MovDisordV3, PascalFrancis, Corpus, bibRecord, 000C63

Olfactory Dysfunction in Parkinsonism Caused by PINK1 Mutations

Identifieur interne : 000C63 ( PascalFrancis/Corpus ); précédent : 000C62; suivant : 000C64

Olfactory Dysfunction in Parkinsonism Caused by PINK1 Mutations

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

Source :

Movement disorders [ 0885-3185 ] ; 2009.

RBID : Pascal:10-0071259

Descripteurs français

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

English descriptors

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

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.

Notice en format standard (ISO 2709)

Pour connaître la documentation sur le format Inist Standard.

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C01	`01`		`ENG`	@0 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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C07	`01`	`X`	`FRE`	`@0 Trouble neurologique @5 38`
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C07	`01`	`X`	`SPA`	`@0 Trastorno neurológico @5 38`
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C07	`02`	`X`	`SPA`	`@0 Encéfalo patología @5 39`
C07	`03`	`X`	`FRE`	`@0 Syndrome extrapyramidal @5 40`
C07	`03`	`X`	`ENG`	`@0 Extrapyramidal syndrome @5 40`
C07	`03`	`X`	`SPA`	`@0 Extrapiramidal síndrome @5 40`
C07	`04`	`X`	`FRE`	`@0 Maladie dégénérative @5 41`
C07	`04`	`X`	`ENG`	`@0 Degenerative disease @5 41`
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Format Inist (serveur)

NO :	PASCAL 10-0071259 INIST
ET :	Olfactory Dysfunction in Parkinsonism Caused by PINK1 Mutations
AU :	FERRARIS (Alessandro); IALONGO (Tamara); PASSALI (Giulio Cesare); PELLECCHIA (Maria Teresa); BRUSA (Livia); LARUFFA (Marianna); GUIDUBALDI (Arianna); PALUDETTI (Gaetano); ALBANESE (Alberto); BARONE (Paolo); DALLAPICCOLA (Bruno); VALENTE (Enza Maria); BENTIVOGLIO (Anna Rita)
AF :	CSS-Mendel Institute, Casa Sollievo della Sofferenza Hospital/Rome/Italie (1 aut., 11 aut., 12 aut.); Department of Experimental Medicine, Sapienza University/Rome/Italie (1 aut., 11 aut.); Institute of Neurology, Catholic University/Rome/Italie (2 aut., 7 aut., 13 aut.); Institute of Otorhinolaryngology, Catholic University/Rome/Italie (3 aut., 6 aut., 8 aut.); Department of Neurological Sciences, University Federico II, and IDC-Herritage-Capodimonte/Naples/Italie (4 aut., 10 aut.); Department of Neurology, Sant'Eugenio Hospital/Rome/Italie (5 aut.); Department of Neurology, Carlo Besta Neurological Institute and Catholic University/Milan/Italie (9 aut.); Department of Medical and Surgical Pediatric Sciences, University of Messina/Messina/Italie (12 aut.)
DT :	Publication en série; Niveau analytique
SO :	Movement disorders; ISSN 0885-3185; Etats-Unis; Da. 2009; Vol. 24; No. 16; Pp. 2350-2357; Bibl. 46 ref.
LA :	Anglais
EA :	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.
CC :	002B17; 002B17G
FD :	Trouble de l'odorat; Parkinsonisme; Maladie de Parkinson; Pathologie du système nerveux; Mutation; Olfaction
FG :	Trouble neurologique; Pathologie de l'encéphale; Syndrome extrapyramidal; Maladie dégénérative; Pathologie du système nerveux central
ED :	Olfactory disorder; Parkinsonism; Parkinson disease; Nervous system diseases; Mutation; Olfaction
EG :	Neurological disorder; Cerebral disorder; Extrapyramidal syndrome; Degenerative disease; Central nervous system disease
SD :	Trastorno olfatorio; Parkinson síndrome; Parkinson enfermedad; Sistema nervioso patología; Mutación; Olfación
LO :	INIST-20953.354000190005540060
ID :	10-0071259

