Choreo-acanthocytosis like phenotype without acanthocytes : clinicopathological case report : a contribution to the knowledge of the functional pathology of the caudate nucleus
Detailed clinical and neuropathological findings in two unrelated patients with a chorea-acanthocytosis-like phenotype (CA) are reported. One case met all the diagnostic criteria of CA and had a deceased brother with the same disease. The second case had a virtually identical phenotype to the former...
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| Veröffentlicht in: | Acta neuropathologica 1993-11, Vol.86 (6), p.651-658 |
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| container_title | Acta neuropathologica |
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| creator | MALANDRINI, A FABRIZI, G. M PALMERI, S CIACCI, G SALVADORI, C BERTI, G BUCALOSSI, A FEDERICO, A GUAZZI, G. C |
| description | Detailed clinical and neuropathological findings in two unrelated patients with a chorea-acanthocytosis-like phenotype (CA) are reported. One case met all the diagnostic criteria of CA and had a deceased brother with the same disease. The second case had a virtually identical phenotype to the former but without acanthocytes. These findings suggest that both patients are affected by the same disease and that acanthocytes are not essential to the diagnosis. Neuropathological autopsy studies on the brain of the second case showed selective atrophy of the caudate nucleus that seemed to correspond to the movement disorder and behavioural abnormalities prominent in this patient. In both subjects, morphometric and ultrastructural examination of the peripheral nerve showed loss of myelinated fibres, more accentuated distally, and cytoskeletal changes in the axoplasm. These findings support the hypothesis that peripheral neuropathy in CA is caused by distal axonopathy. |
| doi_str_mv | 10.1007/BF00294306 |
| format | Article |
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In both subjects, morphometric and ultrastructural examination of the peripheral nerve showed loss of myelinated fibres, more accentuated distally, and cytoskeletal changes in the axoplasm. These findings support the hypothesis that peripheral neuropathy in CA is caused by distal axonopathy.</description><identifier>ISSN: 0001-6322</identifier><identifier>EISSN: 1432-0533</identifier><identifier>DOI: 10.1007/BF00294306</identifier><identifier>PMID: 8310821</identifier><identifier>CODEN: ANPTAL</identifier><language>eng</language><publisher>Berlin: Springer</publisher><subject>Acanthocytes - pathology ; Adult ; Athetosis - pathology ; Autopsy ; Biological and medical sciences ; Caudate Nucleus - pathology ; Chorea - pathology ; Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases ; Humans ; Magnetic Resonance Imaging ; Male ; Medical sciences ; Microscopy, Electron ; Muscles - pathology ; Nerve Fibers - pathology ; Nerve Fibers - ultrastructure ; Neurology ; Phenotype ; Sciatic Nerve - pathology ; Sciatic Nerve - ultrastructure ; Sural Nerve - pathology ; Sural Nerve - ultrastructure ; Syndrome</subject><ispartof>Acta neuropathologica, 1993-11, Vol.86 (6), p.651-658</ispartof><rights>1994 INIST-CNRS</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><cites>FETCH-LOGICAL-c301t-75292055d8e57dfbffb09c948c0cae3550e54fb010338cdd8489c97d7ce88a793</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>315,781,785,27929,27930</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=3827008$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/8310821$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>MALANDRINI, A</creatorcontrib><creatorcontrib>FABRIZI, G. M</creatorcontrib><creatorcontrib>PALMERI, S</creatorcontrib><creatorcontrib>CIACCI, G</creatorcontrib><creatorcontrib>SALVADORI, C</creatorcontrib><creatorcontrib>BERTI, G</creatorcontrib><creatorcontrib>BUCALOSSI, A</creatorcontrib><creatorcontrib>FEDERICO, A</creatorcontrib><creatorcontrib>GUAZZI, G. C</creatorcontrib><title>Choreo-acanthocytosis like phenotype without acanthocytes : clinicopathological case report : a contribution to the knowledge of the functional pathology of the caudate nucleus</title><title>Acta neuropathologica</title><addtitle>Acta Neuropathol</addtitle><description>Detailed clinical and neuropathological findings in two unrelated patients with a chorea-acanthocytosis-like phenotype (CA) are reported. One case met all the diagnostic criteria of CA and had a deceased brother with the same disease. The second case had a virtually identical phenotype to the former but without acanthocytes. These findings suggest that both patients are affected by the same disease and that acanthocytes are not essential to the diagnosis. Neuropathological autopsy studies on the brain of the second case showed selective atrophy of the caudate nucleus that seemed to correspond to the movement disorder and behavioural abnormalities prominent in this patient. In both subjects, morphometric and ultrastructural examination of the peripheral nerve showed loss of myelinated fibres, more accentuated distally, and cytoskeletal changes in the axoplasm. These findings support the hypothesis that peripheral neuropathy in CA is caused by distal axonopathy.