Joseph's disease: Clinical and pathological studies in a Japanese family
Joseph's disease is a hereditary ataxia found among descendants of Portuguese from the Azores Islands. We describe the clinical and pathological features of 4 members of a Japanese family who were diagnosed as having Joseph's disease. The illness began with cerebellar ataxia between the ag...
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| Veröffentlicht in: | Annals of neurology 1986-02, Vol.19 (2), p.152-157 |
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| container_title | Annals of neurology |
| container_volume | 19 |
| creator | Yuasa, Tatsuhiko Ohama, Eisaku Harayama, Hiromi Yamada, Mitsunori Kawase, Yasuhiro Wakabayashi, Masatoshi Atsumi, Tetsushi Miyatake, Tadashi |
| description | Joseph's disease is a hereditary ataxia found among descendants of Portuguese from the Azores Islands. We describe the clinical and pathological features of 4 members of a Japanese family who were diagnosed as having Joseph's disease. The illness began with cerebellar ataxia between the ages of 18 and 45 years. Nystagmus, dysarthria, and pyramidal signs were early manifestations. External ophthalmoplegia, dystonia and/or athetotic movements, and muscular atrophy appeared in the late stages. Neuropathological findings in one patient revealed degeneration of the dentatorubral and pallidoluysian systems, substantia nigra, pontocerebellar system, Clarke's column and spinocerebellar tracts, and anterior horn cells, as well as the cranial nuclei in the brainstem. Neurons in the inferior olivary nuclei, Purkinje's and granule cells, the cerebral cortex, thalamus, and striatum were spared. Involvement of the dentatorubral and pallidoluysian systems seems to be a characteristic feature of this disease in Japan. |
| doi_str_mv | 10.1002/ana.410190207 |
| format | Article |
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We describe the clinical and pathological features of 4 members of a Japanese family who were diagnosed as having Joseph's disease. The illness began with cerebellar ataxia between the ages of 18 and 45 years. Nystagmus, dysarthria, and pyramidal signs were early manifestations. External ophthalmoplegia, dystonia and/or athetotic movements, and muscular atrophy appeared in the late stages. Neuropathological findings in one patient revealed degeneration of the dentatorubral and pallidoluysian systems, substantia nigra, pontocerebellar system, Clarke's column and spinocerebellar tracts, and anterior horn cells, as well as the cranial nuclei in the brainstem. Neurons in the inferior olivary nuclei, Purkinje's and granule cells, the cerebral cortex, thalamus, and striatum were spared. Involvement of the dentatorubral and pallidoluysian systems seems to be a characteristic feature of this disease in Japan.</description><identifier>ISSN: 0364-5134</identifier><identifier>EISSN: 1531-8249</identifier><identifier>DOI: 10.1002/ana.410190207</identifier><identifier>PMID: 3963757</identifier><identifier>CODEN: ANNED3</identifier><language>eng</language><publisher>Hoboken: Wiley Subscription Services, Inc., A Wiley Company</publisher><subject>Adolescent ; Biological and medical sciences ; Cerebellar Ataxia - epidemiology ; Cerebellar Ataxia - genetics ; Cerebellar Ataxia - pathology ; Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases ; Female ; Genes, Dominant ; Humans ; Japan ; Male ; Medical sciences ; Middle Aged ; Muscle Spasticity - genetics ; Muscle Spasticity - pathology ; Nervous System - pathology ; Neurology ; Pedigree ; Syndrome</subject><ispartof>Annals of neurology, 1986-02, Vol.19 (2), p.152-157</ispartof><rights>Copyright © 1986 American Neurological Association</rights><rights>1986 