{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,17]],"date-time":"2026-03-17T01:51:10Z","timestamp":1773712270706,"version":"3.50.1"},"reference-count":16,"publisher":"BMJ","issue":"1","license":[{"start":{"date-parts":[[2018,11,1]],"date-time":"2018-11-01T00:00:00Z","timestamp":1541030400000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.bmj.com\/company\/legal-information\/terms-conditions\/legal-information\/tdm-licencepolicy"}],"content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2018,11,5]]},"published-print":{"date-parts":[[2018,11]]},"abstract":"<jats:p>Less than 10% of Alzheimer\u2019s disease (AD) cases are familial. Presenilin-1 (PSEN1) mutations are the most frequent aetiology and may be associated to atypical neurological manifestations. We report the case of a 27-year-old right-handed man, ensuing with mild cognitive impairment, motor discoordination and axial myoclonus after a parachute accident. At age 32 he was referred to our neurology clinic, presenting cognitive impairment, cerebellar syndrome, axial myoclonus and hypomimia, without other signs of parkinsonism. Because of absence of family history, he was worked up along the line of spinal ataxic disorders. Later, he developed pseudobulbar affect, cognitive deterioration, right upper limb paresis and spastic paraparesis. Subsequent investigation identified a PSEN1 P117L mutation and the diagnosis of autosomal dominant AD was made. This case illustrates the diagnostic challenge imposed by atypical presentation of de novo PSEN1 mutation, leading to unnecessary investigation. Genetic study might be essential for defining the diagnosis.<\/jats:p>","DOI":"10.1136\/bcr-2018-226664","type":"journal-article","created":{"date-parts":[[2018,12,18]],"date-time":"2018-12-18T17:19:47Z","timestamp":1545153587000},"page":"e226664","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":6,"title":["Difficult case of a rare form of familial Alzheimer\u2019s disease with PSEN1 P117L mutation"],"prefix":"10.1136","volume":"11","author":[{"given":"Ana Lu\u00edsa","family":"Rocha","sequence":"first","affiliation":[{"name":"Department of Neurology, Centro Hospitalar e Universit\u00e1rio de S\u00e3o Jo\u00e3o, Porto, Portugal"}]},{"given":"Andreia","family":"Costa","sequence":"additional","affiliation":[{"name":"Department of Neurology, Centro Hospitalar e Universit\u00e1rio de S\u00e3o Jo\u00e3o, Porto, Portugal"}]},{"given":"Maria Carolina","family":"Garrett","sequence":"additional","affiliation":[{"name":"Department of Neurology, Centro Hospitalar e Universit\u00e1rio de S\u00e3o Jo\u00e3o, Porto, Portugal"}]},{"given":"Joana","family":"Meireles","sequence":"additional","affiliation":[{"name":"Department of Neurology, Centro Hospitalar do T\u00e2mega e Sousa, Penafiel, Portugal"}]}],"member":"239","published-online":{"date-parts":[[2018,12,13]]},"reference":[{"key":"2025082722153846000_11.1.e226664.1","doi-asserted-by":"publisher","DOI":"10.1097\/00001756-199801260-00008"},{"key":"2025082722153846000_11.1.e226664.2","doi-asserted-by":"crossref","first-page":"31","DOI":"10.3233\/JAD-2004-6105","article-title":"A novel highly pathogenic Alzheimer presenilin-1 mutation in codon 117 (Pro117Ser): Comparison of clinical, neuropathological and cell culture phenotypes of Pro117Leu and Pro117Ser mutations","volume":"6","author":"Dowjat","year":"2004","journal-title":"J Alzheimers Dis"},{"key":"2025082722153846000_11.1.e226664.3","doi-asserted-by":"crossref","first-page":"1057","DOI":"10.1111\/j.1468-1331.2007.01664.x","article-title":"Dementia, delusions and seizures: storage disease or genetic AD?","volume":"14","author":"Alberici","year":"2007","journal-title":"Eur J Neurol"},{"key":"2025082722153846000_11.1.e226664.4","doi-asserted-by":"publisher","DOI":"10.1002\/1531-8249(200101)49:1<125::AID-ANA21>3.0.CO;2-1"},{"key":"2025082722153846000_11.1.e226664.5","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/123.12.2467"},{"key":"2025082722153846000_11.1.e226664.6","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.39.2.e2"},{"key":"2025082722153846000_11.1.e226664.7","doi-asserted-by":"publisher","DOI":"10.1016\/S0002-9440(10)64688-3"},{"key":"2025082722153846000_11.1.e226664.8","doi-asserted-by":"publisher","DOI":"10.1097\/00001756-199704140-00043"},{"key":"2025082722153846000_11.1.e226664.9","doi-asserted-by":"crossref","first-page":"1732","DOI":"10.1212\/WNL.49.6.1732","article-title":"Progressive myoclonus epilepsy in young adults with neuropathologic features of Alzheimer\u2019s disease","volume":"49","author":"Melanson","year":"1997","journal-title":"Neurology"},{"key":"2025082722153846000_11.1.e226664.10","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awg084"},{"key":"2025082722153846000_11.1.e226664.11","doi-asserted-by":"publisher","DOI":"10.1038\/nm0498-452"},{"key":"2025082722153846000_11.1.e226664.12","doi-asserted-by":"publisher","DOI":"10.1016\/j.nbd.2003.10.008"},{"key":"2025082722153846000_11.1.e226664.13","doi-asserted-by":"crossref","first-page":"709","DOI":"10.3233\/JAD-140081","article-title":"A novel PSEN1 mutation in a patient with sporadic early-onset Alzheimer\u2019s disease and prominent cerebellar ataxia","volume":"41","author":"Testi","year":"2014","journal-title":"J Alzheimers Dis"},{"key":"2025082722153846000_11.1.e226664.14","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp.2007.123026"},{"key":"2025082722153846000_11.1.e226664.15","doi-asserted-by":"publisher","DOI":"10.1016\/j.neulet.2008.04.029"},{"key":"2025082722153846000_11.1.e226664.16","unstructured":"ClinicalTrials.gov. 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