</description><subject>Acanthocytes - pathology</subject><subject>Adult</subject><subject>Athetosis - pathology</subject><subject>Autopsy</subject><subject>Biological and medical sciences</subject><subject>Caudate Nucleus - pathology</subject><subject>Chorea - pathology</subject><subject>Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases</subject><subject>Humans</subject><subject>Magnetic Resonance Imaging</subject><subject>Male</subject><subject>Medical sciences</subject><subject>Microscopy, Electron</subject><subject>Muscles - pathology</subject><subject>Nerve Fibers - pathology</subject><subject>Nerve Fibers - ultrastructure</subject><subject>Neurology</subject><subject>Phenotype</subject><subject>Sciatic Nerve - pathology</subject><subject>Sciatic Nerve - ultrastructure</subject><subject>Sural Nerve - pathology</subject><subject>Sural Nerve - ultrastructure</subject><subject>Syndrome</subject><issn>0001-6322</issn><issn>1432-0533</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1993</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqFkU9v1DAQxS0EKtvChTuSD4gDUmBsxxuHG6woIFXiAufIO5l0TbN28B9V-634iLjttj1yGvm93zyN_Bh7JeC9AOg-fD4HkH2rYP2ErUSrZANaqadsBQCiWSspn7PTlH7Xl-xafcJOjBJgpFixv5tdiBQai9bnXcBDDsklPrsr4suOfMiHhfi1q17J_JGixD9ynJ13GBZbtTlcOrQzR5uIR1pCzJWwHIPP0W1LdsHzHHjeEb_y4Xqm8ZJ4mG6FqXi8Aer-fdjh3kNbRpuJ-4IzlfSCPZvsnOjlcZ6xX-dffm6-NRc_vn7ffLpoUIHITadlL0Hr0ZDuxmk7TVvosW8NAlpSWgPptmoClDI4jqY11e7GDskY2_XqjL29y11i-FMo5WHvEtI8W0-hpKFbSwVG6_-CYm3qJUJV8N0diDGkFGkaluj2Nh4GAcNNj8NjjxV-fUwt2z2ND-ixuOq_Ofo21W-fovXo0gOmjOwAjPoH-Auovw</recordid><startdate>19931101</startdate><enddate>19931101</enddate><creator>MALANDRINI, A</creator><creator>FABRIZI, G. M</creator><creator>PALMERI, S</creator><creator>CIACCI, G</creator><creator>SALVADORI, C</creator><creator>BERTI, G</creator><creator>BUCALOSSI, A</creator><creator>FEDERICO, A</creator><creator>GUAZZI, G. C</creator><general>Springer</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>7TK</scope><scope>7X8</scope></search><sort><creationdate>19931101</creationdate><title>Choreo-acanthocytosis like phenotype without acanthocytes : clinicopathological case report : a contribution to the knowledge of the functional pathology of the caudate nucleus</title><author>MALANDRINI, A ; FABRIZI, G. M ; PALMERI, S ; CIACCI, G ; SALVADORI, C ; BERTI, G ; BUCALOSSI, A ; FEDERICO, A ; GUAZZI, G. 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Prion diseases</topic><topic>Humans</topic><topic>Magnetic Resonance Imaging</topic><topic>Male</topic><topic>Medical sciences</topic><topic>Microscopy, Electron</topic><topic>Muscles - pathology</topic><topic>Nerve Fibers - pathology</topic><topic>Nerve Fibers - ultrastructure</topic><topic>Neurology</topic><topic>Phenotype</topic><topic>Sciatic Nerve - pathology</topic><topic>Sciatic Nerve - ultrastructure</topic><topic>Sural Nerve - pathology</topic><topic>Sural Nerve - ultrastructure</topic><topic>Syndrome</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>MALANDRINI, A</creatorcontrib><creatorcontrib>FABRIZI, G. M</creatorcontrib><creatorcontrib>PALMERI, S</creatorcontrib><creatorcontrib>CIACCI, G</creatorcontrib><creatorcontrib>SALVADORI, C</creatorcontrib><creatorcontrib>BERTI, G</creatorcontrib><creatorcontrib>BUCALOSSI, A</creatorcontrib><creatorcontrib>FEDERICO, A</creatorcontrib><creatorcontrib>GUAZZI, G. 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C</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Choreo-acanthocytosis like phenotype without acanthocytes : clinicopathological case report : a contribution to the knowledge of the functional pathology of the caudate nucleus</atitle><jtitle>Acta neuropathologica</jtitle><addtitle>Acta Neuropathol</addtitle><date>1993-11-01</date><risdate>1993</risdate><volume>86</volume><issue>6</issue><spage>651</spage><epage>658</epage><pages>651-658</pages><issn>0001-6322</issn><eissn>1432-0533</eissn><coden>ANPTAL</coden><abstract>Detailed clinical and neuropathological findings in two unrelated patients with a chorea-acanthocytosis-like phenotype (CA) are reported. One case met all the diagnostic criteria of CA and had a deceased brother with the same disease. The second case had a virtually identical phenotype to the former but without acanthocytes. These findings suggest that both patients are affected by the same disease and that acanthocytes are not essential to the diagnosis. Neuropathological autopsy studies on the brain of the second case showed selective atrophy of the caudate nucleus that seemed to correspond to the movement disorder and behavioural abnormalities prominent in this patient. In both subjects, morphometric and ultrastructural examination of the peripheral nerve showed loss of myelinated fibres, more accentuated distally, and cytoskeletal changes in the axoplasm. These findings support the hypothesis that peripheral neuropathy in CA is caused by distal axonopathy.</abstract><cop>Berlin</cop><pub>Springer</pub><pmid>8310821</pmid><doi>10.1007/BF00294306</doi><tpages>8</tpages></addata></record> |
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| subjects | Acanthocytes - pathology Adult Athetosis - pathology Autopsy Biological and medical sciences Caudate Nucleus - pathology Chorea - pathology Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases Humans Magnetic Resonance Imaging Male Medical sciences Microscopy, Electron Muscles - pathology Nerve Fibers - pathology Nerve Fibers - ultrastructure Neurology Phenotype Sciatic Nerve - pathology Sciatic Nerve - ultrastructure Sural Nerve - pathology Sural Nerve - ultrastructure Syndrome |
| title | Choreo-acanthocytosis like phenotype without acanthocytes : clinicopathological case report : a contribution to the knowledge of the functional pathology of the caudate nucleus |
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