1. Dopaminergic Neuronal Imaging in Genetic Parkinson's Disease: Insights into Pathogenesis
- Author
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Oswaldo Lorenzo-Betancor, Andrea Varrone, Henry Houlden, Pau Pastor, Paolo Barone, Orlando Graziani Povoas Barsottini, Thomas Foltynie, José Matías Arbelo, Marcelo Q. Hoexter, Giovanni Cossu, André Carvalho Felício, Kailash P. Bhatia, Joanna Herrera, Alisdair McNeill, Vincenzo Bonifati, Concepcion Isla, Sabina Pappatà, Anthony H.V. Schapira, Ruey-Meei Wu, Patricia de Carvalho Aguiar, Niccolo E. Mencacci, Maria Teresa Pellecchia, Henrique Ballalai Ferraz, Kai-Yuan Tzen, Pietro Cortelli, Rodrigo A. Bressan, Laura Silveria-Moriyama, Sevasti Bostantjopoulou, Andrew J. Lees, A. McNeill, R. Wu, K. Tzen, P. C. Aguiar, J. M. Arbelo, P. Barone, K. Bhatia, O. Barsottini, V. Bonifati, S. Bostantjopoulou, R. Bressan, G. Cossu, P. Cortelli, A. Felicio, H. B. Ferraz, J. Herrera, H. Houlden, M. Hoexter, C. Isla, A. Lee, O. Lorenzo-Betancor, N. E. Mencacci, P. Pastor, S. Pappata, M. T. Pellecchia, L. Silveria-Moriyama, A. Varrone, T. Foltynie, A. H. V, Clinical Genetics, UCL, Birmingham Womens Hosp, Natl Taiwan Univ Hosp, Hosp Israelita Albert Einstein, Hosp Univ Insular Gran Canaria, Univ Salerno, Universidade Federal de São Paulo (UNIFESP), Erasmus MC, Aristotle Univ Thessaloniki, Gen Hosp S Michele AOB G Brotzu, Univ Bologna, UCL Inst Neurol, Univ Navarra, CNR, and Karolinska Inst
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Male ,Pathology ,Parkinson's disease ,Caudate nucleus ,lcsh:Medicine ,pathology, Female, Genotype, Humans, Male, Neuroimaging, Parkinson Disease ,genetics/pathology, Positron-Emission Tomography, Putamen ,Parkin ,Diagnostic Radiology ,Cohort Studies ,pathology, Cohort Studies, Demography, Dopamine Plasma Membrane Transport Protein ,chemistry.chemical_compound ,0302 clinical medicine ,Autosomal Recessive ,Medicine ,lcsh:Science ,Neuropathology ,0303 health sciences ,Movement Disorders ,Multidisciplinary ,Putamen ,Parkinson Disease ,LRRK2 ,Neurology ,Autosomal Dominant ,Female ,Radiology ,Research Article ,Adult ,medicine.medical_specialty ,Genotype ,Neuroimaging ,PINK1 ,03 medical and health sciences ,Diagnostic Medicine ,Humans ,Demography ,030304 developmental biology ,Clinical Genetics ,Tomography, Emission-Computed, Single-Photon ,Alpha-synuclein ,Dopamine Plasma Membrane Transport Proteins ,metabolism, Dopaminergic Neuron ,business.industry ,Dopaminergic Neurons ,lcsh:R ,Personalized Medicine ,medicine.disease ,nervous system diseases ,chemistry ,Anatomical Pathology ,Positron-Emission Tomography ,lcsh:Q ,Emission-Computed ,Nuclear Medicine ,Caudate Nucleus ,Adult, Caudate Nucleu ,pathology, Tomography ,business ,Neuroscience ,Glucocerebrosidase ,030217 neurology & neurosurgery ,Single-Photon - Abstract
Wellcome Trust/MRC Joint Call in Neurodegeneration award United Kingdom Medical Research Council Wellcome Trust Parkinson's Disease UK Kattan Trust Objectives: To compare the dopaminergic neuronal imaging features of different subtypes of genetic Parkinson's Disease.Methods: A retrospective study of genetic Parkinson's diseases cases in which DaTSCAN (123I-FP-CIT) had been performed. Specific non-displaceable binding was calculated for bilateral caudate and putamen for each case. the right: left asymmetry index and striatal asymmetry index was calculated.Results: Scans were available from 37 cases of monogenetic Parkinson's disease (7 glucocerebrosidase (GBA) mutations, 8 alpha-synuclein, 3 LRRK2, 7 PINK1, 12 Parkin). the asymmetry of radioligand uptake for Parkinson's disease with GBA or LRRK2 mutations was greater than that for Parkinson's disease with alpha synuclein, PINK1 or Parkin mutations.Conclusions: the asymmetry of radioligand uptake in Parkinsons disease associated with GBA or LRRK2 mutations suggests that interactions with additional genetic or environmental factors may be associated with dopaminergic neuronal loss. UCL, Dept Clin Neurosci, Inst Neurol, London, England Birmingham Womens Hosp, Reg Genet Unit, Dept Clin Genet, Birmingham, W Midlands, England Natl Taiwan Univ Hosp, Coll Med, Dept Neurol, Taipei, Taiwan Natl Taiwan Univ Hosp, Coll Med, Dept Nucl Med, Taipei, Taiwan Hosp Israelita Albert Einstein, Inst Israelita Ensino & Pesquisa Albert Einstein, São Paulo, Brazil Hosp Univ Insular Gran Canaria, Dept Neurol, Parkinsons & Movement Disorders Unit, Las Palmas Gran Canaria, Spain Univ Salerno, Ctr Neurodegenerat Dis, Salerno, Fisciano Provin, Italy UCL, Inst Neurol, Sobell Dept Motor Sci, London, England Universidade Federal de São Paulo, Dept Neurol, São Paulo, Brazil Erasmus MC, Dept Clin Genet, Rotterdam, Netherlands Aristotle Univ Thessaloniki, G Papanikolaou Hosp, Dept Neurol 3, GR-54006 Thessaloniki, Greece Gen Hosp S Michele AOB G Brotzu, Neurol Serv, Cagliari, Italy Gen Hosp S Michele AOB G Brotzu, Stroke Unit, Cagliari, Italy Univ Bologna, Dept Biomed & Neuromotor Sci, Bologna, Italy Universidade Federal de São Paulo UNIFESP, EPM, Div Movement Disorders, São Paulo, Brazil UCL Inst Neurol, Dept Mol Neurosci, London, England Univ Navarra, Div Neurosci, Ctr Appl Med Res, Neurogenet Lab, E-31080 Pamplona, Spain CNR, Inst Biostruct & Bioimaging, I-80125 Naples, Italy Karolinska Inst, Ctr Psychiat Res, Dept Clin Neurosci, Stockholm, Sweden Universidade Federal de São Paulo, Dept Neurol, São Paulo, Brazil Universidade Federal de São Paulo UNIFESP, EPM, Div Movement Disorders, São Paulo, Brazil Wellcome Trust/MRC Joint Call in Neurodegeneration award: WT089698 United Kingdom Medical Research Council: G1001983 Web of Science
- Published
- 2013
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