The cerebellar and thalamic degeneration in Fukuyama-type congenital muscular dystrophy
We report a male autopsy case of Fukuyama-type congenital muscular dystrophy (FCMD), with unusual neuropathological findings. The patient was a Japanese man aged 26 years at the time of death. He had shown severe psychomotor retardation and muscular dystrophy since early infancy, and was diagnosed a...
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| Veröffentlicht in: | Acta neuropathologica 2000-02, Vol.99 (2), p.209-213 |
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| container_title | Acta neuropathologica |
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| creator | KUMADA, S TSUCHIYA, K TAKAHASHI, M TAKESUE, M SHIOTSU, H NOMURA, Y SEGAWA, M IKEDA, K HAYASHI, M |
| description | We report a male autopsy case of Fukuyama-type congenital muscular dystrophy (FCMD), with unusual neuropathological findings. The patient was a Japanese man aged 26 years at the time of death. He had shown severe psychomotor retardation and muscular dystrophy since early infancy, and was diagnosed as having FCMD at the age of 5 years. He died of respiratory failure. The main neuropathological finding was extensive cerebral and cerebellar cortical dysplasia, characteristic of this disorder. In addition, degeneration of the cerebellar efferent pathway, including the dentate nucleus, superior cerebellar peduncle, and red nucleus, and that of the lateral thalamic nucleus were observed. These findings suggest the possibility that the long survival can clarify the latent neurodegeneration in the cerebellum and thalamus in FCMD, in addition to congenital malformations. The system degeneration should be carefully evaluated in the pathological examination of this disorder. |
| doi_str_mv | 10.1007/PL00007426 |
| format | Article |
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The patient was a Japanese man aged 26 years at the time of death. He had shown severe psychomotor retardation and muscular dystrophy since early infancy, and was diagnosed as having FCMD at the age of 5 years. He died of respiratory failure. The main neuropathological finding was extensive cerebral and cerebellar cortical dysplasia, characteristic of this disorder. In addition, degeneration of the cerebellar efferent pathway, including the dentate nucleus, superior cerebellar peduncle, and red nucleus, and that of the lateral thalamic nucleus were observed. These findings suggest the possibility that the long survival can clarify the latent neurodegeneration in the cerebellum and thalamus in FCMD, in addition to congenital malformations. The system degeneration should be carefully evaluated in the pathological examination of this disorder.</description><identifier>ISSN: 0001-6322</identifier><identifier>EISSN: 1432-0533</identifier><identifier>DOI: 10.1007/PL00007426</identifier><identifier>PMID: 10672329</identifier><identifier>CODEN: ANPTAL</identifier><language>eng</language><publisher>Berlin: Springer</publisher><subject>Adult ; Autopsy ; Biological and medical sciences ; Brain - pathology ; Cerebellum ; Cerebellum - pathology ; Congenital defects ; Congenital diseases ; Dentate nucleus ; Diseases of striated muscles. Neuromuscular diseases ; Dysplasia ; Efferent Pathways - pathology ; Gliosis ; Humans ; Intellectual disabilities ; Male ; Medical sciences ; Muscular Dystrophies - congenital ; Muscular Dystrophies - pathology ; Muscular dystrophy ; Neurodegeneration ; Neurology ; Neuropathology ; Red nucleus ; Superior cerebellar peduncle ; Thalamus ; Thalamus - pathology</subject><ispartof>Acta neuropathologica, 2000-02, Vol.99 (2), p.209-213</ispartof><rights>2000 INIST-CNRS</rights><rights>Springer-Verlag Berlin Heidelberg 2000.</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,780,784,27924,27925</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=1264085$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/10672329$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>KUMADA, S</creatorcontrib><creatorcontrib>TSUCHIYA, K</creatorcontrib><creatorcontrib>TAKAHASHI, M</creatorcontrib><creatorcontrib>TAKESUE, M</creatorcontrib><creatorcontrib>SHIOTSU, H</creatorcontrib><creatorcontrib>NOMURA, Y</creatorcontrib><creatorcontrib>SEGAWA, M</creatorcontrib><creatorcontrib>IKEDA, K</creatorcontrib><creatorcontrib>HAYASHI, M</creatorcontrib><title>The cerebellar and thalamic degeneration in Fukuyama-type congenital