Olfactory Dysfunction in Parkinsonism Caused by PINK1 Mutations
Identifieur interne : 000C63 ( PascalFrancis/Corpus ); précédent : 000C62; suivant : 000C64Olfactory 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 BentivoglioSource :
- Movement disorders [ 0885-3185 ] ; 2009.
Descripteurs français
- Pascal (Inist)
English descriptors
- KwdEn :
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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Pour connaître la documentation sur le format Inist Standard.
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Format Inist (serveur)
NO : | PASCAL 10-0071259 INIST |
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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 |
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Pascal:10-0071259Le document en format XML
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<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a">Olfactory Dysfunction in Parkinsonism Caused by PINK1 Mutations</title>
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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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<s3>ITA</s3>
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<sZ>11 aut.</sZ>
<sZ>12 aut.</sZ>
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<author><name sortKey="Bentivoglio, Anna Rita" sort="Bentivoglio, Anna Rita" uniqKey="Bentivoglio A" first="Anna Rita" last="Bentivoglio">Anna Rita Bentivoglio</name>
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<s2>Rome</s2>
<s3>ITA</s3>
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<series><title level="j" type="main">Movement disorders</title>
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<term>Parkinsonism</term>
</keywords>
<keywords scheme="Pascal" xml:lang="fr"><term>Trouble de l'odorat</term>
<term>Parkinsonisme</term>
<term>Maladie de Parkinson</term>
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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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<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>
</fA14>
<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>
</fA14>
<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>
</fA14>
<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>
</fA14>
<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>
</fA14>
<fA20><s1>2350-2357</s1>
</fA20>
<fA21><s1>2009</s1>
</fA21>
<fA23 i1="01"><s0>ENG</s0>
</fA23>
<fA43 i1="01"><s1>INIST</s1>
<s2>20953</s2>
<s5>354000190005540060</s5>
</fA43>
<fA44><s0>0000</s0>
<s1>© 2010 INIST-CNRS. All rights reserved.</s1>
</fA44>
<fA45><s0>46 ref.</s0>
</fA45>
<fA47 i1="01" i2="1"><s0>10-0071259</s0>
</fA47>
<fA60><s1>P</s1>
</fA60>
<fA61><s0>A</s0>
</fA61>
<fA64 i1="01" i2="1"><s0>Movement disorders</s0>
</fA64>
<fA66 i1="01"><s0>USA</s0>
</fA66>
<fC01 i1="01" l="ENG"><s0>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.</s0>
</fC01>
<fC02 i1="01" i2="X"><s0>002B17</s0>
</fC02>
<fC02 i1="02" i2="X"><s0>002B17G</s0>
</fC02>
<fC03 i1="01" i2="X" l="FRE"><s0>Trouble de l'odorat</s0>
<s5>01</s5>
</fC03>
<fC03 i1="01" i2="X" l="ENG"><s0>Olfactory disorder</s0>
<s5>01</s5>
</fC03>
<fC03 i1="01" i2="X" l="SPA"><s0>Trastorno olfatorio</s0>
<s5>01</s5>
</fC03>
<fC03 i1="02" i2="X" l="FRE"><s0>Parkinsonisme</s0>
<s2>NM</s2>
<s5>02</s5>
</fC03>
<fC03 i1="02" i2="X" l="ENG"><s0>Parkinsonism</s0>
<s2>NM</s2>
<s5>02</s5>
</fC03>
<fC03 i1="02" i2="X" l="SPA"><s0>Parkinson síndrome</s0>
<s2>NM</s2>
<s5>02</s5>
</fC03>
<fC03 i1="03" i2="X" l="FRE"><s0>Maladie de Parkinson</s0>
<s2>NM</s2>
<s5>03</s5>
</fC03>
<fC03 i1="03" i2="X" l="ENG"><s0>Parkinson disease</s0>
<s2>NM</s2>
<s5>03</s5>
</fC03>
<fC03 i1="03" i2="X" l="SPA"><s0>Parkinson enfermedad</s0>
<s2>NM</s2>
<s5>03</s5>
</fC03>
<fC03 i1="04" i2="X" l="FRE"><s0>Pathologie du système nerveux</s0>
<s5>04</s5>
</fC03>
<fC03 i1="04" i2="X" l="ENG"><s0>Nervous system diseases</s0>
<s5>04</s5>
</fC03>
<fC03 i1="04" i2="X" l="SPA"><s0>Sistema nervioso patología</s0>
<s5>04</s5>
</fC03>
<fC03 i1="05" i2="X" l="FRE"><s0>Mutation</s0>
<s5>09</s5>
</fC03>
<fC03 i1="05" i2="X" l="ENG"><s0>Mutation</s0>
<s5>09</s5>
</fC03>
<fC03 i1="05" i2="X" l="SPA"><s0>Mutación</s0>
<s5>09</s5>
</fC03>
<fC03 i1="06" i2="X" l="FRE"><s0>Olfaction</s0>
<s5>10</s5>
</fC03>
<fC03 i1="06" i2="X" l="ENG"><s0>Olfaction</s0>
<s5>10</s5>
</fC03>
<fC03 i1="06" i2="X" l="SPA"><s0>Olfación</s0>
<s5>10</s5>
</fC03>
<fC07 i1="01" i2="X" l="FRE"><s0>Trouble neurologique</s0>
<s5>38</s5>
</fC07>
<fC07 i1="01" i2="X" l="ENG"><s0>Neurological disorder</s0>
<s5>38</s5>
</fC07>
<fC07 i1="01" i2="X" l="SPA"><s0>Trastorno neurológico</s0>
<s5>38</s5>
</fC07>
<fC07 i1="02" i2="X" l="FRE"><s0>Pathologie de l'encéphale</s0>
<s5>39</s5>
</fC07>
<fC07 i1="02" i2="X" l="ENG"><s0>Cerebral disorder</s0>
<s5>39</s5>
</fC07>
<fC07 i1="02" i2="X" l="SPA"><s0>Encéfalo patología</s0>
<s5>39</s5>
</fC07>
<fC07 i1="03" i2="X" l="FRE"><s0>Syndrome extrapyramidal</s0>
<s5>40</s5>
</fC07>
<fC07 i1="03" i2="X" l="ENG"><s0>Extrapyramidal syndrome</s0>
<s5>40</s5>
</fC07>
<fC07 i1="03" i2="X" l="SPA"><s0>Extrapiramidal síndrome</s0>
<s5>40</s5>
</fC07>
<fC07 i1="04" i2="X" l="FRE"><s0>Maladie dégénérative</s0>
<s5>41</s5>
</fC07>
<fC07 i1="04" i2="X" l="ENG"><s0>Degenerative disease</s0>
<s5>41</s5>
</fC07>
<fC07 i1="04" i2="X" l="SPA"><s0>Enfermedad degenerativa</s0>
<s5>41</s5>
</fC07>
<fC07 i1="05" i2="X" l="FRE"><s0>Pathologie du système nerveux central</s0>
<s5>42</s5>
</fC07>
<fC07 i1="05" i2="X" l="ENG"><s0>Central nervous system disease</s0>
<s5>42</s5>
</fC07>
<fC07 i1="05" i2="X" l="SPA"><s0>Sistema nervosio central patología</s0>
<s5>42</s5>
</fC07>
<fN21><s1>046</s1>
</fN21>
<fN44 i1="01"><s1>OTO</s1>
</fN44>
<fN82><s1>OTO</s1>
</fN82>
</pA>
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<server><NO>PASCAL 10-0071259 INIST</NO>
<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>
<LO>INIST-20953.354000190005540060</LO>
<ID>10-0071259</ID>
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