Olfactory deficits and cardiac 123I-MIBG in Parkinson's disease related to the LRRK2 R1441G and G2019S mutations

Movement Disorders

Volumn 26, Issue 11, 2011, Pages 2026-2031

  Ruiz Martínez, Javier ^a,b   Gorostidi, Ana ^a   Goyenechea, Estibaliz ^a   Alzualde, Ainhoa ^a   Poza, Juan José ^a   Rodríguez, Francisco ^c   Bergareche, Alberto ^a   Moreno, Fermín ^a   López de Munain, Adolfo ^a   Martí Massó, José F ^a  

^a HOSPITAL DONOSTIA   (Spain)

^b CENTRO DE INVESTIGACIÓN BIOMÉDICA EN RED SOBRE ENFERMEDADES NEURODEGENERATIVAS CIBERNED   (Spain)

^c Nuclear Medicine Department   (Spain)

Author keywords

Dardarin; Hyposmia; LRRK2; Metaiodobenzylguanidine; Parkinson's disease

Indexed keywords

(3 IODOBENZYL)GUANIDINE I 123; LEUCINE RICH REPEAT KINASE 2;

AGED; ARTICLE; BRIEF SMELL IDENTIFICATION TEST; CLINICAL ASSESSMENT TOOL; FEMALE; GENE; GENE MUTATION; GENETIC SCREENING; HEART SCINTISCANNING; HETEROZYGOTE; HUMAN; HYPOSMIA; MAJOR CLINICAL STUDY; MALE; MEDIASTINUM; PARKINSON DISEASE; PRIORITY JOURNAL; SMELLING DISORDER; SYMPATHETIC FUNCTION;

3-IODOBENZYLGUANIDINE; AGED; COHORT STUDIES; DNA MUTATIONAL ANALYSIS; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HEART; HUMANS; MALE; MIDDLE AGED; MUTATION; MYOCARDIAL PERFUSION IMAGING; OLFACTION DISORDERS; PARKINSON DISEASE; PROTEIN-SERINE-THREONINE KINASES; RADIOPHARMACEUTICALS; TASTE;

EID: 80052962219     PISSN: 08853185     EISSN: 15318257     Source Type: Journal    
DOI: 10.1002/mds.23773     Document Type: Article

References (38)