muscular dystrophy</title><title>Acta neuropathologica</title><addtitle>Acta Neuropathol</addtitle><description>We report a male autopsy case of Fukuyama-type congenital muscular dystrophy (FCMD), with unusual neuropathological findings. The patient was a Japanese man aged 26 years at the time of death. He had shown severe psychomotor retardation and muscular dystrophy since early infancy, and was diagnosed as having FCMD at the age of 5 years. He died of respiratory failure. The main neuropathological finding was extensive cerebral and cerebellar cortical dysplasia, characteristic of this disorder. In addition, degeneration of the cerebellar efferent pathway, including the dentate nucleus, superior cerebellar peduncle, and red nucleus, and that of the lateral thalamic nucleus were observed. These findings suggest the possibility that the long survival can clarify the latent neurodegeneration in the cerebellum and thalamus in FCMD, in addition to congenital malformations. The system degeneration should be carefully evaluated in the pathological examination of this disorder.</description><subject>Adult</subject><subject>Autopsy</subject><subject>Biological and medical sciences</subject><subject>Brain - pathology</subject><subject>Cerebellum</subject><subject>Cerebellum - pathology</subject><subject>Congenital defects</subject><subject>Congenital diseases</subject><subject>Dentate nucleus</subject><subject>Diseases of striated muscles. Neuromuscular diseases</subject><subject>Dysplasia</subject><subject>Efferent Pathways - pathology</subject><subject>Gliosis</subject><subject>Humans</subject><subject>Intellectual disabilities</subject><subject>Male</subject><subject>Medical sciences</subject><subject>Muscular Dystrophies - congenital</subject><subject>Muscular Dystrophies - pathology</subject><subject>Muscular dystrophy</subject><subject>Neurodegeneration</subject><subject>Neurology</subject><subject>Neuropathology</subject><subject>Red nucleus</subject><subject>Superior cerebellar peduncle</subject><subject>Thalamus</subject><subject>Thalamus - pathology</subject><issn>0001-6322</issn><issn>1432-0533</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2000</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>eNpd0E1LwzAYB_AgipvTix9ACooHoZqXJmmOMpwKAz1MPJY0TVxnm9akOfTbm7HBxFxCkt_z8OQPwCWC9whC_vC-hHHxDLMjMEUZwSmkhByDabxFKSMYT8CZ95t4wjyjp2CCIOOYYDEFn6u1TpR2utRNI10ibZUMa9nItlZJpb-01U4OdWeT2iaL8B1G2cp0GPtY1dn4XA-ySdrgVdiWV6MfXNevx3NwYmTj9cV-n4GPxdNq_pIu355f54_LVGEhhlTITJOSIZzD0lAtiMGZ4DnT0tBMUcEUIYgTKjAXOdXIVMYgRTCFRMmS52QGbnd9e9f9BO2Hoq292v7F6i74gsNcMIZ5hNf_4KYLzsbZCpwhSpkQCEd1t1PKdd47bYre1a10Y4FgsQ27OIQd8dW-ZShbXf2hu3QjuNkD6ZVsjJNW1f7gMMtgTskvoM6FWw</recordid><startdate>20000201</startdate><enddate>20000201</enddate><creator>KUMADA, S</creator><creator>TSUCHIYA, K</creator><creator>TAKAHASHI, M</creator><creator>TAKESUE, M</creator><creator>SHIOTSU, H</creator><creator>NOMURA, Y</creator><creator>SEGAWA, M</creator><creator>IKEDA, K</creator><creator>HAYASHI, M</creator><general>Springer</general><general>Springer Nature B.V</general><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>7TK</scope><scope>7U9</scope><scope>7X7</scope><scope>7XB</scope><scope>88E</scope><scope>88G</scope><scope>8AO</scope><scope>8FI</scope><scope>8FJ</scope><scope>8FK</scope><scope>ABUWG</scope><scope>AFKRA</scope><scope>AZQEC</scope><scope>BENPR</scope><scope>CCPQU</scope><scope>DWQXO</scope><scope>FYUFA</scope><scope>GHDGH</scope><scope>GNUQQ</scope><scope>H94</scope><scope>K9.</scope><scope>M0S</scope><scope>M1P</scope><scope>M2M</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>PRINS</scope><scope>PSYQQ</scope><scope>Q9U</scope><scope>7X8</scope></search><sort><creationdate>20000201</creationdate><title>The cerebellar and thalamic degeneration in Fukuyama-type congenital muscular dystrophy</title><author>KUMADA, S ; TSUCHIYA, K ; TAKAHASHI, M ; TAKESUE, M ; SHIOTSU, H ; NOMURA, Y ; SEGAWA, M ; IKEDA, K ; HAYASHI, M</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c299t-9a4e3b61280bf5e93f249786eaf54c596c331735927985e1fdff1c32503cab783</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2000</creationdate><topic>Adult</topic><topic>Autopsy</topic><topic>Biological and medical sciences</topic><topic>Brain - pathology</topic><topic>Cerebellum</topic><topic>Cerebellum - pathology</topic><topic>Congenital defects</topic><topic>Congenital diseases</topic><topic>Dentate nucleus</topic><topic>Diseases