.</description><identifier>ISSN: 0364-5134</identifier><identifier>EISSN: 1531-8249</identifier><identifier>DOI: 10.1002/ana.410430305</identifier><identifier>PMID: 9506544</identifier><identifier>CODEN: ANNED3</identifier><language>eng</language><publisher>Hoboken: Wiley Subscription Services, Inc., A Wiley Company</publisher><subject>Adult ; Aged ; Aging - physiology ; Atrophy ; Biological and medical sciences ; Brain Stem - pathology ; Cerebellum - pathology ; Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases ; Female ; Humans ; Machado-Joseph Disease - diagnosis ; Machado-Joseph Disease - genetics ; Magnetic Resonance Imaging ; Male ; Medical sciences ; Middle Aged ; Neurology ; Repetitive Sequences, Nucleic Acid</subject><ispartof>Annals of neurology, 1998-03, Vol.43 (3), p.288-296</ispartof><rights>Copyright © 1998 American Neurological Association</rights><rights>1998 INIST-CNRS</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c4695-d12df99c6f2594f100b234bfd545a2cc19e58f8ccad7d32f7207947a2c47d3553</citedby><cites>FETCH-LOGICAL-c4695-d12df99c6f2594f100b234bfd545a2cc19e58f8ccad7d32f7207947a2c47d3553</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://onlinelibrary.wiley.com/doi/pdf/10.1002%2Fana.410430305$$EPDF$$P50$$Gwiley$$H</linktopdf><linktohtml>$$Uhttps://onlinelibrary.wiley.com/doi/full/10.1002%2Fana.410430305$$EHTML$$P50$$Gwiley$$H</linktohtml><link.rule.ids>314,776,780,1411,27901,27902,45550,45551</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=2203240$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/9506544$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Onodera, Osamu</creatorcontrib><creatorcontrib>Idezuka, Jiro</creatorcontrib><creatorcontrib>Igarashi, Shuichi</creatorcontrib><creatorcontrib>Takiyama, Yoshihisa</creatorcontrib><creatorcontrib>Endo, Kotaro</creatorcontrib><creatorcontrib>Takano, Hiroki</creatorcontrib><creatorcontrib>Oyake, Mutsuo</creatorcontrib><creatorcontrib>Tanaka, Hajime</creatorcontrib><creatorcontrib>Inuzuka, Takashi</creatorcontrib><creatorcontrib>Hayashi, Tsunemi</creatorcontrib><creatorcontrib>Yuasa, Tatsuhiko</creatorcontrib><creatorcontrib>Ito, Jusuke</creatorcontrib><creatorcontrib>Miyatake, Tadashi</creatorcontrib><creatorcontrib>Tsuji, Shoji</creatorcontrib><title>Progressive atrophy of cerebellum and brainstem as a function of age and the size of the expanded CAG repeats in the MJD1 gene in Machado-Joseph disease</title><title>Annals of neurology</title><addtitle>Ann Neurol</addtitle><description>Machado‐Joseph disease (MJD) is an autosomal dominat neurodegenerative disease characterized by cerebellar ataxia associated to varying degrees with pyramidal signs, extrapyramidal signs, or peripheral amyotrophy. It is caused by unstable expansion of the CAG repeat in the MJD1 gene on chromosome 14q32.1. To determine how the neurodegenerative process in the central nervous system of patients with MJD correlates with the size of expanded CAG repeats in the MJD1 gene and other factors, we performed detailed quantitative analyses of findings of magnetic resonance imaging of the central nervous system of 21 patients with MJD of various ages and with various sizes of expanded CAG repeats. We found that atrophy of the brainstem and cerebellar vermis in MJD patients is closely correlated not only with the size of expanded CAG repeat in the MJD1 gene but also with patient age, which suggests that the neurodegenerative process in MJD is regulated by the size of expanded CAG repeats as well as by the patient age.