{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,27]],"date-time":"2025-10-27T20:28:06Z","timestamp":1761596886170},"reference-count":40,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2004,10,8]],"date-time":"2004-10-08T00:00:00Z","timestamp":1097193600000},"content-version":"vor","delay-in-days":5151,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Annals of Neurology"],"published-print":{"date-parts":[[1990,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We describe 5 individuals (from three separate families) with a progressive neurological disorder characterized by sensorimotor peripheral polyneuropathy, cranial neuropathies (external opthalmoplegia, deafness), and the syndrome of chronic intestinal pseudo\u2010obstruction. Magnetic resonance imaging showed widespread abnormality of the cerebral and cerebellar white matter in the 2 patients studied. Autopsy examination in 3 revealed widespread endoneurial fibrosis and demyelination in the peripheral nervous system, possibly secondary to axonal atrophy, and poorly defined changes in cerebral white matter (leukoencephalopathy). The cranial nerves and spinal roots were less severely involved and the neurons in the brainstem and spinal cord were intact. The fatal gastrointestinal dysmotility was due to a severe visceral neuropathy. We suggest that these patients manifested a hereditary disorder with distinctive clinical, radiological, and neuropathological features, and propose the acronym <jats:italic>POLIP<\/jats:italic> to emphasize the distinctive tetrad of <jats:italic>p<\/jats:italic>olyneuropathy, <jats:italic>o<\/jats:italic>pthalmoplegia, <jats:italic>l<\/jats:italic>eukoencephalopathy, and <jats:italic>i<\/jats:italic>ntestinal <jats:italic>p<\/jats:italic>seudo\u2010obstruction.<\/jats:p>","DOI":"10.1002\/ana.410280308","type":"journal-article","created":{"date-parts":[[2005,1,1]],"date-time":"2005-01-01T14:27:33Z","timestamp":1104589653000},"page":"349-360","source":"Crossref","is-referenced-by-count":76,"title":["Polyneuropathy, ophthalmoplegia, leukoencephalopathy, and intestinal pseudo\u2010obstruction: <i>POLIP<\/i> syndrome"],"prefix":"10.1002","volume":"28","author":[{"given":"Lynn T.","family":"Simon","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dikran S.","family":"Horoupian","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Leslie J.","family":"Dorfman","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michael","family":"Marks","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maie Kaarsoo","family":"Herrick","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Philip","family":"Wasserstein","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marion E.","family":"Smith","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2004,10,8]]},"reference":[{"key":"e_1_2_1_2_2","first-page":"771","article-title":"Familial steatorrhea with calcification of the basal ganglia and mental retardation","volume":"168","author":"Cockel R","year":"1973","journal-title":"QJ Med"},{"key":"e_1_2_1_3_2","doi-asserted-by":"publisher","DOI":"10.1016\/0022-510X(83)90039-4"},{"key":"e_1_2_1_4_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320180426"},{"key":"e_1_2_1_5_2","doi-asserted-by":"publisher","DOI":"10.1016\/0016-5085(78)90476-6"},{"key":"e_1_2_1_6_2","first-page":"27","article-title":"Hereditary nerve deafness in three sisters with absent gastric motility, small bowel diverticulitis and ulceration and progressive sensory neuropathy","volume":"8","author":"Hirschowitz BI","year":"1972","journal-title":"Birth Defects"},{"key":"e_1_2_1_7_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.37.6.1046"},{"key":"e_1_2_1_8_2","doi-asserted-by":"publisher","DOI":"10.1007\/BF00737167"},{"key":"e_1_2_1_9_2","doi-asserted-by":"publisher","DOI":"10.1016\/0005-2760(68)90154-9"},{"key":"e_1_2_1_10_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1462-5822.2007.00901.x"},{"key":"e_1_2_1_11_2","volume-title":"The neurology of gastrointestinal disease","author":"Pallis