Links to Exploration step

Pascal:10-0071259

Le document en format XML

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<author><name sortKey="Brusa, Livia" sort="Brusa, Livia" uniqKey="Brusa L" first="Livia" last="Brusa">Livia Brusa</name>
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<author><name sortKey="Guidubaldi, Arianna" sort="Guidubaldi, Arianna" uniqKey="Guidubaldi A" first="Arianna" last="Guidubaldi">Arianna Guidubaldi</name>
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<author><name sortKey="Albanese, Alberto" sort="Albanese, Alberto" uniqKey="Albanese A" first="Alberto" last="Albanese">Alberto Albanese</name>
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<author><name sortKey="Barone, Paolo" sort="Barone, Paolo" uniqKey="Barone P" first="Paolo" last="Barone">Paolo Barone</name>
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<author><name sortKey="Dallapiccola, Bruno" sort="Dallapiccola, Bruno" uniqKey="Dallapiccola B" first="Bruno" last="Dallapiccola">Bruno Dallapiccola</name>
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<author><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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<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a">Olfactory Dysfunction in Parkinsonism Caused by PINK1 Mutations</title>
<author><name sortKey="Ferraris, Alessandro" sort="Ferraris, Alessandro" uniqKey="Ferraris A" first="Alessandro" last="Ferraris">Alessandro Ferraris</name>
<affiliation><inist:fA14 i1="01"><s1>CSS-Mendel Institute, Casa Sollievo della Sofferenza Hospital</s1>
<s2>Rome</s2>
<s3>ITA</s3>
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<sZ>11 aut.</sZ>
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<affiliation><inist:fA14 i1="02"><s1>Department of Experimental Medicine, Sapienza University</s1>
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<sZ>1 aut.</sZ>
<sZ>11 aut.</sZ>
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</author>
<author><name sortKey="Ialongo, Tamara" sort="Ialongo, Tamara" uniqKey="Ialongo T" first="Tamara" last="Ialongo">Tamara Ialongo</name>
<affiliation><inist:fA14 i1="03"><s1>Institute of Neurology, Catholic University</s1>
<s2>Rome</s2>
<s3>ITA</s3>
<sZ>2 aut.</sZ>
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<sZ>13 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
<author><name sortKey="Passali, Giulio Cesare" sort="Passali, Giulio Cesare" uniqKey="Passali G" first="Giulio Cesare" last="Passali">Giulio Cesare Passali</name>
<affiliation><inist:fA14 i1="04"><s1>Institute of Otorhinolaryngology, Catholic University</s1>
<s2>Rome</s2>
<s3>ITA</s3>
<sZ>3 aut.</sZ>
<sZ>6 aut.</sZ>
<sZ>8 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
<author><name sortKey="Pellecchia, Maria Teresa" sort="Pellecchia, Maria Teresa" uniqKey="Pellecchia M" first="Maria Teresa" last="Pellecchia">Maria Teresa Pellecchia</name>
<affiliation><inist:fA14 i1="05"><s1>Department of Neurological Sciences, University Federico II, and IDC-Herritage-Capodimonte</s1>
<s2>Naples</s2>
<s3>ITA</s3>
<sZ>4 aut.</sZ>
<sZ>10 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
<author><name sortKey="Brusa, Livia" sort="Brusa, Livia" uniqKey="Brusa L" first="Livia" last="Brusa">Livia Brusa</name>
<affiliation><inist:fA14 i1="06"><s1>Department of Neurology, Sant'Eugenio Hospital</s1>
<s2>Rome</s2>
<s3>ITA</s3>
<sZ>5 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
<author><name sortKey="Laruffa, Marianna" sort="Laruffa, Marianna" uniqKey="Laruffa M" first="Marianna" last="Laruffa">Marianna Laruffa</name>
<affiliation><inist:fA14 i1="04"><s1>Institute of Otorhinolaryngology, Catholic University</s1>
<s2>Rome</s2>
<s3>ITA</s3>
<sZ>3 aut.</sZ>
<sZ>6 aut.</sZ>
<sZ>8 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
<author><name sortKey="Guidubaldi, Arianna" sort="Guidubaldi, Arianna" uniqKey="Guidubaldi A" first="Arianna" last="Guidubaldi">Arianna Guidubaldi</name>
<affiliation><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>
</affiliation>
</author>
<author><name sortKey="Paludetti, Gaetano" sort="Paludetti, Gaetano" uniqKey="Paludetti G" first="Gaetano" last="Paludetti">Gaetano Paludetti</name>
<affiliation><inist:fA14 i1="04"><s1>Institute of Otorhinolaryngology, Catholic University</s1>
<s2>Rome</s2>
<s3>ITA</s3>
<sZ>3 aut.</sZ>
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<sZ>8 aut.</sZ>
</inist:fA14>
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<author><name sortKey="Albanese, Alberto" sort="Albanese, Alberto" uniqKey="Albanese A" first="Alberto" last="Albanese">Alberto Albanese</name>
<affiliation><inist:fA14 i1="07"><s1>Department of Neurology, Carlo Besta Neurological Institute and Catholic University</s1>
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<s3>ITA</s3>
<sZ>9 aut.</sZ>
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</affiliation>
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<author><name sortKey="Barone, Paolo" sort="Barone, Paolo" uniqKey="Barone P" first="Paolo" last="Barone">Paolo Barone</name>