of striated muscles. Neuromuscular diseases</topic><topic>Dysplasia</topic><topic>Efferent Pathways - pathology</topic><topic>Gliosis</topic><topic>Humans</topic><topic>Intellectual disabilities</topic><topic>Male</topic><topic>Medical sciences</topic><topic>Muscular Dystrophies - congenital</topic><topic>Muscular Dystrophies - pathology</topic><topic>Muscular dystrophy</topic><topic>Neurodegeneration</topic><topic>Neurology</topic><topic>Neuropathology</topic><topic>Red nucleus</topic><topic>Superior cerebellar peduncle</topic><topic>Thalamus</topic><topic>Thalamus - pathology</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>KUMADA, S</creatorcontrib><creatorcontrib>TSUCHIYA, K</creatorcontrib><creatorcontrib>TAKAHASHI, M</creatorcontrib><creatorcontrib>TAKESUE, M</creatorcontrib><creatorcontrib>SHIOTSU, H</creatorcontrib><creatorcontrib>NOMURA, Y</creatorcontrib><creatorcontrib>SEGAWA, M</creatorcontrib><creatorcontrib>IKEDA, K</creatorcontrib><creatorcontrib>HAYASHI, M</creatorcontrib><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>Neurosciences Abstracts</collection><collection>Virology and AIDS Abstracts</collection><collection>Health & Medical Collection</collection><collection>ProQuest Central (purchase pre-March 2016)</collection><collection>Medical Database (Alumni Edition)</collection><collection>Psychology Database (Alumni)</collection><collection>ProQuest Pharma 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>ProQuest Central</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>AIDS and Cancer Research Abstracts</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>Health & Medical Collection (Alumni Edition)</collection><collection>Medical Database</collection><collection>Psychology 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 One Psychology</collection><collection>ProQuest Central Basic</collection><collection>MEDLINE - Academic</collection><jtitle>Acta neuropathologica</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>KUMADA, S</au><au>TSUCHIYA, K</au><au>TAKAHASHI, M</au><au>TAKESUE, M</au><au>SHIOTSU, H</au><au>NOMURA, Y</au><au>SEGAWA, M</au><au>IKEDA, K</au><au>HAYASHI, M</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>The cerebellar and thalamic degeneration in Fukuyama-type congenital muscular dystrophy</atitle><jtitle>Acta neuropathologica</jtitle><addtitle>Acta Neuropathol</addtitle><date>2000-02-01</date><risdate>2000</risdate><volume>99</volume><issue>2</issue><spage>209</spage><epage>213</epage><pages>209-213</pages><issn>0001-6322</issn><eissn>1432-0533</eissn><coden>ANPTAL</coden><abstract>We report a male autopsy case of Fukuyama-type congenital muscular dystrophy (FCMD), with unusual neuropathological findings. The patient was a Japanese man aged 26 years at the time of death. He had shown severe psychomotor retardation and muscular dystrophy since early infancy, and was diagnosed as having FCMD at the age of 5 years. He died of respiratory failure. The main neuropathological finding was extensive cerebral and cerebellar cortical dysplasia, characteristic of this disorder. In addition, degeneration of the cerebellar efferent pathway, including the dentate nucleus, superior cerebellar peduncle, and red nucleus, and that of the lateral thalamic nucleus were observed. These findings suggest the possibility that the long survival can clarify the latent neurodegeneration in the cerebellum and thalamus in FCMD, in addition to congenital malformations. The system degeneration should be carefully evaluated in the pathological examination of this disorder.</abstract><cop>Berlin</cop><pub>Springer</pub><pmid>10672329</pmid><doi>10.1007/PL00007426</doi><tpages>5</tpages></addata></record> |
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| subjects | Adult Autopsy Biological and medical sciences Brain - pathology Cerebellum Cerebellum - pathology Congenital defects Congenital diseases Dentate nucleus Diseases of striated muscles. Neuromuscular diseases Dysplasia Efferent Pathways - pathology Gliosis Humans Intellectual disabilities Male Medical sciences Muscular Dystrophies - congenital Muscular Dystrophies - pathology Muscular dystrophy Neurodegeneration Neurology Neuropathology Red nucleus Superior cerebellar peduncle Thalamus Thalamus - pathology |
| title | The cerebellar and thalamic degeneration in Fukuyama-type congenital muscular dystrophy |
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