CA","year":"1974"},{"key":"e_1_2_1_12_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0025-7125(16)31475-4"},{"key":"e_1_2_1_13_2","doi-asserted-by":"publisher","DOI":"10.1016\/0016-5085(78)90156-7"},{"key":"e_1_2_1_14_2","doi-asserted-by":"publisher","DOI":"10.1016\/0016-5085(86)90948-0"},{"key":"e_1_2_1_15_2","first-page":"42","article-title":"Intestinal pseudo\u2010obstruction in a patient with myotonic dystrophy","volume":"82","author":"Dabaghi RE","year":"1986","journal-title":"Tex Med"},{"key":"e_1_2_1_16_2","doi-asserted-by":"publisher","DOI":"10.1136\/gut.29.4.544"},{"key":"e_1_2_1_17_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0002-9343(70)80076-6"},{"key":"e_1_2_1_18_2","doi-asserted-by":"publisher","DOI":"10.1016\/0016-5085(87)90926-7"},{"key":"e_1_2_1_19_2","doi-asserted-by":"publisher","DOI":"10.1016\/0016-5085(85)90223-9"},{"key":"e_1_2_1_20_2","doi-asserted-by":"publisher","DOI":"10.1136\/bmj.1.5645.686"},{"key":"e_1_2_1_21_2","doi-asserted-by":"publisher","DOI":"10.1016\/0016-5085(86)91134-0"},{"key":"e_1_2_1_22_2","doi-asserted-by":"crossref","first-page":"476","DOI":"10.1016\/S0016-5085(82)80396-X","article-title":"Chronic idiopathic intestinal pseudo\u2010obstruction caused by a degenerative disorder of the myenteric plexus: the use of Smith's method to define the neuropathology","volume":"82","author":"Schuffler MD","year":"1982","journal-title":"Gastroenterology"},{"key":"e_1_2_1_23_2","doi-asserted-by":"publisher","DOI":"10.7326\/0003-4819-98-2-129"},{"key":"e_1_2_1_24_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410110613"},{"key":"e_1_2_1_25_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0046-8177(82)80079-8"},{"key":"e_1_2_1_26_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0016-5085(19)32221-8"},{"key":"e_1_2_1_27_2","doi-asserted-by":"publisher","DOI":"10.1016\/0016-5085(86)90211-8"},{"key":"e_1_2_1_28_2","doi-asserted-by":"crossref","first-page":"645","DOI":"10.1080\/00365521.1974.12096890","article-title":"Megaduodenum: a case with bacterial overgrowth, deconjugation of bile salts, malabsorption, and polyneuropathy","volume":"9","author":"Matzen P","year":"1974","journal-title":"Scand J Gastroenterol"},{"key":"e_1_2_1_29_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.26.6.565"},{"key":"e_1_2_1_30_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1469-8749.1975.tb03502.x"},{"key":"e_1_2_1_31_2","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/105.2.395"},{"key":"e_1_2_1_32_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410010609"},{"key":"e_1_2_1_33_2","doi-asserted-by":"publisher","DOI":"10.1136\/bmj.4.5893.661"},{"key":"e_1_2_1_34_2","first-page":"28","article-title":"Central hypomyelination associated with congenital hypomyelinating neuropathy: report of an autopsied case","volume":"8","author":"Johnson MD","year":"1989","journal-title":"Clin Neuropathol"},{"key":"e_1_2_1_35_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.37.8.1287"},{"key":"e_1_2_1_36_2","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/110.1.53"},{"key":"e_1_2_1_37_2","doi-asserted-by":"publisher","DOI":"10.1016\/0022-510X(82)90076-4"},{"key":"e_1_2_1_38_2","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/89.4.683"},{"key":"e_1_2_1_39_2","doi-asserted-by":"publisher","DOI":"10.1097\/00005072-198709000-00004"},{"key":"e_1_2_1_40_2","doi-asserted-by":"publisher","DOI":"10.1097\/00005072-198905000-00215"},{"key":"e_1_2_1_41_2","volume-title":"Peripheral neuropathy","author":"Dyck PJ","year":"1984"}],"container-title":["Annals of Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fana.410280308","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ana.410280308","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,27]],"date-time":"2023-09-27T09:31:31Z","timestamp":1695807091000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ana.410280308"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1990,9]]},"references-count":40,"journal-issue":{"issue":"3","published-print":{"date-parts":[[1990,9]]}},"alternative-id":["10.1002\/ana.410280308"],"URL":"https:\/\/doi.org\/10.1002\/ana.410280308","archive":["Portico"],"relation":{},"ISSN":["0364-5134","1531-8249"],"issn-type":[{"value":"0364-5134","type":"print"},{"value":"1531-8249","type":"electronic"}],"subject":[],"published":{"date-parts":[[1990,9]]}}}