{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,4]],"date-time":"2026-05-04T13:04:01Z","timestamp":1777899841540,"version":"3.51.4"},"reference-count":15,"publisher":"SAGE Publications","issue":"2","license":[{"start":{"date-parts":[[2014,3,26]],"date-time":"2014-03-26T00:00:00Z","timestamp":1395792000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["Scott Med J"],"published-print":{"date-parts":[[2014,5]]},"abstract":"<jats:sec>\n                    <jats:title>Introduction<\/jats:title>\n                    <jats:p>Gaucher\u2019s disease is a lysosomal storage disorder caused by the deficiency of glucocerebrosidase. Gaucher\u2019s disease has three clinical types: non-neuronopathic (Type 1), Acute Neuropathic (Type 2) and chronic neuronopathic (Type 3). The chronic neuronopathic (Type 3) is characterised by a variety of disease variants with onset in childhood with hepatomegaly, skeletal lesions and later slow horizontal saccades, treatment-resistant generalised tonic\u2013clonic and myoclonic seizures, dementia, progressive spasticity, cognitive deterioration, ataxia and death in the second or third decade of life.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Case presentation<\/jats:title>\n                    <jats:p>We describe a case of a 17-year-old girl who was born normally but subsequently developed treatment-refractory seizures at the age of nine with myoclonus, oculomotor apraxia, ataxia and cognitive decline. Enzyme activity of beta-glucocerebrosidase was found to be low without visceromegaly or bone involvement.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>Screening for lysosomal enzyme activity should be done in patients exhibiting features suggestive of progressive myoclonic epilepsy.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1177\/0036933014529868","type":"journal-article","created":{"date-parts":[[2014,3,26]],"date-time":"2014-03-26T20:42:56Z","timestamp":1395866576000},"page":"e1-e6","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":3,"title":["Chronic neuronopathic type of Gaucher\u2019s disease with progressive myoclonic epilepsy in the absence of visceromegaly and bone involvement"],"prefix":"10.1177","volume":"59","author":[{"given":"Nevein Philip","family":"Botross","sequence":"first","affiliation":[{"name":"Consultant Physician and Lecturer, Clinical School Johor Bahru, Jeffrey Cheah School of Medicine and Health Sciences, Monash University, Johor Bahru, Johor, Malaysia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Amgad Abadir","family":"Riad","sequence":"additional","affiliation":[{"name":"Consultant Physician and Senior Lecturer, Clinical School Johor Bahru, Jeffrey Cheah School of Medicine and Health Sciences, Monash University, Johor Bahru, Johor, Malaysia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shanthi","family":"Viswanathan","sequence":"additional","affiliation":[{"name":"Consultant Neurologist, Department of Neurology, Kuala Lumpur Hospital, Kuala Lumpur, Malaysia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rusli Bin","family":"Nordin","sequence":"additional","affiliation":[{"name":"Professor and Head of the Clinical School, Clinical School Johor Bahru, Jeffrey Cheah School of Medicine and Health Sciences, Monash University, Johor Bahru, Johor, Malaysia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"HN","family":"Lock","sequence":"additional","affiliation":[{"name":"Metabolic and Clinical Genetics Consultant, Department of Genetics, Kuala Lumpur Hospital, Kuala Lumpur, Malaysia"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"179","published-online":{"date-parts":[[2014,3,26]]},"reference":[{"key":"bibr1-0036933014529868","doi-asserted-by":"publisher","DOI":"10.1515\/BC.2008.163"},{"key":"bibr2-0036933014529868","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2141.2004.05351.x"},{"key":"bibr3-0036933014529868","first-page":"3635","volume-title":"The metabolic and molecular bases of inherited disease","author":"Beutler E","year":"2001","edition":"8"},{"key":"bibr4-0036933014529868","first-page":"377","volume":"21","author":"Grabowski GA","year":"1993","journal-title":"Adv Hum 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