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<s2>Naples</s2>
<s3>ITA</s3>
<sZ>4 aut.</sZ>
<sZ>10 aut.</sZ>
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</affiliation>
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<author><name sortKey="Dallapiccola, Bruno" sort="Dallapiccola, Bruno" uniqKey="Dallapiccola B" first="Bruno" last="Dallapiccola">Bruno Dallapiccola</name>
<affiliation><inist:fA14 i1="01"><s1>CSS-Mendel Institute, Casa Sollievo della Sofferenza Hospital</s1>
<s2>Rome</s2>
<s3>ITA</s3>
<sZ>1 aut.</sZ>
<sZ>11 aut.</sZ>
<sZ>12 aut.</sZ>
</inist:fA14>
</affiliation>
<affiliation><inist:fA14 i1="02"><s1>Department of Experimental Medicine, Sapienza University</s1>
<s2>Rome</s2>
<s3>ITA</s3>
<sZ>1 aut.</sZ>
<sZ>11 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
<author><name sortKey="Valente, Enza Maria" sort="Valente, Enza Maria" uniqKey="Valente E" first="Enza Maria" last="Valente">Enza Maria Valente</name>
<affiliation><inist:fA14 i1="01"><s1>CSS-Mendel Institute, Casa Sollievo della Sofferenza Hospital</s1>
<s2>Rome</s2>
<s3>ITA</s3>
<sZ>1 aut.</sZ>
<sZ>11 aut.</sZ>
<sZ>12 aut.</sZ>
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</affiliation>
<affiliation><inist:fA14 i1="08"><s1>Department of Medical and Surgical Pediatric Sciences, University of Messina</s1>
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<s3>ITA</s3>
<sZ>12 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
<author><name sortKey="Bentivoglio, Anna Rita" sort="Bentivoglio, Anna Rita" uniqKey="Bentivoglio A" first="Anna Rita" last="Bentivoglio">Anna Rita Bentivoglio</name>
<affiliation><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>
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<series><title level="j" type="main">Movement disorders</title>
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<front><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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<sZ>3 aut.</sZ>
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<sZ>8 aut.</sZ>
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<fA14 i1="05"><s1>Department of Neurological Sciences, University Federico II, and IDC-Herritage-Capodimonte</s1>
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<s3>ITA</s3>
<sZ>4 aut.</sZ>
<sZ>10 aut.</sZ>
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<fA14 i1="06"><s1>Department of Neurology, Sant'Eugenio Hospital</s1>
<s2>Rome</s2>
<s3>ITA</s3>
<sZ>5 aut.</sZ>
</fA14>
<fA14 i1="07"><s1>Department of Neurology, Carlo Besta Neurological Institute and Catholic University</s1>
<s2>Milan</s2>
<s3>ITA</s3>
<sZ>9 aut.</sZ>
</fA14>
<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>
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<ET>Olfactory Dysfunction in Parkinsonism Caused by PINK1 Mutations</ET>
<AU>FERRARIS (Alessandro); IALONGO (Tamara); PASSALI (Giulio Cesare); PELLECCHIA (Maria Teresa); BRUSA (Livia); LARUFFA (Marianna); GUIDUBALDI (Arianna); PALUDETTI (Gaetano); ALBANESE (Alberto); BARONE (Paolo); DALLAPICCOLA (Bruno); VALENTE (Enza Maria); BENTIVOGLIO (Anna Rita)</AU>
<AF>CSS-Mendel Institute, Casa Sollievo della Sofferenza Hospital/Rome/Italie (1 aut., 11 aut., 12 aut.); Department of Experimental Medicine, Sapienza University/Rome/Italie (1 aut., 11 aut.); Institute of Neurology, Catholic University/Rome/Italie (2 aut., 7 aut., 13 aut.); Institute of Otorhinolaryngology, Catholic University/Rome/Italie (3 aut., 6 aut., 8 aut.); Department of Neurological Sciences, University Federico II, and IDC-Herritage-Capodimonte/Naples/Italie (4 aut., 10 aut.); Department of Neurology, Sant'Eugenio Hospital/Rome/Italie (5 aut.); Department of Neurology, Carlo Besta Neurological Institute and Catholic University/Milan/Italie (9 aut.); Department of Medical and Surgical Pediatric Sciences, University of Messina/Messina/Italie (12 aut.)</AF>
<DT>Publication en série; Niveau analytique</DT>
<SO>Movement disorders; ISSN 0885-3185; Etats-Unis; Da. 2009; Vol. 24; No. 16; Pp. 2350-2357; Bibl. 46 ref.</SO>
<LA>Anglais</LA>
<EA>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.</EA>
<CC>002B17; 002B17G</CC>
<FD>Trouble de l'odorat; Parkinsonisme; Maladie de Parkinson; Pathologie du   système nerveux; Mutation; Olfaction</FD>
<FG>Trouble neurologique; Pathologie de l'encéphale; Syndrome extrapyramidal; Maladie dégénérative; Pathologie du   système nerveux central</FG>
<ED>Olfactory disorder; Parkinsonism; Parkinson disease; Nervous system diseases; Mutation; Olfaction</ED>
<EG>Neurological disorder; Cerebral disorder; Extrapyramidal syndrome; Degenerative disease; Central nervous system disease</EG>
<SD>Trastorno olfatorio; Parkinson síndrome; Parkinson enfermedad; Sistema nervioso patología; Mutación; Olfación</SD>
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Movement Disorders (revue)

Olfactory Dysfunction in Parkinsonism Caused by PINK1 Mutations

Olfactory Dysfunction in Parkinsonism Caused by PINK1 Mutations

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