{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,22]],"date-time":"2026-09-22T02:22:51Z","timestamp":1790043771641,"version":"4.0.1"},"reference-count":19,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2010,1,19]],"date-time":"2010-01-19T00:00:00Z","timestamp":1263859200000},"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":[[2010,8]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Objective<\/jats:title>\n                    <jats:p>To describe demographic, genetic, and clinical characteristics of patients with neuronopathic Gaucher disease (NGD).<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>All patients enrolled in the Neurological Outcomes Subregistry of the International Collaborative Gaucher Group (ICGG) Gaucher Registry as of June 2007 were identified.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>The study cohort comprised 131 patients from 17 countries who were enrolled in the Neurological Outcomes Subregistry. The onset of neurological manifestations had occurred before 2 years of age in 47% (61 out of 131 patients), 2 years of age or older in 41% (54 out of 131), and could not be ascertained in the remaining 12% (16 out of 131). The most common manifestations were inability to look to the extreme up or down (45%, 55 out of 123), abnormally slow object tracking (43%, 53 out of 123), convergent squint (36%, 44 out of 121), and ataxia (15 to 20%, 18\u201327 out of 117). Seizures were reported in 19 out of 122 patients (16%), and myoclonic seizures were reported in 3 out of 121 patients (2%). The most common genotypes were L444P\/L444P (76 out of 108, 70%), L444P\/D409H (9 out of 108, 8%), D409H\/D409H (8 out of 108, 7%), and L444P\/rare allele (6 out of 108, 6%); full sequencing was not performed in all patients.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>Neurological manifestations of GD often begin to appear before the age of 2 years. The most common neurological signs and manifestations are brainstem abnormalities and fine motor dysfunction. The most common genotype is L444P\/L444P.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1007\/s10545-009-9009-6","type":"journal-article","created":{"date-parts":[[2010,1,18]],"date-time":"2010-01-18T07:29:03Z","timestamp":1263799743000},"page":"339-346","source":"Crossref","is-referenced-by-count":124,"title":["Neuronopathic Gaucher disease: demographic and clinical features of 131 patients enrolled in the International Collaborative Gaucher Group Neurological Outcomes Subregistry"],"prefix":"10.1002","volume":"33","author":[{"given":"Anna","family":"Tylki\u2010Szyma\u0144ska","sequence":"first","affiliation":[{"name":"Clinic of Metabolic Diseases, Endocrinology and Diabetology The Children's Memorial Health Institute Al. Dzieci Polskich 20 Warsaw 04 736 Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ashok","family":"Vellodi","sequence":"additional","affiliation":[{"name":"Great Ormond Street Children's Hospital NHS Trust London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amal","family":"El\u2010Beshlawy","sequence":"additional","affiliation":[{"name":"Pediatric Hospital of Cairo University Cairo Egypt"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J. Alexander","family":"Cole","sequence":"additional","affiliation":[{"name":"Biostatistics\/Epidemiology, Biomedical Data Sciences and Informatics, Genzyme Corporation Cambridge MA USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Edwin","family":"Kolodny","sequence":"additional","affiliation":[{"name":"New York University School of Medicine New York NY USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2010,1,19]]},"reference":[{"key":"e_1_2_6_2_1","volume-title":"The metabolic and molecular bases of inherited disease","author":"Beutler E","year":"1995"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1001\/archinte.160.18.2835"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2007.00769.x"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bcmd.2006.11.003"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-007-0595-x"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00441578"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-006-0121-6"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1651-2227.1986.tb14936.x"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0950-3536(97)80035-2"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1023\/A:1022553819241"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1097\/01.mop.0000172702.33128.19"},{"key":"e_1_2_6_13_1","volume-title":"Chapter 146.1. 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