{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,29]],"date-time":"2026-06-29T03:31:49Z","timestamp":1782703909954,"version":"3.54.5"},"reference-count":31,"publisher":"SAGE Publications","issue":"3","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["JAD"],"published-print":{"date-parts":[[2021,9,28]]},"abstract":"<jats:p>Background: Variants in Niemann-Pick Type C genes (NPC1 and NPC2) have been suggested to play a role as risk or disease modifying factors for Alzheimer\u2019s disease (AD). Objective: The aim of this study was to analyze NPC1 and NPC2 variability in demented patients with evidence of brain amyloid-\u03b2 1\u201342 (A\u03b2) deposition and to correlate genetic data with clinical phenotypes. Methods: A targeted Next Generation Sequencing panel was customized to screen NPC1, NPC2, and main genes related to neurodegenerative dementias in a cohort of 136 demented patients with cerebrospinal fluid (CSF) low A\u03b2 levels or positive PET with A\u03b2 tracer and 200 non-demented geriatric subjects. Results: Seven patients were carriers of NPC variants in heterozygosis. Four of them displayed pathogenic variants previously found in NPC patients and one AD patient had a novel variant. The latter was absent in 200 non-demented elderly subjects. Five of seven patients (70%) exhibited psychiatric symptoms at onset or later as compared with 43%in non-carriers (p\u200a&gt;\u200a0.05). Conclusion: The frequency of NPC1 and NPC2 heterozygous variants in patients with CSF evidence of A\u03b2 deposition is higher than in the general population.<\/jats:p>","DOI":"10.3233\/jad-210453","type":"journal-article","created":{"date-parts":[[2021,8,17]],"date-time":"2021-08-17T14:09:07Z","timestamp":1629209347000},"page":"1313-1323","source":"Crossref","is-referenced-by-count":12,"title":["Niemann-Pick Type C 1 (NPC1) and NPC2 Gene Variability in Demented Patients with Evidence of Brain Amyloid Deposition"],"prefix":"10.1177","volume":"83","author":[{"given":"Federica","family":"Sorrentino","sequence":"first","affiliation":[{"name":"Fondazione IRCCS Ca\u2019 Granda, Ospedale Policlinico, Milan, Italy"},{"name":"University of Milan, Milan, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrea","family":"Arighi","sequence":"additional","affiliation":[{"name":"Fondazione IRCCS Ca\u2019 Granda, Ospedale Policlinico, Milan, 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