{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,7]],"date-time":"2026-02-07T04:35:41Z","timestamp":1770438941013,"version":"3.49.0"},"reference-count":22,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2012,5,8]],"date-time":"2012-05-08T00:00:00Z","timestamp":1336435200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Euro J of Neurology"],"published-print":{"date-parts":[[2012,10]]},"abstract":"Background and purpose<\/jats:title>Rectal biopsy is usually performed for in vivo<\/jats:italic> diagnosis of Kufs disease (KD<\/jats:styled-content>). We evaluated the usefulness of rectal biopsy in the diagnosis of such condition by comparing ultrastructural data of patients with suspicion of KD<\/jats:styled-content> with those of control subjects. Furthermore, we reviewed literature data concerning the value of such a diagnostic procedure in the diagnosis of KD<\/jats:styled-content>.<\/jats:p><\/jats:sec>Methods<\/jats:title>Sixty\u2010five subjects were enrolled and underwent rectal biopsy. Of these, 13 had a clinical picture in keeping with KD<\/jats:styled-content>, whereas 52, affected by Irritable Bowel Syndrome, constituted the control group.<\/jats:p><\/jats:sec>Results<\/jats:title>Ultrastructural analysis evidenced fingerprint (FP<\/jats:styled-content>) inclusions in 12 subjects, 4\/13 with suspicion of KD<\/jats:styled-content> and 8\/52 controls. In patients, FP<\/jats:styled-content>s were mainly located in vascular smooth muscle cells (VSMC<\/jats:styled-content>) while in controls they were mostly found in pericytes and VSMC<\/jats:styled-content>. No FP<\/jats:styled-content>s were found in one patient with genetically confirmed KD<\/jats:styled-content>. In literature, we identified 14 KD<\/jats:styled-content> patients who underwent rectal biopsy. In most reports, ultrastructural features were not systematically analyzed or described.<\/jats:p><\/jats:sec>Conclusions<\/jats:title>Fingerprints are the most common ultrastructural finding in rectal biopsy in patients with suspicion of KD<\/jats:styled-content>. However, their presence in pericytes and VSMC<\/jats:styled-content> is not specific for KD<\/jats:styled-content> because they may be found in controls subjects. Our literature review revealed that data on the value of rectal biopsy in the diagnosis of KD<\/jats:styled-content> are scarce. In light of these findings, the relevance of rectal biopsy in such condition should be re\u2010evaluated.<\/jats:p><\/jats:sec>","DOI":"10.1111\/j.1468-1331.2012.03748.x","type":"journal-article","created":{"date-parts":[[2012,5,8]],"date-time":"2012-05-08T12:57:13Z","timestamp":1336481833000},"page":"1331-1336","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["Usefulness of rectal biopsy for the diagnosis of Kufs disease: a controlled study and review of the literature"],"prefix":"10.1111","volume":"19","author":[{"given":"E.","family":"Ferlazzo","sequence":"first","affiliation":[{"name":"Institute of Neurology Magna Gr\u00e6cia University Catanzaro Italy"},{"name":"Regional Epilepsy Centre \u201cBianchi\u2010Melacrino\u2010Morelli\u201d Hospital Reggio Calabria Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S.","family":"Gasparini","sequence":"additional","affiliation":[{"name":"Institute of Neurology Magna Gr\u00e6cia University Catanzaro Italy"},{"name":"Regional Epilepsy Centre \u201cBianchi\u2010Melacrino\u2010Morelli\u201d Hospital Reggio Calabria Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"G.","family":"Pasquinelli","sequence":"additional","affiliation":[{"name":"Department of Hematology, Oncology and Clinical Pathology, Policlinico S. Orsola University of Bologna Bologna Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A.","family":"Labate","sequence":"additional","affiliation":[{"name":"Institute of Neurology Magna Gr\u00e6cia University Catanzaro Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A.","family":"Gambardella","sequence":"additional","affiliation":[{"name":"Institute of Neurology Magna Gr\u00e6cia University Catanzaro Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"V.","family":"Sofia","sequence":"additional","affiliation":[{"name":"Institute of Neurology University of Catania Catania Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"V.","family":"Cianci","sequence":"additional","affiliation":[{"name":"Institute of Neurology Magna Gr\u00e6cia University Catanzaro Italy"},{"name":"Regional Epilepsy Centre \u201cBianchi\u2010Melacrino\u2010Morelli\u201d Hospital Reggio Calabria Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"D.","family":"Branca","sequence":"additional","affiliation":[{"name":"Regional Epilepsy Centre \u201cBianchi\u2010Melacrino\u2010Morelli\u201d Hospital Reggio Calabria Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A.","family":"Quattrone","sequence":"additional","affiliation":[{"name":"Institute of Neurology Magna Gr\u00e6cia University Catanzaro Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"U.","family":"Aguglia","sequence":"additional","affiliation":[{"name":"Institute of Neurology Magna Gr\u00e6cia University Catanzaro Italy"},{"name":"Regional Epilepsy Centre \u201cBianchi\u2010Melacrino\u2010Morelli\u201d Hospital Reggio Calabria Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2012,5,8]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1750-3639.2004.tb00499.x"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/111.1.27"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.51.4.1180"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1750-3639.2008.00160.x"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1212\/01.wnl.0000335164.02634.f6"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1750-3639.1998.tb00140.x"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1080\/usp.28.1.43.48"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2011.04.004"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/100.1.137"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1007\/s004010050866"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1093\/med\/9780199590018.003.0014"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00691807"},{"key":"e_1_2_7_14_1","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp.54.7.655-a"},{"key":"e_1_2_7_15_1","first-page":"33","article-title":"MRI and computer\u2010assisted tomography in Kufs disease. Apropos of a familial form","volume":"23","author":"Cottier JP","year":"1996","journal-title":"J Neuroradiol"},{"key":"e_1_2_7_16_1","doi-asserted-by":"publisher","DOI":"10.1007\/s004150070174"},{"key":"e_1_2_7_17_1","doi-asserted-by":"publisher","DOI":"10.1007\/s001150050577"},{"key":"e_1_2_7_18_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1750-3639.2003.tb00486.x"},{"key":"e_1_2_7_19_1","doi-asserted-by":"publisher","DOI":"10.1212\/01.wnl.0000252825.85947.2f"},{"key":"e_1_2_7_20_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.stem.2008.07.003"},{"key":"e_1_2_7_21_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.prp.2010.11.002"},{"key":"e_1_2_7_22_1","doi-asserted-by":"publisher","DOI":"10.1677\/joe.0.1610317"},{"key":"e_1_2_7_23_1","doi-asserted-by":"publisher","DOI":"10.1093\/med\/9780199590018.003.0004"}],"container-title":["European Journal of Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fj.1468-1331.2012.03748.x","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/j.1468-1331.2012.03748.x","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,23]],"date-time":"2023-09-23T20:27:08Z","timestamp":1695500828000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/j.1468-1331.2012.03748.x"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2012,5,8]]},"references-count":22,"journal-issue":{"issue":"10","published-print":{"date-parts":[[2012,10]]}},"alternative-id":["10.1111\/j.1468-1331.2012.03748.x"],"URL":"https:\/\/doi.org\/10.1111\/j.1468-1331.2012.03748.x","archive":["Portico"],"relation":{},"ISSN":["1351-5101","1468-1331"],"issn-type":[{"value":"1351-5101","type":"print"},{"value":"1468-1331","type":"electronic"}],"subject":[],"published":{"date-parts":[[2012,5,8]]},"assertion":[{"value":"2011-12-05","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2012-03-30","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2012-05-08","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}