Gaucher disease ascertained through a Parkinson's center: Imaging and clinical characterization |
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| Authors: | Rachel Saunders‐Pullman MD MPH MS Johann Hagenah MD Vijay Dhawan MD Kaili Stanley BS Gregory Pastores MD Swati Sathe MD Michele Tagliati MD Kelly Condefer MD Christina Palmese PhD Norbert Brüggemann MD Christine Klein MD AM Roe MD Ruth Kornreich PhD Laurie Ozelius PhD Susan Bressman MD |
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| Institution: | 1. Department of Neurology, Beth Israel Medical Center, New York, New York, USA;2. Department of Neurology, Albert Einstein College of Medicine, Bronx, New York, USA;3. Department of Neurology, University of Luebeck, Luebeck, Germany;4. Feinstein Institute for Medical Research, Manhasset, New York, USA;5. Department of Neurology, New York University School of Medicine, New York, New York, USA;6. Department of Neurology, Mount Sinai School of Medicine, New York, New York, USA;7. Department of Obstetrics and Gynecology, Albert Einstein College of Medicine, Bronx, New York, USA;8. Department of Genetics and Genomic Sciences, Mount Sinai School of Medicine, New York, New York, USA |
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| Abstract: | 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‐fluorodopa (F‐dopa) 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 cm2 vs. 0.14 cm2, P = 0.005], but similar to idiopathic PD (aSNmax = 0.31 cm2). FDG PET (n = 2) demonstrated hypermetabolism of the lentiform nuclei, and F‐fluorodopa PET (n = 2), bilateral reduction in striatal F‐dopa 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‐dopa and FDG PET abnormalities. © 2010 Movement Disorder Society |
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| Keywords: | Parkinson's disease Gaucher disease glucocerebrosidase mutations transcranial sonography functional imaging olfaction |
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