Movement Disorders (revue)

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Olfactory Dysfunction in Parkinsonism Caused by PINK1 Mutations

Identifieur interne : 000D76 ( PascalFrancis/Checkpoint ); précédent : 000D75; suivant : 000D77

Olfactory Dysfunction in Parkinsonism Caused by PINK1 Mutations

Auteurs : Alessandro Ferraris [Italie] ; Tamara Ialongo [Italie] ; Giulio Cesare Passali [Italie] ; Maria Teresa Pellecchia [Italie] ; Livia Brusa [Italie] ; Marianna Laruffa [Italie] ; Arianna Guidubaldi [Italie] ; Gaetano Paludetti [Italie] ; Alberto Albanese [Italie] ; Paolo Barone [Italie] ; Bruno Dallapiccola [Italie] ; Enza Maria Valente [Italie] ; Anna Rita Bentivoglio [Italie]

Source :

RBID : Pascal:10-0071259

Descripteurs français

English descriptors

Abstract

Hyposmia is a common nonmotor feature of Parkinson's disease (PD) and has been variably detected in monogenic Parkinsonisms. To assess olfactory dysfunction in PINK1-related Parkinsonism, we evaluated olfactory detection threshold, odor discrimination, and odor identification in five groups of subjects: sporadic PD (n = 19), PINK1 homozygous (n = 7), and heterozygous (n = 6) parkinsonian patients, asymptomatic PINK1 heterozygous carriers (n = 12), and Italian healthy subjects (n = 67). All affected subjects and all healthy heterozygotes but one resulted hyposmic, with most patients in the range of functional anosmia or severe hyposmia. Detection threshold was more preserved and discrimination more impaired in patients with PINK1 mutations than in PD cases. Alterations of detection and discrimination were observed also in PINK1 asymptomatic heterozygotes. On the contrary, odor identification appeared to be mostly related to the disease status, as it was impaired in nearly all patients (including PD and PINK1 cases) and preserved in healthy heterozygotes. Our data indicate that olfactory dysfunction is common in PINK1 Parkinsonism and consists typically in defective odor identification and discrimination. A milder olfactory deficit, mostly involving discrimination, can be found in asymptomatic heterozygotes, possibly indicating an underlying preclinical neurodegenerative process.


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Pascal:10-0071259

Le document en format XML

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<title xml:lang="en" level="a">Olfactory Dysfunction in Parkinsonism Caused by PINK1 Mutations</title>
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<name sortKey="Valente, Enza Maria" sort="Valente, Enza Maria" uniqKey="Valente E" first="Enza Maria" last="Valente">Enza Maria Valente</name>
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<s1>CSS-Mendel Institute, Casa Sollievo della Sofferenza Hospital</s1>
<s2>Rome</s2>
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<inist:fA14 i1="08">
<s1>Department of Medical and Surgical Pediatric Sciences, University of Messina</s1>
<s2>Messina</s2>
<s3>ITA</s3>
<sZ>12 aut.</sZ>
</inist:fA14>
<country>Italie</country>
<wicri:noRegion>Messina</wicri:noRegion>
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</author>
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<name sortKey="Bentivoglio, Anna Rita" sort="Bentivoglio, Anna Rita" uniqKey="Bentivoglio A" first="Anna Rita" last="Bentivoglio">Anna Rita Bentivoglio</name>
<affiliation wicri:level="3">
<inist:fA14 i1="03">
<s1>Institute of Neurology, Catholic University</s1>
<s2>Rome</s2>
<s3>ITA</s3>
<sZ>2 aut.</sZ>
<sZ>7 aut.</sZ>
<sZ>13 aut.</sZ>
</inist:fA14>
<country>Italie</country>
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<settlement type="city">Rome</settlement>
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<term>Mutation</term>
<term>Nervous system diseases</term>
<term>Olfaction</term>
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<div type="abstract" xml:lang="en">Hyposmia is a common nonmotor feature of Parkinson's disease (PD) and has been variably detected in monogenic Parkinsonisms. To assess olfactory dysfunction in PINK1-related Parkinsonism, we evaluated olfactory detection threshold, odor discrimination, and odor identification in five groups of subjects: sporadic PD (n = 19), PINK1 homozygous (n = 7), and heterozygous (n = 6) parkinsonian patients, asymptomatic PINK1 heterozygous carriers (n = 12), and Italian healthy subjects (n = 67). All affected subjects and all healthy heterozygotes but one resulted hyposmic, with most patients in the range of functional anosmia or severe hyposmia. Detection threshold was more preserved and discrimination more impaired in patients with PINK1 mutations than in PD cases. Alterations of detection and discrimination were observed also in PINK1 asymptomatic heterozygotes. On the contrary, odor identification appeared to be mostly related to the disease status, as it was impaired in nearly all patients (including PD and PINK1 cases) and preserved in healthy heterozygotes. Our data indicate that olfactory dysfunction is common in PINK1 Parkinsonism and consists typically in defective odor identification and discrimination. A milder olfactory deficit, mostly involving discrimination, can be found in asymptomatic heterozygotes, possibly indicating an underlying preclinical neurodegenerative process.</div>
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