Hereditary neuropathy with liability to pressure palsies: A clinical, electroneurophysiological and morphological study
Clinical, electroneurographic and myographic studies were performed on 99 patients of 13 families having hereditary neuropathy with liability to pressure palsies (HNPP) and on 116 relatives. Diagnosis was confirmed in all families by a nerve biopsy of the index case. Large focal myelin thickenings (...
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| Veröffentlicht in: | Journal of the neurological sciences 1993-06, Vol.116 (2), p.176-184 |
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| creator | Verhagen, W.I.M. Gabreëls-Festen, A.A.W.M. van Wensen, P.J.M. Joosten, E.M.G. Vingerhoets, H.M. Gabreëls, F.J.M. de Graaf, R. |
| description | Clinical, electroneurographic and myographic studies were performed on 99 patients of 13 families having hereditary neuropathy with liability to pressure palsies (HNPP) and on 116 relatives. Diagnosis was confirmed in all families by a nerve biopsy of the index case. Large focal myelin thickenings (tomacula) were found in nerve biopsies of affected persons, whether or not pressure palsies had occured. By using three electroneurographical parameters it was possible to discriminate between asymptomatic patients and unaffected relatives. Complaints sometimes mentioned in literature as being associated with HNPP such as low back pain, brachialgia and short lasting paraesthesia are not related to HNPP. The hereditary transmission is autosomal dominant with total penetration but variable expression. |
| doi_str_mv | 10.1016/0022-510X(93)90323-Q |
| format | Article |
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Diagnosis was confirmed in all families by a nerve biopsy of the index case. Large focal myelin thickenings (tomacula) were found in nerve biopsies of affected persons, whether or not pressure palsies had occured. By using three electroneurographical parameters it was possible to discriminate between asymptomatic patients and unaffected relatives. Complaints sometimes mentioned in literature as being associated with HNPP such as low back pain, brachialgia and short lasting paraesthesia are not related to HNPP. The hereditary transmission is autosomal dominant with total penetration but variable expression.</description><identifier>ISSN: 0022-510X</identifier><identifier>EISSN: 1878-5883</identifier><identifier>DOI: 10.1016/0022-510X(93)90323-Q</identifier><identifier>PMID: 8393091</identifier><identifier>CODEN: JNSCAG</identifier><language>eng</language><publisher>Shannon: Elsevier B.V</publisher><subject>Adolescent ; Adult ; Aged ; Aged, 80 and over ; Biological and medical sciences ; Child ; Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases ; Electromyography ; Electronmicroscopy ; Electrophysiology ; Female ; Hereditary neuropathy ; Humans ; Male ; Medical sciences ; Microscopy, Electron ; Middle Aged ; Morphometry ; Nerve conduction velocity ; Nerve Fibers, Myelinated - ultrastructure ; Neurology ; Peripheral Nervous System Diseases - genetics ; Peripheral Nervous System Diseases - pathology ; Peripheral Nervous System Diseases - physiopathology ; Sural Nerve - pathology</subject><ispartof>Journal of the neurological sciences, 1993-06, Vol.116 (2), p.176-184</ispartof><rights>1993</rights><rights>1993 INIST-CNRS</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c417t-6e8770b3be5c74c4112fda6f2a2b5cb745b2f5556c4eaefb0351cd3a4fafa5d83</citedby><cites>FETCH-LOGICAL-c417t-6e8770b3be5c74c4112fda6f2a2b5cb745b2f5556c4eaefb0351cd3a4fafa5d83</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktohtml>$$Uhttps://www.sciencedirect.com/science/article/pii/0022510X9390323Q$$EHTML$$P50$$Gelsevier$$H</linktohtml><link.rule.ids>314,776,780,3537,27901,27902,65306</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=4829044$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/8393091$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Verhagen, W.I.M.