Olfactory heterogeneity in LRRK2 related Parkinsonism

Authors

  • Laura Silveira-Moriyama MD, PhD,

    1. Reta Lila Weston Institute of Neurological Studies, UCL Institute of Neurology, London, United Kingdom
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  • Renato Pupi Munhoz MD,

    1. Movement Disorders Unit, Neurology Service, Internal Medicine Department Hospital de Clínicas, Federal University of Paraná, Curitiba-PR, Brazil
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  • Margarete de J. Carvalho MD,

    1. Department of Neurology, University of Sao Paulo School of Medicine, Sao Paulo-SP, Brazil
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  • Salmo Raskin MD,

    1. Movement Disorders Unit, Neurology Service, Internal Medicine Department Hospital de Clínicas, Federal University of Paraná, Curitiba-PR, Brazil
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  • Ekaterina Rogaeva PhD,

    1. Centre for Research in Neurodegenerative Diseases, University of Toronto, Toronto, Ontario, Canada
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  • Patricia de C. Aguiar MD, PhD,

    1. Instituto do Cérebro - Instituto Israelita de Ensino e Pesquisa Albert Einstein, Hospital Israelita Albert Einstein, São Paulo-SP, Brazil
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  • Rodrigo A. Bressan MD, PhD,

    1. Instituto do Cérebro - Instituto Israelita de Ensino e Pesquisa Albert Einstein, Hospital Israelita Albert Einstein, São Paulo-SP, Brazil
    2. Laboratório Interdisciplinar de Neurosciencias Clínicas - LiNC, Universidade Federal de Sao Paulo, UNIFESP, São Paulo, Brazil
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  • Andre C. Felicio MD,

    1. Instituto do Cérebro - Instituto Israelita de Ensino e Pesquisa Albert Einstein, Hospital Israelita Albert Einstein, São Paulo-SP, Brazil
    2. Laboratório Interdisciplinar de Neurosciencias Clínicas - LiNC, Universidade Federal de Sao Paulo, UNIFESP, São Paulo, Brazil
    3. Department of Neurology and Neurosurgery, Universidade Federal de São Paulo, SP, Brazil
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  • Orlando G.P. Barsottini MD,

    1. Department of Neurology and Neurosurgery, Universidade Federal de São Paulo, SP, Brazil
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  • Luiz Augusto F. Andrade MD,

    1. Instituto do Cérebro - Instituto Israelita de Ensino e Pesquisa Albert Einstein, Hospital Israelita Albert Einstein, São Paulo-SP, Brazil
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  • Hsin F. Chien MD,

    1. Department of Neurology, University of Sao Paulo School of Medicine, Sao Paulo-SP, Brazil
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  • Vincenzo Bonifati MD, PhD,

    1. Department of Clinical Genetics, Erasmus MC, Rotterdam, The Netherlands
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  • Egberto R. Barbosa MD, PhD,

    1. Department of Neurology, University of Sao Paulo School of Medicine, Sao Paulo-SP, Brazil
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  • Helio A. Teive MD,

    1. Movement Disorders Unit, Neurology Service, Internal Medicine Department Hospital de Clínicas, Federal University of Paraná, Curitiba-PR, Brazil
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  • Andrew J. Lees MD

    Corresponding author
    1. Reta Lila Weston Institute of Neurological Studies, UCL Institute of Neurology, London, United Kingdom
    • Reta Lila Weston Institute of Neurological Studies, UCL Institute of Neurology, 1 Wakefield St, London, WC1N 1PJ, United Kingdom
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  • Potential conflict of interest: The authors do not have any conflict of interest.

Abstract

LRRK2 mutations can cause familial and sporadic Parkinson's disease (PD) with Lewy-body pathology at post-mortem. Studies of olfaction in LRRK2 are sparse and incongruent. We applied a previously validated translation of the 16 item smell identification test from Sniffin' Sticks (SS-16) to 14 parkinsonian carriers of heterozygous G2019S LRRK2 mutation and compared with 106 PD patients and 118 healthy controls. The mean SS-16 score in LRRK2 was higher than in PD (p < 0.001, 95% CI for β = −4.7 to −1.7) and lower than in controls (p = 0.007, 95% CI for β = +0.6 to +3.6). In the LRRK2 group, subjects with low scores had significantly more dyskinesia. They also had younger age of onset, longer disease duration, and reported less frequently a family history of PD, but none of these other differences reached significance. Odor identification is diminished in LRRK2 parkinsonism but not to the same extent as in idiopathic PD. © 2010 Movement Disorder Society

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