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The abnormal ultrastructural profiles seen in NCL are used for standard diagnosis; however, they can be missed, and are also found in other neurodegenerative conditions. Furthermore, there is an overlap between the types of inclusion profiles among the different forms of NCL. Therefore, a more specific and biochemically\u2010based marker is necessary to confirm the diagnosis of NCL. Antibodies raised against the storage material from the ovine form of NCL (mitochondrial ATP synthase subunit c) were utilized to determine whether NCL could be distinguished from other metabolic\u2010neurodegenerative disorders. By immunoblotting and immunohistochemistry, several brain samples of well\u2010evaluated NCL cases confirmed increased accumulations in all NCL cases except in the brain of an infantile\u2010onset NCL patient. The immunoblot studies of skin fibroblasts and brain were sensitive but not highly specific to NCL, due to the recognition of this material in normal controls as well as in other neurogenetic diseases. Immunocytochemistry of skin fibroblasts clearly distinguished LINCL and JNCL cases from controls, and with further refinement has the potential for becoming a diagnostic tool. \u00a9 1995 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.1320570226","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T18:01:48Z","timestamp":1118512908000},"page":"239-245","source":"Crossref","is-referenced-by-count":74,"title":["Diagnoses of neuronal ceroid\u2010lipofuscinosis by immunochemical methods"],"prefix":"10.1002","volume":"57","author":[{"given":"Syed","family":"Hosain","sequence":"first","affiliation":[]},{"given":"Walter E.","family":"Kaufmann","sequence":"additional","affiliation":[]},{"given":"Gisela","family":"Negrin","sequence":"additional","affiliation":[]},{"given":"Paul A.","family":"Watkins","sequence":"additional","affiliation":[]},{"given":"Aristotle N.","family":"Siakotos","sequence":"additional","affiliation":[]},{"given":"David N.","family":"Palmer","sequence":"additional","affiliation":[]},{"given":"SakkuBai","family":"Naidu","sequence":"additional","affiliation":[]}],"member":"311","published-online":{"date-parts":[[2005,6,9]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF01273267"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00684808"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1001\/archopht.1987.01060100090034"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410330408"},{"key":"e_1_2_1_6_1","first-page":"1372","article-title":"Regional mapping of the Batten disease locus (CLN3) to human chromosome 16p12","volume":"49","author":"Callen DF","year":"1991","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320310611"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/100.1.137"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1177\/088307388900400302"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1989.tb03193.x"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.1977.00500130059012"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1042\/bj2680751"},{"key":"e_1_2_1_13_1","doi-asserted-by":"publisher","DOI":"10.1007\/978-3-642-73697-1_35"},{"key":"e_1_2_1_14_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00691325"},{"key":"e_1_2_1_15_1","doi-asserted-by":"publisher","DOI":"10.1042\/bj2750269"},{"key":"e_1_2_1_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/0888-7543(91)90235-7"},{"key":"e_1_2_1_17_1","doi-asserted-by":"publisher","DOI":"10.1203\/00006450-199212000-00003"},{"key":"e_1_2_1_18_1","doi-asserted-by":"publisher","DOI":"10.1093\/oxfordjournals.jbchem.a123749"},{"key":"e_1_2_1_19_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1462-5822.2007.00901.x"},{"key":"e_1_2_1_20_1","volume-title":"The Eye and Inborn Errors of Metabolism.","author":"Lake BD","year":"1976"},{"issue":"3","key":"e_1_2_1_20_2","first-page":"455","journal-title":"BD:OAS"},{"key":"e_1_2_1_21_1","volume-title":"Theory and practice.","author":"Larsson LI","year":"1988"},{"key":"e_1_2_1_22_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.28.10.1008"},{"key":"e_1_2_1_23_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1471-4159.1991.tb06396.x"},{"key":"e_1_2_1_24_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320310618"},{"key":"e_1_2_1_25_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0021-9258(18)83610-9"},{"key":"e_1_2_1_26_1","doi-asserted-by":"crossref","unstructured":"PalmerDN FearnleyIM MeddSM WalkerJE MartinusRD BaylissSL HallNA LakeBD WolfeLS JollyRD(1990): Lysosomal storage of the DCCD reactive proteolipid subunit of mitochondrial ATP synthase In human and ovine lipofuscinosis. 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