</creatorcontrib><creatorcontrib>Gabreëls-Festen, A.A.W.M.</creatorcontrib><creatorcontrib>van Wensen, P.J.M.</creatorcontrib><creatorcontrib>Joosten, E.M.G.</creatorcontrib><creatorcontrib>Vingerhoets, H.M.</creatorcontrib><creatorcontrib>Gabreëls, F.J.M.</creatorcontrib><creatorcontrib>de Graaf, R.</creatorcontrib><title>Hereditary neuropathy with liability to pressure palsies: A clinical, electroneurophysiological and morphological study</title><title>Journal of the neurological sciences</title><addtitle>J Neurol Sci</addtitle><description>Clinical, electroneurographic and myographic studies were performed on 99 patients of 13 families having hereditary neuropathy with liability to pressure palsies (HNPP) and on 116 relatives. Diagnosis was confirmed in all families by a nerve biopsy of the index case. Large focal myelin thickenings (tomacula) were found in nerve biopsies of affected persons, whether or not pressure palsies had occured. By using three electroneurographical parameters it was possible to discriminate between asymptomatic patients and unaffected relatives. Complaints sometimes mentioned in literature as being associated with HNPP such as low back pain, brachialgia and short lasting paraesthesia are not related to HNPP. The hereditary transmission is autosomal dominant with total penetration but variable expression.</description><subject>Adolescent</subject><subject>Adult</subject><subject>Aged</subject><subject>Aged, 80 and over</subject><subject>Biological and medical sciences</subject><subject>Child</subject><subject>Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases</subject><subject>Electromyography</subject><subject>Electronmicroscopy</subject><subject>Electrophysiology</subject><subject>Female</subject><subject>Hereditary neuropathy</subject><subject>Humans</subject><subject>Male</subject><subject>Medical sciences</subject><subject>Microscopy, Electron</subject><subject>Middle Aged</subject><subject>Morphometry</subject><subject>Nerve conduction velocity</subject><subject>Nerve Fibers, Myelinated - ultrastructure</subject><subject>Neurology</subject><subject>Peripheral Nervous System Diseases - genetics</subject><subject>Peripheral Nervous System Diseases - pathology</subject><subject>Peripheral Nervous System Diseases - physiopathology</subject><subject>Sural Nerve - pathology</subject><issn>0022-510X</issn><issn>1878-5883</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1993</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqFkVFrFDEUhYModa3-A4U8iCg4mkySScYHoZRqhYIUFHwLmcyNG8lOxiRjmX_frLvsoz4F7vnuyeUchJ5T8o4S2r0npG0bQcmP1z170xPWsub2AdpQJVUjlGIP0eaEPEZPcv5FCOmU6s_QmWI9Iz3doLtrSDD6YtKKJ1hSnE3ZrvjOly0O3gw--LLiEvGcIOclAZ5NyB7yB3yBbfCTtya8xRDAlhQPDts1-xjiz72EzTTiXUzz9jTJZRnXp-iRq0bw7Pieo--frr5dXjc3Xz9_uby4aSynsjQdKCnJwAYQVvI6o60bTeda0w7CDpKLoXVCiM5yMOAGwgS1IzPcGWfEqNg5enXwnVP8vUAueuezhRDMBHHJWgolOtrJ_4K0E7InvK0gP4A2xZwTOD0nv6v5aUr0vhi9T13vU9c903-L0bd17cXRfxl2MJ6Wjk1U_eVRN7mm5JKZrM8njKu2_s4r9vGAQQ3tj4eks_Uw2dphqhXoMfp_33EP1Rqt6Q</recordid><startdate>19930601</startdate><enddate>19930601</enddate><creator>Verhagen, W.I.M.</creator><creator>Gabreëls-Festen, A.A.W.M.</creator><creator>van Wensen, P.J.M.</creator><creator>Joosten, E.M.G.</creator><creator>Vingerhoets, H.M.</creator><creator>Gabreëls, F.J.M.</creator><creator>de Graaf, R.</creator><general>Elsevier B.V</general><general>Elsevier Science</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>19930601</creationdate><title>Hereditary neuropathy with liability to pressure palsies: A clinical, electroneurophysiological and morphological study</title><author>Verhagen, W.I.M. ; Gabreëls-Festen, A.A.W.M. ; van Wensen, P.J.M. ; Joosten, E.M.G. ; Vingerhoets, H.M. ; Gabreëls, F.J.M. ; de Graaf, R.