Movement Disorders (revue)

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Decades of Delayed Diagnosis in 4 Levodopa-Responsive Young-Onset Monogenetic Parkinsonism Patients

Identifieur interne : 000545 ( PascalFrancis/Corpus ); précédent : 000544; suivant : 000546

Decades of Delayed Diagnosis in 4 Levodopa-Responsive Young-Onset Monogenetic Parkinsonism Patients

Auteurs : Helen Ling ; Mark Braschinsky ; Pille Taba ; Siiri-Merike Luus ; Karen Doherty ; Anna Hotter ; Werner Poewe ; Andrew J. Lees

Source :

RBID : Pascal:11-0321221

Descripteurs français

English descriptors

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.

Notice en format standard (ISO 2709)

Pour connaître la documentation sur le format Inist Standard.

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A01 01  1    @0 0885-3185
A03   1    @0 Mov. disord.
A05       @2 26
A06       @2 7
A08 01  1  ENG  @1 Decades of Delayed Diagnosis in 4 Levodopa-Responsive Young-Onset Monogenetic Parkinsonism Patients
A11 01  1    @1 LING (Helen)
A11 02  1    @1 BRASCHINSKY (Mark)
A11 03  1    @1 TABA (Pille)
A11 04  1    @1 LUUS (Siiri-Merike)
A11 05  1    @1 DOHERTY (Karen)
A11 06  1    @1 HOTTER (Anna)
A11 07  1    @1 POEWE (Werner)
A11 08  1    @1 LEES (Andrew J.)
A14 01      @1 Reta Lila Weston Institute of Neurological Studies, Institute of Neurology, University College London @2 London @3 GBR @Z 1 aut. @Z 5 aut. @Z 8 aut.
A14 02      @1 Queen Square Brain Bank for Neurological Disorders and Institute of Neurology, University College London @2 London @3 GBR @Z 1 aut. @Z 5 aut. @Z 8 aut.
A14 03      @1 Department of Neurology, University of Tartu @2 Tartu @3 EST @Z 2 aut. @Z 3 aut. @Z 4 aut.
A14 04      @1 Department of Neurology, University Hospital of Innsbruck @3 AUT @Z 6 aut. @Z 7 aut.
A20       @1 1337-1340
A21       @1 2011
A23 01      @0 ENG
A43 01      @1 INIST @2 20953 @5 354000190480410210
A44       @0 0000 @1 © 2011 INIST-CNRS. All rights reserved.
A45       @0 8 ref.
A47 01  1    @0 11-0321221
A60       @1 P
A61       @0 A
A64 01  1    @0 Movement disorders
A66 01      @0 USA
C01 01    ENG  @0 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.
C02 01  X    @0 002B17
C02 02  X    @0 002B17F
C03 01  X  FRE  @0 Parkinsonisme @2 NM @5 01
C03 01  X  ENG  @0 Parkinsonism @2 NM @5 01
C03 01  X  SPA  @0 Parkinson síndrome @2 NM @5 01
C03 02  X  FRE  @0 Conversion somatique @5 02
C03 02  X  ENG  @0 Somatic conversion @5 02
C03 02  X  SPA  @0 Conversion somática @5 02
C03 03  X  FRE  @0 Syndrome de fatigue chronique @2 NM @5 03
C03 03  X  ENG  @0 Chronic fatigue syndrome @2 NM @5 03
C03 03  X  SPA  @0 Fatiga crónica síndrome @2 NM @5 03
C03 04  X  FRE  @0 Pathologie du système nerveux @5 04
C03 04  X  ENG  @0 Nervous system diseases @5 04
C03 04  X  SPA  @0 Sistema nervioso patología @5 04
C03 05  X  FRE  @0 Diagnostic @5 09
C03 05  X  ENG  @0 Diagnosis @5 09
C03 05  X  SPA  @0 Diagnóstico @5 09
C03 06  X  FRE  @0 Lévodopa @2 NK @2 FR @5 10
C03 06  X  ENG  @0 Levodopa @2 NK @2 FR @5 10
C03 06  X  SPA  @0 Levodopa @2 NK @2 FR @5 10
C03 07  X  FRE  @0 Homme @5 11
C03 07  X  ENG  @0 Human @5 11
C03 07  X  SPA  @0 Hombre @5 11
C03 08  X  FRE  @0 Parkine @5 12
C03 08  X  ENG  @0 Parkin @5 12
C03 08  X  SPA  @0 Parkin @5 12
C03 09  X  FRE  @0 Psychogène @5 13
C03 09  X  ENG  @0 Psychogenic @5 13
C03 09  X  SPA  @0 Psicógeno @5 13
C07 01  X  FRE  @0 Trouble somatoforme @2 NM @5 38
C07 01  X  ENG  @0 Somatoform disorder @2 NM @5 38
C07 01  X  SPA  @0 Trastorno somatoformo @2 NM @5 38
N21       @1 220
N44 01      @1 OTO
N82       @1 OTO

Format Inist (serveur)