</description><subject>Adult</subject><subject>Aged</subject><subject>Aging - physiology</subject><subject>Atrophy</subject><subject>Biological and medical sciences</subject><subject>Brain Stem - pathology</subject><subject>Cerebellum - pathology</subject><subject>Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases</subject><subject>Female</subject><subject>Humans</subject><subject>Machado-Joseph Disease - diagnosis</subject><subject>Machado-Joseph Disease - genetics</subject><subject>Magnetic Resonance Imaging</subject><subject>Male</subject><subject>Medical sciences</subject><subject>Middle Aged</subject><subject>Neurology</subject><subject>Repetitive Sequences, Nucleic Acid</subject><issn>0364-5134</issn><issn>1531-8249</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1998</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNp9kU2P0zAQhiMEWroLR45IPiBuWfwZ18eqsIVVu3BYhMTFcpxxa0iTrJ2wW34JPxdnG1WcONkz7-OZ8bxZ9orgS4IxfWcac8kJ5gwzLJ5kMyIYyeeUq6fZDLOC54Iw_jw7j_EHxlgVBJ9lZ0rgQnA-y_58Ce02QIz-FyDTh7bbHVDrkIUAJdT1sEemqVAZjG9iDymKyCA3NLb3bTOSZguPSL8DFP1vGHPjHR66lIYKLRcrFKAD00fkm0dtc_2eoC00MCY2xu5M1ebXbYRuhyofwUR4kT1zpo7wcjovsq9XH26XH_P159Wn5WKdW14okVeEVk4pWzgqFHdpIyVlvHSV4MJQa4kCMXdza00lK0adpFgqLpPEUywEu8jeHut2ob0bIPZ676NNPzcNtEPUUklGJR7B_Aja0MYYwOku-L0JB02wHp3QyQl9ciLxr6fCQ7mH6kRPq0_6m0k30ZraBdNYH08YpZhRjhMmj9i9r-Hw_556cbP4d4BpYJ-Mezi9NOGnLiSTQn-7WenvYimvNrdLvWZ_AQ_ZsCc</recordid><startdate>199803</startdate><enddate>199803</enddate><creator>Onodera, Osamu</creator><creator>Idezuka, Jiro</creator><creator>Igarashi, Shuichi</creator><creator>Takiyama, Yoshihisa</creator><creator>Endo, Kotaro</creator><creator>Takano, Hiroki</creator><creator>Oyake, Mutsuo</creator><creator>Tanaka, Hajime</creator><creator>Inuzuka, Takashi</creator><creator>Hayashi, Tsunemi</creator><creator>Yuasa, Tatsuhiko</creator><creator>Ito, Jusuke</creator><creator>Miyatake, Tadashi</creator><creator>Tsuji, Shoji</creator><general>Wiley Subscription Services, Inc., A Wiley Company</general><general>Willey-Liss</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>7X8</scope></search><sort><creationdate>199803</creationdate><title>Progressive atrophy of cerebellum and brainstem as a function of age and the size of the expanded CAG repeats in the MJD1 gene in Machado-Joseph disease</title><author>Onodera, Osamu ; Idezuka, Jiro ; Igarashi, Shuichi ; Takiyama, Yoshihisa ; Endo, Kotaro ; Takano, Hiroki ; Oyake, Mutsuo ; Tanaka, Hajime ; Inuzuka, Takashi ; Hayashi, Tsunemi ; Yuasa, Tatsuhiko ; Ito, Jusuke ; Miyatake, Tadashi ; Tsuji, Shoji</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c4695-d12df99c6f2594f100b234bfd545a2cc19e58f8ccad7d32f7207947a2c47d3553</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>1998</creationdate><topic>Adult</topic><topic>Aged</topic><topic>Aging - physiology</topic><topic>Atrophy</topic><topic>Biological and medical sciences</topic><topic>Brain Stem - pathology</topic><topic>Cerebellum - pathology</topic><topic>Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. 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| fulltext | fulltext |
| identifier | ISSN: 0364-5134 |
| ispartof | Annals of neurology, 1998-03, Vol.43 (3), p.288-296 |
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| source | MEDLINE; Wiley Online Library All Journals |
| subjects | Adult Aged Aging - physiology Atrophy Biological and medical sciences Brain Stem - pathology Cerebellum - pathology Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases Female Humans Machado-Joseph Disease - diagnosis Machado-Joseph Disease - genetics Magnetic Resonance Imaging Male Medical sciences Middle Aged Neurology Repetitive Sequences, Nucleic Acid |
| title | Progressive atrophy of cerebellum and brainstem as a function of age and the size of the expanded CAG repeats in the MJD1 gene in Machado-Joseph disease |
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