{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,21]],"date-time":"2025-10-21T00:36:42Z","timestamp":1761007002816,"version":"build-2065373602"},"reference-count":10,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2024,6,16]],"date-time":"2024-06-16T00:00:00Z","timestamp":1718496000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["movementdisorders.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Movement Disord Clin Pract"],"published-print":{"date-parts":[[2024,8]]},"abstract":"Abstract<\/jats:title>Background<\/jats:title>Heterozygous mutations in GBA1<\/jats:italic> gene are known as most common genetic risk factor for Parkinson's disease (PD). However, role of GBA1<\/jats:italic> mutations in non\u2010\u03b1\u2010synuclein disorders is unclear.<\/jats:p><\/jats:sec>Cases<\/jats:title>Case index, 76\u2009year\u2010old woman referred to our movement disorders outpatient clinic for 2\u2010year history of gait impairment, falls and motor slowness, with partial response to levodopa. Clinical and instrumental examinations were consistent with Progressive Supranuclear Palsy\u2010Corticobasal Syndrome (PSP\u2010CBS). Case 2 is older sister reporting depressive symptoms; however, she had dementia (MMSE 18\/30), gait apraxia and vertical supranuclear gaze palsy (VSNGP). Case 3 is her deceased older sister who had been diagnosed with Corticobasal Syndrome (CBS). Case 4, older brother had been diagnosed with Parkinson's disease\u2010dementia (PDD) with good response to levodopa. Two affected living siblings harboring same genetic variant.<\/jats:p><\/jats:sec>Conclusions<\/jats:title>To our knowledge, this is the first family showing such intrafamilial variability ranging from CBS to PDD to dementia.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mdc3.14146","type":"journal-article","created":{"date-parts":[[2024,6,17]],"date-time":"2024-06-17T01:40:56Z","timestamp":1718588456000},"page":"1030-1034","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Expanding the Spectrum of GBA1<\/i><\/scp>\u2010Associated Neurodegenerative Diseases in an Italian Family"],"prefix":"10.1002","volume":"11","author":[{"given":"Cristiano","family":"Sorrentino","sequence":"first","affiliation":[{"name":"Department of Medicine, Surgery and Dentistry \u201cScuola Medica Salernitana\u201d, Neuroscience Section University of Salerno Baronissi Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Giovanna","family":"Dati","sequence":"additional","affiliation":[{"name":"Department of Medicine, Surgery and Dentistry \u201cScuola Medica Salernitana\u201d, Neuroscience Section University of Salerno Baronissi Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sofia","family":"Cuoco","sequence":"additional","affiliation":[{"name":"Department of Medicine, Surgery and Dentistry \u201cScuola Medica Salernitana\u201d, Neuroscience Section University of Salerno Baronissi Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Paolo","family":"Barone","sequence":"additional","affiliation":[{"name":"Department of Medicine, Surgery and Dentistry \u201cScuola Medica Salernitana\u201d, Neuroscience Section University of Salerno Baronissi Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria Teresa","family":"Pellecchia","sequence":"additional","affiliation":[{"name":"Department of Medicine, Surgery and Dentistry \u201cScuola Medica Salernitana\u201d, Neuroscience Section University of Salerno Baronissi Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2024,6,16]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M511110200"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.3390\/cells8040364"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000001315"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cell.2011.06.001"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1111\/ene.12894"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/mdc3.12406"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/mds.28195"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.1220464110"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1212\/NXG.0000000000000523"}],"container-title":["Movement Disorders Clinical Practice"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/movementdisorders.onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mdc3.14146","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,20]],"date-time":"2025-10-20T11:18:12Z","timestamp":1760959092000},"score":1,"resource":{"primary":{"URL":"https:\/\/movementdisorders.onlinelibrary.wiley.com\/doi\/10.1002\/mdc3.14146"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,6,16]]},"references-count":10,"journal-issue":{"issue":"8","published-print":{"date-parts":[[2024,8]]}},"alternative-id":["10.1002\/mdc3.14146"],"URL":"https:\/\/doi.org\/10.1002\/mdc3.14146","archive":["Portico"],"relation":{},"ISSN":["2330-1619","2330-1619"],"issn-type":[{"type":"print","value":"2330-1619"},{"type":"electronic","value":"2330-1619"}],"subject":[],"published":{"date-parts":[[2024,6,16]]},"assertion":[{"value":"2024-03-06","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-06-03","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-06-16","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}