INIST-CNRS</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c4697-a4ded779cc2fbecbf5b05ed7222f85a151eaf722e5d633f25a1a11588507359d3</citedby><cites>FETCH-LOGICAL-c4697-a4ded779cc2fbecbf5b05ed7222f85a151eaf722e5d633f25a1a11588507359d3</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.410190207$$EPDF$$P50$$Gwiley$$H</linktopdf><linktohtml>$$Uhttps://onlinelibrary.wiley.com/doi/full/10.1002%2Fana.410190207$$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=8691360$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/3963757$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Yuasa, Tatsuhiko</creatorcontrib><creatorcontrib>Ohama, Eisaku</creatorcontrib><creatorcontrib>Harayama, Hiromi</creatorcontrib><creatorcontrib>Yamada, Mitsunori</creatorcontrib><creatorcontrib>Kawase, Yasuhiro</creatorcontrib><creatorcontrib>Wakabayashi, Masatoshi</creatorcontrib><creatorcontrib>Atsumi, Tetsushi</creatorcontrib><creatorcontrib>Miyatake, Tadashi</creatorcontrib><title>Joseph's disease: Clinical and pathological studies in a Japanese family</title><title>Annals of neurology</title><addtitle>Ann Neurol</addtitle><description>Joseph's disease is a hereditary ataxia found among descendants of Portuguese from the Azores Islands. We describe the clinical and pathological features of 4 members of a Japanese family who were diagnosed as having Joseph's disease. The illness began with cerebellar ataxia between the ages of 18 and 45 years. Nystagmus, dysarthria, and pyramidal signs were early manifestations. External ophthalmoplegia, dystonia and/or athetotic movements, and muscular atrophy appeared in the late stages. Neuropathological findings in one patient revealed degeneration of the dentatorubral and pallidoluysian systems, substantia nigra, pontocerebellar system, Clarke's column and spinocerebellar tracts, and anterior horn cells, as well as the cranial nuclei in the brainstem. Neurons in the inferior olivary nuclei, Purkinje's and granule cells, the cerebral cortex, thalamus, and striatum were spared. Involvement of the dentatorubral and pallidoluysian systems seems to be a characteristic feature of this disease in Japan.</description><subject>Adolescent</subject><subject>Biological and medical sciences</subject><subject>Cerebellar Ataxia - epidemiology</subject><subject>Cerebellar Ataxia - genetics</subject><subject>Cerebellar Ataxia - pathology</subject><subject>Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases</subject><subject>Female</subject><subject>Genes, Dominant</subject><subject>Humans</subject><subject>Japan</subject><subject>Male</subject><subject>Medical sciences</subject><subject>Middle Aged</subject><subject>Muscle Spasticity - genetics</subject><subject>Muscle Spasticity - pathology</subject><subject>Nervous System - pathology</subject><subject>Neurology</subject><subject>Pedigree</subject><subject>Syndrome</subject><issn>0364-5134</issn><issn>1531-8249</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1986</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNp9kM9P2zAUx61pqOtgxx0n5TCxU8COfyW7lYpSUIELiKP1mjyv3tIk5LUa_e8xa1TtxMny9338_NWHsa-CnwnOs3No4EwJLgqecfuBjYWWIs0zVXxkYy6NSrWQ6hP7TPSbc14YwUdsJAsjrbZjNr9pCbvVD0qqQAiEP5NpHZpQQp1AUyUdbFZt3f76F9BmWwWkJDQJJDfQQYOEiYd1qHcn7MhDTfhlOI_Z4-zyYTpPF_dX19PJIi2VKWwKqsLK2qIsM7_Ecun1kuuYZFnmcw1CCwQfb6grI6XPYgRC6DzX3EpdVPKYne73dn37vEXauHWgEus6lmm35Kyxucq1imC6B8u-JerRu64Pa-h3TnD3Zs5Fc-5gLvLfhsXb5RqrAz2oivPvwxwoyvA9NGWgA5abQkjDI2b32N9Q4-79P93kbvJ_gaFwoA2-HF5C_8cZGyu4p7srdyvV9GG2uHAX8hXXY5Rd</recordid><startdate>198602</startdate><enddate>198602</enddate><creator>Yuasa, Tatsuhiko</creator><creator>Ohama, Eisaku</creator><creator>Harayama, Hiromi</creator><creator>Yamada, Mitsunori</creator><creator>Kawase, Yasuhiro</creator><creator>Wakabayashi, Masatoshi</creator><creator>Atsumi, Tetsushi</creator><creator>Miyatake, Tadashi</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>198602</creationdate><title>Joseph's disease: Clinical and pathological studies in a Japanese family</title><author>Yuasa, Tatsuhiko ; Ohama, Eisaku ; Harayama, Hiromi ; Yamada, Mitsunori ; Kawase, Yasuhiro ; Wakabayashi, Masatoshi ; Atsumi, Tetsushi ; Miyatake, Tadashi</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c4697-a4ded779cc2fbecbf5b05ed7222f85a151eaf722e5d633f25a1a11588507359d3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>1986</creationdate><topic>Adolescent</topic><topic>Biological and medical sciences</topic><topic>Cerebellar Ataxia - epidemiology</topic><topic>Cerebellar Ataxia - genetics</topic><topic>Cerebellar Ataxia - pathology</topic><topic>Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases</topic><topic>Female</topic><topic>Genes, Dominant</topic><topic>Humans</topic><topic>Japan</topic><topic>Male</topic><topic>Medical sciences</topic><topic>Middle Aged</topic><topic>Muscle Spasticity - genetics</topic><topic>Muscle Spasticity - pathology</topic><topic>Nervous System - pathology</topic><topic>Neurology</topic><topic>Pedigree</topic><topic>Syndrome</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Yuasa, Tatsuhiko</creatorcontrib><creatorcontrib>Ohama, Eisaku</creatorcontrib><creatorcontrib>Harayama, Hiromi</creatorcontrib><creatorcontrib>Yamada, Mitsunori</creatorcontrib><creatorcontrib>Kawase, Yasuhiro</creatorcontrib><creatorcontrib>Wakabayashi, Masatoshi</creatorcontrib><creatorcontrib>Atsumi, Tetsushi</creatorcontrib><creatorcontrib>Miyatake, Tadashi</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>MEDLINE - Academic</collection><jtitle>Annals of neurology</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Yuasa, Tatsuhiko</au><au>Ohama, Eisaku</au><au>Harayama, Hiromi</au><au>Yamada, Mitsunori</au><au>Kawase, Yasuhiro</au><au>Wakabayashi, Masatoshi</au><au>Atsumi, Tetsushi</au><au>Miyatake, Tadashi</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Joseph's disease: Clinical and pathological studies in a Japanese family</atitle><jtitle>Annals of neurology</jtitle><addtitle>Ann Neurol</addtitle><date>1986-02</date><risdate>1986</risdate><volume>19</volume><issue>2</issue><spage>152</spage><epage>157</epage><pages>152-157</pages><issn>0364-5134</issn><eissn>1531-8249</eissn><coden>ANNED3</coden><abstract>Joseph's disease is a hereditary ataxia found among descendants of Portuguese from the Azores Islands. We describe the clinical and pathological features of 4 members of a Japanese family who were diagnosed as having Joseph's disease. The illness began with cerebellar ataxia between the ages of 18 and 45 years. Nystagmus, dysarthria, and pyramidal signs were early manifestations. External ophthalmoplegia, dystonia and/or athetotic movements, and muscular atrophy appeared in the late stages. Neuropathological findings in one patient revealed degeneration of the dentatorubral and pallidoluysian systems, substantia nigra, pontocerebellar system, Clarke's column and spinocerebellar tracts, and anterior horn cells, as well as the cranial nuclei in the brainstem. Neurons in the inferior olivary nuclei, Purkinje's and granule cells, the cerebral cortex, thalamus, and striatum were spared. Involvement of the dentatorubral and pallidoluysian systems seems to be a characteristic feature of this disease in Japan.</abstract><cop>Hoboken</cop><pub>Wiley Subscription Services, Inc., A Wiley Company</pub><pmid>3963757</pmid><doi>10.1002/ana.410190207</doi><tpages>6</tpages></addata></record> |
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| ispartof | Annals of neurology, 1986-02, Vol.19 (2), p.152-157 |
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| subjects | Adolescent Biological and medical sciences Cerebellar Ataxia - epidemiology Cerebellar Ataxia - genetics Cerebellar Ataxia - pathology Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases Female Genes, Dominant Humans Japan Male Medical sciences Middle Aged Muscle Spasticity - genetics Muscle Spasticity - pathology Nervous System - pathology Neurology Pedigree Syndrome |
| title | Joseph's disease: Clinical and pathological studies in a Japanese family |
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