MovDisordV3, Main, Exploration, bibRecord, 001873

Olfactory Deficits and Cardiac 123I-MIBG in Parkinson's Disease Related to the LRRK2 R1441 G and G2019S Mutations

Identifieur interne : 001873 ( Main/Exploration ); précédent : 001872; suivant : 001874

Olfactory Deficits and Cardiac 123I-MIBG in Parkinson's Disease Related to the LRRK2 R1441 G and G2019S Mutations

Auteurs : Javier Ruiz-Martinez [Espagne] ; Ana Gorostidi [Espagne] ; Estibaliz Goyenechea [Espagne] ; Ainhoa Alzualde [Espagne] ; Juan Jose Poza [Espagne] ; Francisco Rodriguez [Espagne] ; Alberto Bergareche [Espagne] ; Fermín Moreno [Espagne] ; Adolfo Lopez De Munain [Espagne] ; Jose F. Marti Masso [Espagne]

Source :

Movement disorders [ 0885-3185 ] ; 2011.

RBID : Pascal:11-0444614

Descripteurs français

Pascal (Inist)
- Maladie de Parkinson, Trouble de l'odorat, Pathologie du système nerveux, Mutation.

English descriptors

KwdEn :
- Mutation, Nervous system diseases, Olfactory disorder, Parkinson disease.

Abstract

It has been proposed that olfactory tests and metaiodobenzylguanidine cardiac scintigraphy may help diagnose idiopathic Parkinson's disease in the premotor phase. However, it is not clear what value these tests have in all patients with Parkinson's disease and, particularly, in those who carry mutations in LRRK2. The objective was to analyze olfactory dysfunction and the changes in cardiac I-metaiodobenzylguanidine uptake in patients with Parkinson's disease carrying the R1441G and G2019S mutations in LRRK2, and in patients with Parkinson's disease with no known mutations. Patients with Parkinson's disease were screened for R1441G and G2019S LRRK2 gene mutations and classified as LRRK2 mutation carriers or noncarriers. A total of 190 patients with Parkinson's disease (44 LRRK2 mutation carriers) were tested for olfactory dysfunction using the Brief Smell Identification Test. Cardiac ¹²³I-metaiodobenzylguanidine scintigraphy was performed on 90 patients with Parkinson's disease (27 LRRK2 mutation carriers). Thirty-six percent of patients with LRRK2 mutations have hyposmia, compared to 75% of noncarrier patients with Parkinson's disease (P < .001). Sixty-six percent of LRRK2 mutation carriers have low early metaiodobenzylguanidine uptake, compared to 86% of noncarriers (P = .048). Similarly, the heart/mediastinum ratio in delayed metaiodobenzylguanidine images appeared to differ between these groups of patients with Parkinson's disease, although these results did not reach statistical significance. The data obtained indicate that olfactory and cardiac impairment is less prevalent when Parkinson's disease is associated with mutations in LRRK2, although the underlying mechanisms for this difference remain unclear. Thus, such screening would be less useful to detect the premotor phase in asymptomatic relatives who carry mutations in LRRK2 than in cases not associated with LRRK2.

Affiliations:

