Fatal familial insomnia in a new italian kindred
The authors report a new kindred with fatal familial insomnia (FFI)--an inherited prion disease. The propositus had behavioral, sleep, cognitive, and motor impairment associated with thalamic and olivary atrophy. Spongiosis was confined to the parahippocampal gyrus. Protease-resistant prion protein...
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| Veröffentlicht in: | Neurology 1998-11, Vol.51 (5), p.1491-1494 |
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| container_end_page | 1494 |
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| container_issue | 5 |
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| container_title | Neurology |
| container_volume | 51 |
| creator | PADOVANI, A D'ALESSANDRO, M GAMBETTI, P PARCHI, P CORTELLI, P ANZOLA, G. P MONTAGNA, P VIGNOLO, L. A PETRAROLI, R POCCHIARI, M LUGARESI, E |
| description | The authors report a new kindred with fatal familial insomnia (FFI)--an inherited prion disease. The propositus had behavioral, sleep, cognitive, and motor impairment associated with thalamic and olivary atrophy. Spongiosis was confined to the parahippocampal gyrus. Protease-resistant prion protein (PrP(res)) was present with widespread distribution. The propositus fits the histopathology of FFI with similar clinical duration and confirms the role of disease duration in determining histopathology and PrP(res) distribution in FFI. |
| doi_str_mv | 10.1212/WNL.51.5.1491 |
| format | Article |
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The propositus fits the histopathology of FFI with similar clinical duration and confirms the role of disease duration in determining histopathology and PrP(res) distribution in FFI.</description><identifier>ISSN: 0028-3878</identifier><identifier>EISSN: 1526-632X</identifier><identifier>DOI: 10.1212/WNL.51.5.1491</identifier><identifier>PMID: 9818894</identifier><identifier>CODEN: NEURAI</identifier><language>eng</language><publisher>Hagerstown, MD: Lippincott Williams & Wilkins</publisher><subject>Age of Onset ; Biological and medical sciences ; Brain - pathology ; Codon ; Cognition Disorders ; Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases ; Female ; Heterozygote ; Homozygote ; Humans ; Italy ; Male ; Medical sciences ; Middle Aged ; Neurology ; Pedigree ; Point Mutation ; Prion Diseases - genetics ; Prion Diseases - pathology ; Prion Diseases - physiopathology ; Prion Diseases - psychology ; PrPSc Proteins - analysis ; Sleep Wake Disorders</subject><ispartof>Neurology, 1998-11, Vol.51 (5), p.1491-1494</ispartof><rights>1999 INIST-CNRS</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c317t-bb68a5a670c03df04376383fb38075feb55b25e6ef596647566cbc2a307b4fe53</citedby><cites>FETCH-LOGICAL-c317t-bb68a5a670c03df04376383fb38075feb55b25e6ef596647566cbc2a307b4fe53</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,776,780,27901,27902</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=1590572$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/9818894$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>PADOVANI, A</creatorcontrib><creatorcontrib>D'ALESSANDRO, M</creatorcontrib><creatorcontrib>GAMBETTI, P</creatorcontrib><creatorcontrib>PARCHI, P</creatorcontrib><creatorcontrib>CORTELLI, P</creatorcontrib><creatorcontrib>ANZOLA, G. 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The propositus fits the histopathology of FFI with similar clinical duration and confirms the role of disease duration in determining histopathology and PrP(res) distribution in FFI.</description><subject>Age of Onset</subject><subject>Biological and medical sciences</subject><subject>Brain - pathology</subject><subject>Codon</subject><subject>Cognition Disorders</subject><subject>Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases</subject><subject>Female</subject><subject>Heterozygote</subject><subject>Homozygote</subject><subject>Humans</subject><subject>Italy</subject><subject>Male</subject><subject>Medical sciences</subject><subject>Middle Aged</subject><subject>Neurology</subject><subject>Pedigree</subject><subject>Point Mutation</subject><subject>Prion Diseases - genetics</subject><subject>Prion Diseases - pathology</subject><subject>Prion Diseases - physiopathology</subject><subject>Prion Diseases - psychology</subject><subject>PrPSc Proteins - analysis</subject><subject>Sleep Wake Disorders</subject><issn>0028-3878</issn><issn>1526-632X</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1998</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNpFkEtLAzEURoMotVaXLoVZiLsZb5LJayliVSi6UXQXkkwC0XnUSYv4703poKt74Ry-xUHoHEOFCSbXb0-riuGKVbhW-ADNMSO85JS8H6I5AJEllUIeo5OUPgAyFGqGZkpiKVU9R7A0G9MWwXSxjfmJfRq6Ppr8FKbo_XcRM4-mLz5j34y-OUVHwbTJn013gV6Xdy-3D-Xq-f7x9mZVOorFprSWS8MMF-CANgFqKjiVNFgqQbDgLWOWMM99YIrzWjDOnXXEUBC2Dp7RBbra767H4Wvr00Z3MTnftqb3wzZpAcApV5DFci-6cUhp9EGvx9iZ8Udj0LtCOhfSDGumd4WyfzENb23nmz97SpL55cRNcqYNo-ldTP-jTAEThP4CCVtsIQ</recordid><startdate>19981101</startdate><enddate>19981101</enddate><creator>PADOVANI, A</creator><creator>D'ALESSANDRO, M</creator><creator>GAMBETTI, P</creator><creator>PARCHI, P</creator><creator>CORTELLI, P</creator><creator>ANZOLA, G. 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A</creatorcontrib><creatorcontrib>PETRAROLI, R</creatorcontrib><creatorcontrib>POCCHIARI, M</creatorcontrib><creatorcontrib>LUGARESI, E</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>MEDLINE - Academic</collection><jtitle>Neurology</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>PADOVANI, A</au><au>D'ALESSANDRO, M</au><au>GAMBETTI, P</au><au>PARCHI, P</au><au>CORTELLI, P</au><au>ANZOLA, G. P</au><au>MONTAGNA, P</au><au>VIGNOLO, L. A</au><au>PETRAROLI, R</au><au>POCCHIARI, M</au><au>LUGARESI, E</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Fatal familial insomnia in a new italian kindred</atitle><jtitle>Neurology</jtitle><addtitle>Neurology</addtitle><date>1998-11-01</date><risdate>1998</risdate><volume>51</volume><issue>5</issue><spage>1491</spage><epage>1494</epage><pages>1491-1494</pages><issn>0028-3878</issn><eissn>1526-632X</eissn><coden>NEURAI</coden><abstract>The authors report a new kindred with fatal familial insomnia (FFI)--an inherited prion disease. The propositus had behavioral, sleep, cognitive, and motor impairment associated with thalamic and olivary atrophy. Spongiosis was confined to the parahippocampal gyrus. Protease-resistant prion protein (PrP(res)) was present with widespread distribution. 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| ispartof | Neurology, 1998-11, Vol.51 (5), p.1491-1494 |
| issn | 0028-3878 1526-632X |
| language | eng |
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| source | MEDLINE; Journals@Ovid Complete |
| subjects | Age of Onset Biological and medical sciences Brain - pathology Codon Cognition Disorders Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases Female Heterozygote Homozygote Humans Italy Male Medical sciences Middle Aged Neurology Pedigree Point Mutation Prion Diseases - genetics Prion Diseases - pathology Prion Diseases - physiopathology Prion Diseases - psychology PrPSc Proteins - analysis Sleep Wake Disorders |
| title | Fatal familial insomnia in a new italian kindred |
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