1. Olanow CW, Stern MB, Sethi K. The scientific and clinical basis for the treatment of Parkinson disease. Neurology 2009; 72: S1-S136.
2. Iwanaga K, Wakabayashi K, Yoshimoto M, et al. Lewy body-type degeneration in cardiac plexus in Parkinson's and incidental Lewy body diseases. Neurology 1999; 52: 1269-1271.
3. Braak H, Del TK, Rub U, et al. Staging of brain pathology related to sporadic Parkinson's disease. Neurobiol Aging 2003; 24: 197-211.
4. Doty RL, Stern MB, Pfeiffer C, Gollomp SM, Hurtig HI. Bilateral olfactory dysfunction in early stage treated and untreated idiopathic Parkinson's disease. J Neurol Neurosurg Psychiatry 1992; 55: 138-142.
5. Spiegel J, Mollers MO, Jost WH, et al. FP-CIT and MIBG scintigraphy in early Parkinson's disease. Mov Disord 2005; 20: 552-561.
6. Katzenschlager R, Lees AJ. Olfaction and Parkinson's syndromes: its role in differential diagnosis. Curr Opin Neurol 2004; 17: 417-423.
7. Tissingh G, Berendse HW, Bergmans P, et al. Loss of olfaction in de novo and treated Parkinson's disease: possible implications for early diagnosis. Mov Disord 2001; 16: 41-46.
8. Ross GW, Petrovitch H, Abbott RD, et al. Association of olfactory dysfunction with risk for future Parkinson's disease. Ann Neurol 2008; 63: 167-173.
9. Courbon F, Brefel-Courbon C, Thalamas C, et al. Cardiac MIBG scintigraphy is a sensitive tool for detecting cardiac sympathetic denervation in Parkinson's disease. Mov Disord 2003; 18: 890-897.
10. Goldstein DS, Holmes CS, Dendi R, Bruce SR, Li ST. Orthostatic hypotension from sympathetic denervation in Parkinson's disease. Neurology 2002; 58: 1247-1255.
11. Yoshita M, Taki J, Yamada M. A clinical role for [(123)I]MIBG myocardial scintigraphy in the distinction between dementia of the Alzheimer's-type and dementia with Lewy bodies. J Neurol Neurosurg Psychiatry 2001; 71: 583-588.
12. Spiegel J, Hellwig D, Farmakis G, et al. Myocardial sympathetic degeneration correlates with clinical phenotype of Parkinson's disease. Mov Disord 2007; 22: 1004-1008.
13. Oka H, Yoshioka M, Onouchi K, et al. Impaired cardiovascular autonomic function in Parkinson's disease with visual hallucinations. Mov Disord 2007; 22: 1510-1514.
14. Braune S. The role of cardiac metaiodobenzylguanidine uptake in the differential diagnosis of parkinsonian syndromes. Clin Auton Res 2001; 11: 351-355.
15. Nagayama H, Hamamoto M, Ueda M, Nagashima J, Katayama Y. Reliability of MIBG myocardial scintigraphy in the diagnosis of Parkinson's disease. J Neurol Neurosurg Psychiatry 2005; 76: 249-251.
16. Siderowf A, Stern MB. Preclinical diagnosis of Parkinson's disease: are we there yet? Curr Neurol Neurosci Rep 2006; 6: 295-301.
17. Kachergus J, Mata IF, Hulihan Mm et al. Identification of a novel LRRK2 mutation linked to autosomal dominant parkinsonism: evidence of a common founder across European populations. Am J Hum Genet 2005; 76: 672-680.
18. Paisan-Ruiz C, Jain S, Evans EW et al. Cloning of the gene containing mutations that cause PARK8-linked Parkinson's disease. Neuron 2004; 44: 595-600.
19. Gorostidi A, Ruiz-Martinez J, de Munain AL, et al. LRRK2 G2019S and R1441G mutations associated with Parkinson's disease are common in the Basque Country, but relative prevalence is determined by ethnicity. Neurogenetics 2009; 10: 157-159.
20. Berg D, Schweitzer K, Leitner P, et al. Type and frequency of mutations in the LRRK2 gene in familial and sporadic Parkinson's disease. Brain 2005; 128: 3000-3011.
21. Quattrone A, Bagnato A, Annesi G, et al. Myocardial 123metaiodobenzylguanidine uptake in genetic Parkinson's disease. Mov Disord 2008; 23: 21-27.
22. Tomiyama H, Li Y, Funayama M, et al. Clinicogenetic study of mutations in LRRK2 exon 41 in Parkinson's disease patients from 18 countries. Mov Disord 2006; 21: 1102-1108.
23. Gelb DJ, Oliver E, Gilman S. Diagnostic criteria for Parkinson disease. Arch Neurol 1999; 56: 33-39.
24. Solanki KK, Bomanji J, Moyes J, et al. A pharmacological guide to medicines which interfere with the biodistribution of radiolabelled meta-iodobenzylguanidine (MIBG). Nucl Med Commun 1992; 13: 513-521.
25. Iijima M, Osawa M, Momose M, et al. Cardiac sympathetic degeneration correlates with olfactory function in Parkinson's disease. Mov Disord 2010; 25: 1143-1149.
26. Ishibashi K, Saito Y, Murayama S, et al. Validation of cardiac (123)I-MIBG scintigraphy in patients with Parkinson's disease who were diagnosed with dopamine PET. Eur J Nucl Med Mol Imaging 2010; 37: 3-11.
27. Healy DG, Falchi M, O'sullivan SS et al. Phenotype, genotype, and worldwide genetic penetrance of LRRK2-associated Parkinson's disease: a case-control study. Lancet Neurol 2008; 7: 583-590.
28. Markopoulou K, Larsen KW, Wszolek EK, et al. Olfactory dysfunction in familial parkinsonism. Neurology 1997; 49: 1262-1267.
29. Khan NL, Jain S, Lynch JM, et al. Mutations in the gene LRRK2 encoding dardarin (PARK8) cause familial Parkinson's disease: clinical, pathological, olfactory and functional imaging and genetic data. Brain 2005; 128: 2786-2796.
30. Silveira-Moriyama L, Guedes LC, Kingsbury A, et al. Hyposmia in G2019S LRRK2-related parkinsonism: clinical and pathologic data. Neurology 2008; 71: 1021-1026
31. Ferreira JJ, Guedes LC, Rosa MM, et al. High prevalence of LRRK2 mutations in familial and sporadic Parkinson's disease in Portugal. Mov Disord 2007; 22: 1194-201
32. Bostantjopoulou S, Katsarou Z, Papadimitriou A, et al. Clinical features of parkinsonian patients with the alpha-synuclein (G209A) mutation. Mov Disord 2001; 17: 847-848
33. Haehner A, Hummel T, Hummel C, et al. Olfactory loss may be a sign of idiopathic Parkinson's disease. Mov Disord 2007; 22: 839-842
34. Bloch A, Probst A, Bissig H, Adams H, Tolnay M. Alpha-synuclein pathology of the spinal and peripheral autonomic nervous system in neurologically unimpaired elderly subjects. Neuropathol Appl Neurobiol 2006; 32: 284-295.
35. Santpere G, Ferrer I. LRRK2 and neurodegeneration. Acta Neuropathol 2009; 117: 227-246.
36. Suzuki M, Hattori N, Orimo S, et al. Preserved myocardial [123I]metaiodobenzylguanidine uptake in autosomal recessive juvenile parkinsonism: first case report. Mov Disord 2005; 20: 634-636.
37. Marti-Masso JF, Ruiz-Martinez J, Bolano MJ, et al. Neuropathology of Parkinson's disease with the R1441G mutation in LRRK2. Mov Disord 2009; 24: 1998-2001.
38. Klein C, Lohmann-Hedrich K. Impact of recent genetic findings in Parkinson's disease. Curr Opin Neurol 2007; 20: 453-464.