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Le document en format XML

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I-MIBG in Parkinson's Disease Related to the LRRK2 R1441 G and G2019S Mutations</title>
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<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a">Olfactory Deficits and Cardiac <sup>123</sup>
I-MIBG in Parkinson's Disease Related to the LRRK2 R1441 G and G2019S Mutations</title>
<author><name sortKey="Ruiz Martinez, Javier" sort="Ruiz Martinez, Javier" uniqKey="Ruiz Martinez J" first="Javier" last="Ruiz-Martinez">Javier Ruiz-Martinez</name>
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<author><name sortKey="Lopez De Munain, Adolfo" sort="Lopez De Munain, Adolfo" uniqKey="Lopez De Munain A" first="Adolfo" last="Lopez De Munain">Adolfo Lopez De Munain</name>
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<author><name sortKey="Marti Masso, Jose F" sort="Marti Masso, Jose F" uniqKey="Marti Masso J" first="Jose F." last="Marti Masso">Jose F. Marti Masso</name>
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<series><title level="j" type="main">Movement disorders</title>
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<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Mutation</term>
<term>Nervous system diseases</term>
<term>Olfactory disorder</term>
<term>Parkinson disease</term>
</keywords>
<keywords scheme="Pascal" xml:lang="fr"><term>Maladie de Parkinson</term>
<term>Trouble de l'odorat</term>
<term>Pathologie du   système nerveux</term>
<term>Mutation</term>
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<front><div type="abstract" xml:lang="en">It has been proposed that olfactory tests and metaiodobenzylguanidine cardiac scintigraphy may help diagnose idiopathic Parkinson's disease in the premotor phase. However, it is not clear what value these tests have in all patients with Parkinson's disease and, particularly, in those who carry mutations in LRRK2. The objective was to analyze olfactory dysfunction and the changes in cardiac I-metaiodobenzylguanidine uptake in patients with Parkinson's disease carrying the R1441G and G2019S mutations in LRRK2, and in patients with Parkinson's disease with no known mutations. Patients with Parkinson's disease were screened for R1441G and G2019S LRRK2 gene mutations and classified as LRRK2 mutation carriers or noncarriers. A total of 190 patients with Parkinson's disease (44 LRRK2 mutation carriers) were tested for olfactory dysfunction using the Brief Smell Identification Test. Cardiac <sup>123</sup>
I-metaiodobenzylguanidine scintigraphy was performed on 90 patients with Parkinson's disease (27 LRRK2 mutation carriers). Thirty-six percent of patients with LRRK2 mutations have hyposmia, compared to 75% of noncarrier patients with Parkinson's disease (P < .001). Sixty-six percent of LRRK2 mutation carriers have low early metaiodobenzylguanidine uptake, compared to 86% of noncarriers (P = .048). Similarly, the heart/mediastinum ratio in delayed metaiodobenzylguanidine images appeared to differ between these groups of patients with Parkinson's disease, although these results did not reach statistical significance. The data obtained indicate that olfactory and cardiac impairment is less prevalent when Parkinson's disease is associated with mutations in LRRK2, although the underlying mechanisms for this difference remain unclear. Thus, such screening would be less useful to detect the premotor phase in asymptomatic relatives who carry mutations in LRRK2 than in cases not associated with LRRK2.</div>
</front>
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<affiliations><list><country><li>Espagne</li>
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<tree><country name="Espagne"><noRegion><name sortKey="Ruiz Martinez, Javier" sort="Ruiz Martinez, Javier" uniqKey="Ruiz Martinez J" first="Javier" last="Ruiz-Martinez">Javier Ruiz-Martinez</name>
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<name sortKey="Alzualde, Ainhoa" sort="Alzualde, Ainhoa" uniqKey="Alzualde A" first="Ainhoa" last="Alzualde">Ainhoa Alzualde</name>
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<name sortKey="Goyenechea, Estibaliz" sort="Goyenechea, Estibaliz" uniqKey="Goyenechea E" first="Estibaliz" last="Goyenechea">Estibaliz Goyenechea</name>
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<name sortKey="Moreno, Fermin" sort="Moreno, Fermin" uniqKey="Moreno F" first="Fermín" last="Moreno">Fermín Moreno</name>
<name sortKey="Poza, Juan Jose" sort="Poza, Juan Jose" uniqKey="Poza J" first="Juan Jose" last="Poza">Juan Jose Poza</name>
<name sortKey="Rodriguez, Francisco" sort="Rodriguez, Francisco" uniqKey="Rodriguez F" first="Francisco" last="Rodriguez">Francisco Rodriguez</name>
<name sortKey="Ruiz Martinez, Javier" sort="Ruiz Martinez, Javier" uniqKey="Ruiz Martinez J" first="Javier" last="Ruiz-Martinez">Javier Ruiz-Martinez</name>
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   |wiki=    Wicri/Santé
   |area=    MovDisordV3
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   |clé=     Pascal:11-0444614
   |texte=   Olfactory Deficits and Cardiac 123I-MIBG in Parkinson's Disease Related to the LRRK2 R1441 G and G2019S Mutations
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	Movement Disorders (revue)
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Movement Disorders (revue)

Olfactory Deficits and Cardiac 123I-MIBG in Parkinson's Disease Related to the LRRK2 R1441 G and G2019S Mutations

Olfactory Deficits and Cardiac 123I-MIBG in Parkinson's Disease Related to the LRRK2 R1441 G and G2019S Mutations

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