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c417t-6e8770b3be5c74c4112fda6f2a2b5cb745b2f5556c4eaefb0351cd3a4fafa5d83</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>1993</creationdate><topic>Adolescent</topic><topic>Adult</topic><topic>Aged</topic><topic>Aged, 80 and over</topic><topic>Biological and medical sciences</topic><topic>Child</topic><topic>Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases</topic><topic>Electromyography</topic><topic>Electronmicroscopy</topic><topic>Electrophysiology</topic><topic>Female</topic><topic>Hereditary neuropathy</topic><topic>Humans</topic><topic>Male</topic><topic>Medical sciences</topic><topic>Microscopy, Electron</topic><topic>Middle Aged</topic><topic>Morphometry</topic><topic>Nerve conduction velocity</topic><topic>Nerve Fibers, Myelinated - ultrastructure</topic><topic>Neurology</topic><topic>Peripheral Nervous System Diseases - genetics</topic><topic>Peripheral Nervous System Diseases - pathology</topic><topic>Peripheral Nervous System Diseases - physiopathology</topic><topic>Sural Nerve - pathology</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Verhagen, W.I.M.</creatorcontrib><creatorcontrib>Gabreëls-Festen, A.A.W.M.</creatorcontrib><creatorcontrib>van Wensen, P.J.M.</creatorcontrib><creatorcontrib>Joosten, E.M.G.</creatorcontrib><creatorcontrib>Vingerhoets, H.M.</creatorcontrib><creatorcontrib>Gabreëls, F.J.M.</creatorcontrib><creatorcontrib>de Graaf, R.</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>Neurosciences Abstracts</collection><collection>MEDLINE - Academic</collection><jtitle>Journal of the neurological sciences</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Verhagen, W.I.M.</au><au>Gabreëls-Festen, A.A.W.M.</au><au>van Wensen, P.J.M.</au><au>Joosten, E.M.G.</au><au>Vingerhoets, H.M.</au><au>Gabreëls, F.J.M.</au><au>de Graaf, R.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Hereditary neuropathy with liability to pressure palsies: A clinical, electroneurophysiological and morphological study</atitle><jtitle>Journal of the neurological sciences</jtitle><addtitle>J Neurol Sci</addtitle><date>1993-06-01</date><risdate>1993</risdate><volume>116</volume><issue>2</issue><spage>176</spage><epage>184</epage><pages>176-184</pages><issn>0022-510X</issn><eissn>1878-5883</eissn><coden>JNSCAG</coden><abstract>Clinical, electroneurographic and myographic studies were performed on 99 patients of 13 families having hereditary neuropathy with liability to pressure palsies (HNPP) and on 116 relatives. Diagnosis was confirmed in all families by a nerve biopsy of the index case. Large focal myelin thickenings (tomacula) were found in nerve biopsies of affected persons, whether or not pressure palsies had occured. By using three electroneurographical parameters it was possible to discriminate between asymptomatic patients and unaffected relatives. Complaints sometimes mentioned in literature as being associated with HNPP such as low back pain, brachialgia and short lasting paraesthesia are not related to HNPP. The hereditary transmission is autosomal dominant with total penetration but variable expression.</abstract><cop>Shannon</cop><pub>Elsevier B.V</pub><pmid>8393091</pmid><doi>10.1016/0022-510X(93)90323-Q</doi><tpages>9</tpages></addata></record> |
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| subjects | Adolescent Adult Aged Aged, 80 and over Biological and medical sciences Child Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases Electromyography Electronmicroscopy Electrophysiology Female Hereditary neuropathy Humans Male Medical sciences Microscopy, Electron Middle Aged Morphometry Nerve conduction velocity Nerve Fibers, Myelinated - ultrastructure Neurology Peripheral Nervous System Diseases - genetics Peripheral Nervous System Diseases - pathology Peripheral Nervous System Diseases - physiopathology Sural Nerve - pathology |
| title | Hereditary neuropathy with liability to pressure palsies: A clinical, electroneurophysiological and morphological study |
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