{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,20]],"date-time":"2026-09-20T02:04:27Z","timestamp":1789869867922,"version":"4.0.1"},"reference-count":24,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2011,3,8]],"date-time":"2011-03-08T00:00:00Z","timestamp":1299542400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J of Inher Metab Disea"],"published-print":{"date-parts":[[2011,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Gaucher disease (GD) is an autosomal recessive disorder characterized by defective function of glucocerebrosidase. GD presents a wide spectrum of manifestations, and patients and their relatives may develop neurological abnormalities more frequently than the general population. This study aims to determine the presence of neurological symptoms (NS) and Parkinson's disease (PD) in Spanish GD patients and their relatives. We surveyed 87 GD Spanish families and validated the information obtained on the neurological involvement through their physicians, as well as the historical data included in the Spanish Gaucher Disease Registry. Neurological abnormalities were correlated with the genetic characteristics. Statistical analyses included descriptive parameters, ANOVA, t\u2010test, correlation study and Pearson coefficient. Information was obtained from 118 patients and 324 relatives. Out of 110 patients with type 1 GD, 32 (29.1%) reported NS and 7 (6.4%) had PD. In relatives, a total of 39 (13.1%) subjects had NS, including 16 with PD (5.3%). The prevalence of NS in genetic carriers (15.9%) was greater than that in non\u2010carriers (5.9%; <jats:italic>p<\/jats:italic> &lt;\u20090.01). Patients with PD carried the following GBA mutations: S364R, D409H, L444P, R257Q, IVS4\u20102A\u2009&gt; G, c.500insT, and L336P. Relatives with PD exhibited a wide spectrum of mutations: L444P, N370S, V398I, R257Q, G202R, c.1439\u20101445del7, [E326K; N188S], and c.953delT. We observed a high incidence of PD in type 1 GD and relative's carriers. PD was more frequent in carriers of L444P and other rare GBA mutations. Therefore, it is important to perform a systematic neurological exam in patients with type 1 GD and carriers with high risk mutations.<\/jats:p>","DOI":"10.1007\/s10545-011-9298-4","type":"journal-article","created":{"date-parts":[[2011,3,8]],"date-time":"2011-03-08T09:48:28Z","timestamp":1299577708000},"page":"781-787","source":"Crossref","is-referenced-by-count":14,"title":["Neurological manifestations in patients with Gaucher disease and their relatives, it is just a coincidence?"],"prefix":"10.1002","volume":"34","author":[{"given":"Pilar","family":"Giraldo","sequence":"first","affiliation":[{"name":"Hematology Department Miguel Servet University Hospital P\u00ba Isabel La Cat\u00f3lica 1\u20103 Zaragoza 50009 Spain"},{"name":"Instituto Aragon\u00e9s de Ciencias de la Salud (I+CS) Zaragoza Spain"},{"name":"Centro de Investigaci\u00f3n Biom\u00e9dica En Red de Enfermedades Raras (CIBERER), ISCIII Zaragoza Spain"},{"name":"Traslational Research Unit Miguel Servet University Hospital Zaragoza Spain"},{"name":"FEETEG Zaragoza Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jose Luis","family":"Capablo","sequence":"additional","affiliation":[{"name":"Neurology Department Miguel Servet University Hospital Zaragoza Spain"},{"name":"Centro de Investigaci\u00f3n Biom\u00e9dica En Red de Enfermedades Raras (CIBERER), ISCIII Zaragoza Spain"},{"name":"FEETEG Zaragoza Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pilar","family":"Alfonso","sequence":"additional","affiliation":[{"name":"Instituto Aragon\u00e9s de Ciencias de la Salud (I+CS) Zaragoza Spain"},{"name":"Centro de Investigaci\u00f3n Biom\u00e9dica En Red de Enfermedades Raras (CIBERER), ISCIII Zaragoza Spain"},{"name":"Traslational Research Unit Miguel Servet University Hospital Zaragoza Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Beatriz","family":"Garcia\u2010Rodriguez","sequence":"additional","affiliation":[{"name":"Traslational Research 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Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Miguel","family":"Pocovi","sequence":"additional","affiliation":[{"name":"Instituto Aragon\u00e9s de Ciencias de la Salud (I+CS) Zaragoza Spain"},{"name":"Centro de Investigaci\u00f3n Biom\u00e9dica En Red de Enfermedades Raras (CIBERER), ISCIII Zaragoza Spain"},{"name":"FEETEG Zaragoza Spain"},{"name":"Biochemistry, Cellular and Molecular Biology Department University of Zaragoza Zaragoza Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2011,3,8]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa033277"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10038-007-0135-4"},{"key":"e_1_2_7_4_1","first-page":"3635","volume-title":"The metabolic and molecular bases of inherited disease","author":"Beutler 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