{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,1]],"date-time":"2026-07-01T16:04:16Z","timestamp":1782921856600,"version":"3.54.5"},"reference-count":12,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2001,7,3]],"date-time":"2001-07-03T00:00:00Z","timestamp":994118400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Annals of Neurology"],"published-print":{"date-parts":[[2001,8]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>The fluorogenic enzyme assay for palmitoyl\u2010protein thioesterase (PPT) has greatly facilitated the diagnosis of infantile neuronal ceroid lipofuscinosis (Santavuori\u2010Haltia disease) and the search for possible new variants with atypical clinical presentation. Here, we present the first cases of adult neuronal ceroid lipofuscinosis with onset in the fourth decade of life due to a profound deficiency of PPT. The causative mutations in the <jats:italic>CLN1<\/jats:italic> gene were the known, deleterious mutation R151X and the novel missense mutation G108R. Patients presented at onset (31 and 38 years), with psychiatric symptoms only. At present (ages 56 and 54 years), visual, verbal, and cognitive losses have progressed and both patients have cerebellar ataxia and cannot walk without support.<\/jats:p>","DOI":"10.1002\/ana.1103","type":"journal-article","created":{"date-parts":[[2002,9,10]],"date-time":"2002-09-10T23:33:12Z","timestamp":1031700792000},"page":"269-272","source":"Crossref","is-referenced-by-count":100,"title":["Adult neuronal ceroid lipofuscinosis with palmitoyl\u2010protein thioesterase deficiency: First adult\u2010onset patients of a childhood disease"],"prefix":"10.1002","volume":"50","author":[{"given":"Otto P.","family":"Van Diggelen","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stephane","family":"Thobois","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Caroline","family":"Tilikete","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marie\u2010Th\u00e9r\u00e8se","family":"Zabot","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joke L. M.","family":"Keulemans","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Patrick A.","family":"Van Bunderen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peter E. 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