{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,6]],"date-time":"2026-07-06T23:27:28Z","timestamp":1783380448851,"version":"3.54.6"},"reference-count":28,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2015,8,19]],"date-time":"2015-08-19T00:00:00Z","timestamp":1439942400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Autism Research"],"published-print":{"date-parts":[[2016,4]]},"abstract":"<jats:p>Protein N\u2010glycosylation consists in the synthesis and processing of the oligosaccharide moiety (N\u2010glycan) linked to a protein and it serves several functions for the proper central nervous system (CNS) development and function. Previous experimental and clinical studies have shown the importance of proper glycoprotein sialylation for the synaptic function and the occurrence of autism spectrum disorders (ASD) in the presence of sialylation deficiency in the CNS. Late\u2010onset Tay Sachs disease (LOTSD) is a lysosomal disorder caused by mutations in the <jats:italic>HEXA<\/jats:italic> gene resulting in GM2\u2010ganglioside storage in the CNS. It is characterized by progressive neurological impairment and high co\u2010occurrence of psychiatric disturbances. We studied the N\u2010glycome profile of the cerebrospinal fluid (CSF) in a 14 year\u2010old patient with GM2\u2010gangliosidosis (LOTSD). At the age of 4, the patient presented regressive autism fulfilling criteria for childhood disintegrative disorder (CDD). A CSF sample was obtained in the course of diagnostic work\u2010up for the suspicion of an underlying neurodegenerative disorder. We found definite changes of CSF N\u2010glycans due to a dramatic decrease of sialylated biantennary and triantennary structures and an increase of asialo\u2010core fucosylated bisected N\u2010glycans. No changes of total plasma N\u2010glycans were found. Herein findings highlight possible relationships between the early onset psychiatric disturbance featuring CDD in the patient and defective protein sialylation in the CNS. In conclusion, the study first shows aberrant N\u2010glycan structures of CSF proteins in LOTSD; unveils possible pathomechanisms of GM2\u2010gangliosidosis; supports existing relationships between neuropsychiatric disorders and unproper protein glycosylation in the CNS. <jats:bold><jats:italic>Autism Res<\/jats:italic><\/jats:bold> <jats:italic>2016, 9: 423\u2013428<\/jats:italic>. \u00a9 2015 International Society for Autism Research, Wiley Periodicals, Inc.<\/jats:p>","DOI":"10.1002\/aur.1541","type":"journal-article","created":{"date-parts":[[2015,8,19]],"date-time":"2015-08-19T05:45:55Z","timestamp":1439963155000},"page":"423-428","source":"Crossref","is-referenced-by-count":29,"title":["CSF N\u2010glycan profile reveals sialylation deficiency in a patient with GM2 gangliosidosis presenting as childhood disintegrative disorder"],"prefix":"10.1002","volume":"9","author":[{"given":"Rita","family":"Barone","sequence":"first","affiliation":[{"name":"Child Neurology and Psychiatry 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