Decades of delayed diagnosis in 4 levodopa‐responsive young‐onset monogenetic parkinsonism patients
Identifieur interne : 001720 ( Main/Exploration ); précédent : 001719; suivant : 001721Decades of delayed diagnosis in 4 levodopa‐responsive young‐onset monogenetic parkinsonism patients
Auteurs : Helen Ling [Royaume-Uni] ; Mark Braschinsky [Estonie] ; Pille Taba [Estonie] ; Siiri-Merike Lüüs [Estonie] ; Karen Doherty [Royaume-Uni] ; Anna Hotter [Autriche] ; Werner Poewe [Autriche] ; Andrew Lees (neurologue) [Royaume-Uni]Source :
- Movement Disorders [ 0885-3185 ] ; 2011-06.
Descripteurs français
- Pascal (Inist)
- Wicri :
- topic : Homme.
English descriptors
- KwdEn :
- Adult, Age of Onset, Antiparkinson Agents (therapeutic use), Chronic fatigue syndrome, Delayed Diagnosis, Diagnosis, Diagnosis, Differential, Dystonic Disorders (diagnosis), Fatigue Syndrome, Chronic (diagnosis), Female, Gait Disorders, Neurologic (diagnosis), Human, Humans, Levodopa, Levodopa (therapeutic use), Nervous system diseases, Parkin, Parkinsonian Disorders (diagnosis), Parkinsonian Disorders (drug therapy), Parkinsonian Disorders (genetics), Parkinsonism, Psychogenic, Somatic conversion, Time Factors, Ubiquitin-Protein Ligases (genetics), Young Adult, chronic fatigue syndrome, conversion disorder, monogenetic parkinsonism, parkin, psychogenic movement disorders.
- MESH :
- chemical , genetics : Ubiquitin-Protein Ligases.
- chemical , therapeutic use : Antiparkinson Agents, Levodopa.
- diagnosis : Dystonic Disorders, Fatigue Syndrome, Chronic, Gait Disorders, Neurologic, Parkinsonian Disorders.
- drug therapy : Parkinsonian Disorders.
- genetics : Parkinsonian Disorders.
- Adult, Age of Onset, Delayed Diagnosis, Diagnosis, Differential, Female, Humans, Time Factors, Young Adult.
Abstract
Background:: We report 4 patients with young‐onset monogenetic parkinsonism, each of whom was misdiagnosed with either a psychogenic movement disorder or chronic fatigue syndrome for 10 to 23 years after the onset of their first symptoms. Results:: Once the diagnosis was eventually made, they all had a rapid and excellent response to levodopa, albeit with the early appearance of interdose dyskinesias in 3. Conclusions:: We discuss possible reasons for the missed diagnosis despite the relentless progression of their motor handicap. DAT scanning supported the revised clinical diagnosis of parkinsonism. © 2011 Movement Disorder Society
Url:
DOI: 10.1002/mds.23563
Affiliations:
- Autriche, Estonie, Royaume-Uni
- Angleterre, Grand Londres, Tyrol (Land)
- Innsbruck, Londres
- National Hospital for Neurology and Neurosurgery, Université de médecine d'Innsbruck
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Le document en format XML
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type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName><orgName>National Hospital for Neurology and Neurosurgery</orgName></affiliation><affiliation wicri:level="3"><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Queen Square Brain Bank for Neurological Disorders and Institute of Neurology, University College London, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName><orgName>National Hospital for Neurology and Neurosurgery</orgName></affiliation></author></analytic><monogr></monogr><series><title level="j">Movement Disorders</title><title level="j" type="abbrev">Mov. Disord.</title><idno type="ISSN">0885-3185</idno><idno type="eISSN">1531-8257</idno><imprint><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>Hoboken</pubPlace><date type="published" when="2011-06">2011-06</date><biblScope unit="vol">26</biblScope><biblScope unit="issue">7</biblScope><biblScope unit="page" from="1337">1337</biblScope><biblScope unit="page" to="1340">1340</biblScope></imprint><idno type="ISSN">0885-3185</idno></series><idno type="istex">72C21080A8E8CE2AD63870860B6499130C6401BD</idno><idno type="DOI">10.1002/mds.23563</idno><idno type="ArticleID">MDS23563</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0885-3185</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adult</term><term>Age of Onset</term><term>Antiparkinson Agents (therapeutic use)</term><term>Chronic fatigue syndrome</term><term>Delayed Diagnosis</term><term>Diagnosis</term><term>Diagnosis, Differential</term><term>Dystonic Disorders (diagnosis)</term><term>Fatigue Syndrome, Chronic (diagnosis)</term><term>Female</term><term>Gait Disorders, Neurologic (diagnosis)</term><term>Human</term><term>Humans</term><term>Levodopa</term><term>Levodopa (therapeutic use)</term><term>Nervous system diseases</term><term>Parkin</term><term>Parkinsonian Disorders (diagnosis)</term><term>Parkinsonian Disorders (drug therapy)</term><term>Parkinsonian Disorders (genetics)</term><term>Parkinsonism</term><term>Psychogenic</term><term>Somatic conversion</term><term>Time Factors</term><term>Ubiquitin-Protein Ligases (genetics)</term><term>Young Adult</term><term>chronic fatigue syndrome</term><term>conversion disorder</term><term>monogenetic parkinsonism</term><term>parkin</term><term>psychogenic movement disorders</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Ubiquitin-Protein Ligases</term></keywords><keywords scheme="MESH" type="chemical" qualifier="therapeutic use" xml:lang="en"><term>Antiparkinson Agents</term><term>Levodopa</term></keywords><keywords scheme="MESH" qualifier="diagnosis" xml:lang="en"><term>Dystonic Disorders</term><term>Fatigue Syndrome, Chronic</term><term>Gait Disorders, Neurologic</term><term>Parkinsonian Disorders</term></keywords><keywords scheme="MESH" qualifier="drug therapy" xml:lang="en"><term>Parkinsonian Disorders</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Parkinsonian Disorders</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adult</term><term>Age of Onset</term><term>Delayed Diagnosis</term><term>Diagnosis, Differential</term><term>Female</term><term>Humans</term><term>Time Factors</term><term>Young Adult</term></keywords><keywords scheme="Pascal" xml:lang="fr"><term>Conversion somatique</term><term>Diagnostic</term><term>Homme</term><term>Lévodopa</term><term>Parkine</term><term>Parkinsonisme</term><term>Pathologie du système nerveux</term><term>Psychogène</term><term>Syndrome de fatigue chronique</term></keywords><keywords scheme="Wicri" type="topic" xml:lang="fr"><term>Homme</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Background:: We report 4 patients with young‐onset monogenetic parkinsonism, each of whom was misdiagnosed with either a psychogenic movement disorder or chronic fatigue syndrome for 10 to 23 years after the onset of their first symptoms. Results:: Once the diagnosis was eventually made, they all had a rapid and excellent response to levodopa, albeit with the early appearance of interdose dyskinesias in 3. Conclusions:: We discuss possible reasons for the missed diagnosis despite the relentless progression of their motor handicap. DAT scanning supported the revised clinical diagnosis of parkinsonism. © 2011 Movement Disorder Society</div></front></TEI><affiliations><list><country><li>Autriche</li><li>Estonie</li><li>Royaume-Uni</li></country><region><li>Angleterre</li><li>Grand Londres</li><li>Tyrol (Land)</li></region><settlement><li>Innsbruck</li><li>Londres</li></settlement><orgName><li>National Hospital for Neurology and Neurosurgery</li><li>Université de médecine d'Innsbruck</li></orgName></list><tree><country name="Royaume-Uni"><region name="Angleterre"><name sortKey="Ling, Helen" sort="Ling, Helen" uniqKey="Ling H" first="Helen" last="Ling">Helen Ling</name></region><name sortKey="Doherty, Karen" sort="Doherty, Karen" uniqKey="Doherty K" first="Karen" last="Doherty">Karen Doherty</name><name sortKey="Doherty, Karen" sort="Doherty, Karen" uniqKey="Doherty K" first="Karen" last="Doherty">Karen Doherty</name><name sortKey="Lees, Andrew J" sort="Lees, Andrew J" uniqKey="Lees A" first="Andrew J." last="Lees">Andrew Lees (neurologue)</name><name sortKey="Lees, Andrew J" sort="Lees, Andrew J" uniqKey="Lees A" first="Andrew J." last="Lees">Andrew Lees (neurologue)</name><name sortKey="Ling, Helen" sort="Ling, Helen" uniqKey="Ling H" first="Helen" last="Ling">Helen Ling</name></country><country name="Estonie"><noRegion><name sortKey="Braschinsky, Mark" sort="Braschinsky, Mark" uniqKey="Braschinsky M" first="Mark" last="Braschinsky">Mark Braschinsky</name></noRegion><name sortKey="Luus, Siiri Erike" sort="Luus, Siiri Erike" uniqKey="Luus S" first="Siiri-Merike" last="Lüüs">Siiri-Merike Lüüs</name><name sortKey="Taba, Pille" sort="Taba, Pille" uniqKey="Taba P" first="Pille" last="Taba">Pille Taba</name></country><country name="Autriche"><noRegion><name sortKey="Hotter, Anna" sort="Hotter, Anna" uniqKey="Hotter A" first="Anna" last="Hotter">Anna Hotter</name></noRegion><name sortKey="Poewe, Werner" sort="Poewe, Werner" uniqKey="Poewe W" first="Werner" last="Poewe">Werner Poewe</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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