{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2024,9,12]],"date-time":"2024-09-12T11:14:17Z","timestamp":1726139657509},"reference-count":17,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2005,6,9]],"date-time":"2005-06-09T00:00:00Z","timestamp":1118275200000},"content-version":"vor","delay-in-days":3657,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1995,6,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>A 6\u2010year\u2010old girl had progressive ataxia, and visual disturbances resulting in blindness. She died in her sleep at age 22 years. She shared with her sister and paternal relatives bilateral pes cavus deformities and impaired deep\u2010tendon reflexes which suggested Charcot\u2010Marie\u2010Tooth disease. Her sister, who also had both polyneuropathy and a progressive central nervous system (CNS) disease, did not have pigmentary retinopathy. At autopsy, the patient was found to have neuronal ceroid\u2010lipofuscinosis (NCL) marked by intraneuronal accumulation of autofluorescent granular lipopigments in ballooned perikarya and conspicuous extraneuronal pigmentation of subcortical grey matter, but without axonal spheroids. These findings indicate a pigment variant of NCL and represent one of very few patients recorded. The ultrastructure of the intraneuronal pigments was uniformly granular, while that of the extraneuronal pigments found within processes of the neuropil and glial perikarya was more variegated.<\/jats:p><jats:p>In addition to those patients with the pigment variant of NCL, described earlier by Jakob and Kolkmann [1973: Acta Neuropathol (Berl) 26:225\u2013236], and Jervis and Pullarkat [1978: Neurology 28:500\u2013503], our patient shared clinical symptoms with those described in a family afflicted with polyneuropathy and NCL by Wisniewski et al. [1987: J Child Neurol 2:33\u201341].<\/jats:p><jats:p>Currently, it is unclear whether these families harbor different genetic diseases or whether they have similar atypical forms of juvenile NCL (JNCL). We conclude that the spectrum of pigment variants in lysosomal diseases is heterogeneous: only few and recently described patients have had NCL, while others most likely had other forms of lipidosis. \u00a9 1995 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.1320570209","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T18:01:48Z","timestamp":1118512908000},"page":"155-159","source":"Crossref","is-referenced-by-count":8,"title":["Pigment variant of neuronal ceroid\u2010lipofuscinosis"],"prefix":"10.1002","volume":"57","author":[{"given":"Hans Hilmar","family":"Goebel","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Filippo","family":"Gullotta","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Thomas","family":"Bajanowski","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Flemming Juul","family":"Hansen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Heiko","family":"Braak","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,6,9]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/111.1.27"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF01273267"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00684808"},{"key":"e_1_2_1_5_1","first-page":"167","article-title":"A histochemical and ultrastructural study of stored material in neuronal ceroid lipofuscinosis","volume":"38","author":"Elleder M","year":"1978","journal-title":"Virchows Arch [B]"},{"key":"e_1_2_1_6_1","doi-asserted-by":"crossref","first-page":"67","DOI":"10.1017\/S0317167100120438","article-title":"Pigment variant of neuronal ceroid\u2010lipofuscinosis (Kufs' disease)","volume":"4","author":"Horoupian DS","year":"1977","journal-title":"Can J Neurol Sci"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00684432"},{"key":"e_1_2_1_8_1","first-page":"31","article-title":"Adult GM2 gangliosidosis masquerading as slowly progressive muscular atrophy: motor neuron disease phenotype","volume":"1","author":"Jellinger K","year":"1982","journal-title":"Clin Neuropathol"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1097\/00005072-195201000-00002"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.28.5.500"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.31.6.719"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00242703"},{"key":"e_1_2_1_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/B978-1-4831-9648-0.50008-0"},{"key":"e_1_2_1_14_1","first-page":"43","volume-title":"Inborn Disorders of sphingolipid metabolism. Proceedings of the Third International Symposium on the Cerebral Sphingolipidoses.","author":"Seitelberger F","year":"1966"},{"key":"e_1_2_1_15_1","doi-asserted-by":"publisher","DOI":"10.1159\/000139585"},{"key":"e_1_2_1_16_1","doi-asserted-by":"publisher","DOI":"10.1055\/s-2008-1052551"},{"key":"e_1_2_1_17_1","first-page":"33","article-title":"Spino\u2010cerebellar degeneration with polyneuropathy associated with ceroid lipofuscinosis in one family","volume":"2","author":"Wisniewski KE","year":"1987","journal-title":"J Child Neurol"},{"key":"e_1_2_1_18_1","doi-asserted-by":"publisher","DOI":"10.1097\/00005072-195810000-00010"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320570209","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320570209","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,26]],"date-time":"2023-10-26T15:19:55Z","timestamp":1698333595000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320570209"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1995,6,5]]},"references-count":17,"journal-issue":{"issue":"2","published-print":{"date-parts":[[1995,6,5]]}},"alternative-id":["10.1002\/ajmg.1320570209"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320570209","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1995,6,5]]}}}