{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,8]],"date-time":"2026-07-08T02:32:24Z","timestamp":1783477944944,"version":"3.55.0"},"reference-count":55,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2010,5,21]],"date-time":"2010-05-21T00:00:00Z","timestamp":1274400000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Movement Disorders"],"published-print":{"date-parts":[[2010,7,30]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Among the genes implicated for parkinsonism is glucocerebrosidase (GBA), which causes Gaucher disease (GD). Despite a growing literature that GD may present as parkinsonism, neuroimaging, olfaction, and neuropsychological testing have not been extensively reported. We describe transcranial sonography (TCS), 18F\u2010fluorodopa (F\u2010dopa) and fluorodeoxyglucose (FDG) Positron emission tomography, olfaction testing, neuropsychological testing, and clinical features in homozygous and compound heterozygous GBA mutation carriers identified through screening of 250 Ashkenazi Jewish parkinsonian individuals treated at a tertiary care center. We identified two individuals with N370S\/R496H compound heterozygous mutations and two with N370S homozygous mutations; one individual died before completing detailed evaluation. TCS (n = 3) demonstrated nigral hyperechogenicity that was greater than controls [median area maximal substantia nigra echogenicity (aSNmax) = 0.28 cm<jats:sup>2<\/jats:sup> vs. 0.14 cm<jats:sup>2<\/jats:sup>, <jats:italic>P<\/jats:italic> = 0.005], but similar to idiopathic PD (aSNmax = 0.31 cm<jats:sup>2<\/jats:sup>). FDG PET (n = 2) demonstrated hypermetabolism of the lentiform nuclei, and F\u2010fluorodopa PET (n = 2), bilateral reduction in striatal F\u2010dopa uptake. Olfaction was markedly impaired in the two tested cases, including onset of smell disturbance in adolescence in one. Neuropsychological features (n = 3) were consistent with Parkinson's disease (PD) or diffuse Lewy body disease (DLB). The imaging, neuropsychological and olfactory markers suggest the GD phenotype includes PD with and without features of DLB, marked olfactory loss, nigral hyperechogenicity on TCS, and F\u2010dopa and FDG PET abnormalities. \u00a9 2010 Movement Disorder Society<\/jats:p>","DOI":"10.1002\/mds.23046","type":"journal-article","created":{"date-parts":[[2010,5,25]],"date-time":"2010-05-25T10:18:38Z","timestamp":1274782718000},"page":"1364-1372","source":"Crossref","is-referenced-by-count":79,"title":["Gaucher disease ascertained through a Parkinson's center: Imaging and clinical 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