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M. J. Barrett, J. Hagenah, V. Dhawan, S. Peng, K. Stanley, D

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Presentation on theme: "M. J. Barrett, J. Hagenah, V. Dhawan, S. Peng, K. Stanley, D"— Presentation transcript:

1 Transcranial sonography and functional imaging in glucocerebrosidase mutation Parkinson disease 
M.J. Barrett, J. Hagenah, V. Dhawan, S. Peng, K. Stanley, D. Raymond, A. Deik, S.J. Gross, N. Schreiber-Agus, A. Mirelman, K. Marder, L.J. Ozelius, D. Eidelberg, S.B. Bressman, R. Saunders-Pullman  Parkinsonism & Related Disorders  Volume 19, Issue 2, Pages (February 2013) DOI: /j.parkreldis Copyright © 2012 Elsevier Ltd Terms and Conditions

2 Fig. 1 Representative transcranial sonography images for control and PD subjects. Transcranial sonography images of midbrain through the preauricular bone window. The ipsilateral echogenic substantia nigral area is encircled with a yellow line for a control subject (A), a PD subject with a heterozygous GBA mutation without a LRRK2 mutation (B), a PD subject with a LRRK2 mutation without a GBA mutation (C), and a PD subject without a GBA or LRRK2 mutation (D). (For interpretation of the references to color in this figure legend, the reader is referred to the web version of this article.) Parkinsonism & Related Disorders  , DOI: ( /j.parkreldis ) Copyright © 2012 Elsevier Ltd Terms and Conditions

3 Fig. 2 aSNmax of PD subjects by GBA/LRRK2 status and controls. Bracket limits represent the 25th and 75th percentiles of the range of aSNmax values for each group. Abbreviations: aSNmax = area of maximal substantia nigral echogenicity; PD-GBA single = GBA heterozygotes without LRRK2 mutations; PD-no mutation = subjects without LRRK2 or GBA mutations; PD-LRRK2 = LRRK2 heterozygotes and homozygotes without GBA mutations. Parkinsonism & Related Disorders  , DOI: ( /j.parkreldis ) Copyright © 2012 Elsevier Ltd Terms and Conditions

4 Supplementary Fig. 1 Quantitative results of FDOPA and FDG PET in a subset of PD-GBA single subjects. A, B. Putamen and caudate FDOPA uptake expressed as SOR value in 20 healthy controls, 20 PD controls [31], and 2 PD-GBA single subjects. The dashed lines indicate the uptake value 2 SD below the healthy control mean. C. PDRP derived from FDG PET for 20 healthy controls, 20 PD controls [27,28], and 3 PD-GBA single subjects. Error bars indicate standard deviation of the mean for each cohort. Abbreviations: FDOPA = [18F]-fluorodopa; FDG = [18F]-fluorodeoxyglucose; PET = positron emission tomography; PD = Parkinson disease; PDRP = Parkinson disease-related metabolic covariance pattern; PD-GBA single = Parkinson disease subjects with heterozygous GBA mutations without LRRK2 mutations. Parkinsonism & Related Disorders  , DOI: ( /j.parkreldis ) Copyright © 2012 Elsevier Ltd Terms and Conditions


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