{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,21]],"date-time":"2026-05-21T03:59:33Z","timestamp":1779335973258,"version":"3.51.4"},"reference-count":30,"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>We report on 30 cases of neuronal ceroid lipofuscinoses (NCL), mainly diagnosed in 1985\u20131993 in Argentina, whose population is predominantly of European descent. Twenty\u2010four cases were late infantile Jansky\u2010Bielschowsky (LINCL) and 6 were juvenile Spielmeyer\u2010Vogt (JNCL). Sex ratio was female: male, 20:10. Age range and mean at onset and at diagnosis for the LINCL cases were 1\u20136 years, mean 3.1, and 2\u201311 years, mean 5.5, and for the JNCL cases, 5\u20139 years, mean 7, and 9\u201318 years, mean 13, respectively. Cases were referred for biopsy after neurological examination, and most included complete electrophysiological [electroencephalography (EEG) with photic stimulation, electroretinography (ERG), and visual\u2010evoked potential (VEP)], neuroimaging, and neurometabolic investigation. NCL was the first suspected clinical diagnosis, followed by mitochondrial encephalopathy in some cases of recent onset. Except for 1 case, clinical findings were homogeneous in LINCL, characterized by refractive epilepsy, mental regression and progressive deterioration, ataxia, myoclonia, and visual loss. Abnormal VEP, ERG, and EEG, with polyphasic high\u2010voltage spikes when photic stimulation was performed at low frequency, were observed. Visual impairment and retinitis pigmentosa were early manifestations in 4\/6 JNCL, followed by mental abnormalities, motor deterioration, and myoclonic jerks, while 2\/4 followed an atypical course. In both variants inheritance was autosomal\u2010recessive. Five out of 27 families had more than 1 affected member, 3 of whom were included in our series. Diagnosis was initially performed in conjunctival biopsy in 3 cases, skin in 5, muscle in 17, and brain in 5, though most cases had a concomitant biopsy from another tissue including nerve, and there was a single brain autopsy. In the LINCL variant, storage material was mainly curvilinear, also exhibiting dense areas and electron\u2010lucent vacuoles in 1 case. In addition to fingerprint profiles in 4\/6 cases, JNCL biopsies presented curvilinear profiles in a skin biopsy in 1 case, and electronlucent vacuoles in 2 cases in a muscle and brain biopsy coexisting within the same inclusion, with the curvilinear profiles surrounded by a unit membrane, while the other 2\/6 had granular osmiophilic inclusions with poorly defined rectilinear areas. The purpose of this report is to describe NCL in a country mainly populated by European descendants, in order to contribute data for further collaborative research. \u00a9 1995 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.1320570207","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T18:01:48Z","timestamp":1118512908000},"page":"144-149","source":"Crossref","is-referenced-by-count":18,"title":["Childhood neuronal ceroid\u2010lipofuscinoses in Argentina"],"prefix":"10.1002","volume":"57","author":[{"given":"Ana Lia","family":"Taratuto","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mar\u00eda","family":"Saccoliti","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gustavo","family":"Sevlever","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Victor","family":"Ruggieri","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hugo","family":"Arroyo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mar\u00eda","family":"Herrero","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mario","family":"Massaro","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Natalio","family":"Fejerman","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":"10.1203\/00006450-198502000-00014"},{"key":"e_1_2_1_3_1","unstructured":"CardonaP RosatiE(1994):The neuronal ceroid\u2010lipofuscinosis in Italy: an epidemiological study. Proceedings of the Fifth International Conference on Neuronal Ceroid\u2010Lipofuscinoses. 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