NO : PASCAL 11-0321221 INIST
ET : Decades of Delayed Diagnosis in 4 Levodopa-Responsive Young-Onset Monogenetic Parkinsonism Patients
AU : LING (Helen); BRASCHINSKY (Mark); TABA (Pille); LUUS (Siiri-Merike); DOHERTY (Karen); HOTTER (Anna); POEWE (Werner); LEES (Andrew J.)
AF : Reta Lila Weston Institute of Neurological Studies, Institute of Neurology, University College London/London/Royaume-Uni (1 aut., 5 aut., 8 aut.); Queen Square Brain Bank for Neurological Disorders and Institute of Neurology, University College London/London/Royaume-Uni (1 aut., 5 aut., 8 aut.); Department of Neurology, University of Tartu/Tartu/Estonie (2 aut., 3 aut., 4 aut.); Department of Neurology, University Hospital of Innsbruck/Autriche (6 aut., 7 aut.)
DT : Publication en série; Niveau analytique
SO : Movement disorders; ISSN 0885-3185; Etats-Unis; Da. 2011; Vol. 26; No. 7; Pp. 1337-1340; Bibl. 8 ref.
LA : Anglais
EA : 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.
CC : 002B17; 002B17F
FD : Parkinsonisme; Conversion somatique; Syndrome de fatigue chronique; Pathologie du système nerveux; Diagnostic; Lévodopa; Homme; Parkine; Psychogène
FG : Trouble somatoforme
ED : Parkinsonism; Somatic conversion; Chronic fatigue syndrome; Nervous system diseases; Diagnosis; Levodopa; Human; Parkin; Psychogenic
EG : Somatoform disorder
SD : Parkinson síndrome; Conversion somática; Fatiga crónica síndrome; Sistema nervioso patología; Diagnóstico; Levodopa; Hombre; Parkin; Psicógeno
LO : INIST-20953.354000190480410210
ID : 11-0321221

Links to Exploration step

Pascal:11-0321221

Le document en format XML

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<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.</div>
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<s0>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.</s0>
</fC01>
<fC02 i1="01" i2="X">
<s0>002B17</s0>
</fC02>
<fC02 i1="02" i2="X">
<s0>002B17F</s0>
</fC02>
<fC03 i1="01" i2="X" l="FRE">
<s0>Parkinsonisme</s0>
<s2>NM</s2>
<s5>01</s5>
</fC03>
<fC03 i1="01" i2="X" l="ENG">
<s0>Parkinsonism</s0>
<s2>NM</s2>
<s5>01</s5>
</fC03>
<fC03 i1="01" i2="X" l="SPA">
<s0>Parkinson síndrome</s0>
<s2>NM</s2>
<s5>01</s5>
</fC03>
<fC03 i1="02" i2="X" l="FRE">
<s0>Conversion somatique</s0>
<s5>02</s5>
</fC03>
<fC03 i1="02" i2="X" l="ENG">
<s0>Somatic conversion</s0>
<s5>02</s5>
</fC03>
<fC03 i1="02" i2="X" l="SPA">
<s0>Conversion somática</s0>
<s5>02</s5>
</fC03>
<fC03 i1="03" i2="X" l="FRE">
<s0>Syndrome de fatigue chronique</s0>
<s2>NM</s2>
<s5>03</s5>
</fC03>
<fC03 i1="03" i2="X" l="ENG">
<s0>Chronic fatigue syndrome</s0>
<s2>NM</s2>
<s5>03</s5>
</fC03>
<fC03 i1="03" i2="X" l="SPA">
<s0>Fatiga crónica síndrome</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>Diagnostic</s0>
<s5>09</s5>
</fC03>
<fC03 i1="05" i2="X" l="ENG">
<s0>Diagnosis</s0>
<s5>09</s5>
</fC03>
<fC03 i1="05" i2="X" l="SPA">
<s0>Diagnóstico</s0>
<s5>09</s5>
</fC03>
<fC03 i1="06" i2="X" l="FRE">
<s0>Lévodopa</s0>
<s2>NK</s2>
<s2>FR</s2>
<s5>10</s5>
</fC03>
<fC03 i1="06" i2="X" l="ENG">
<s0>Levodopa</s0>
<s2>NK</s2>
<s2>FR</s2>
<s5>10</s5>
</fC03>
<fC03 i1="06" i2="X" l="SPA">
<s0>Levodopa</s0>
<s2>NK</s2>
<s2>FR</s2>
<s5>10</s5>
</fC03>
<fC03 i1="07" i2="X" l="FRE">
<s0>Homme</s0>
<s5>11</s5>
</fC03>
<fC03 i1="07" i2="X" l="ENG">
<s0>Human</s0>
<s5>11</s5>
</fC03>
<fC03 i1="07" i2="X" l="SPA">
<s0>Hombre</s0>
<s5>11</s5>
</fC03>
<fC03 i1="08" i2="X" l="FRE">
<s0>Parkine</s0>
<s5>12</s5>
</fC03>
<fC03 i1="08" i2="X" l="ENG">
<s0>Parkin</s0>
<s5>12</s5>
</fC03>
<fC03 i1="08" i2="X" l="SPA">
<s0>Parkin</s0>
<s5>12</s5>
</fC03>
<fC03 i1="09" i2="X" l="FRE">
<s0>Psychogène</s0>
<s5>13</s5>
</fC03>
<fC03 i1="09" i2="X" l="ENG">
<s0>Psychogenic</s0>
<s5>13</s5>
</fC03>
<fC03 i1="09" i2="X" l="SPA">
<s0>Psicógeno</s0>
<s5>13</s5>
</fC03>
<fC07 i1="01" i2="X" l="FRE">
<s0>Trouble somatoforme</s0>
<s2>NM</s2>
<s5>38</s5>
</fC07>
<fC07 i1="01" i2="X" l="ENG">
<s0>Somatoform disorder</s0>
<s2>NM</s2>
<s5>38</s5>
</fC07>
<fC07 i1="01" i2="X" l="SPA">
<s0>Trastorno somatoformo</s0>
<s2>NM</s2>
<s5>38</s5>
</fC07>
<fN21>
<s1>220</s1>
</fN21>
<fN44 i1="01">
<s1>OTO</s1>
</fN44>
<fN82>
<s1>OTO</s1>
</fN82>
</pA>
</standard>
<server>
<NO>PASCAL 11-0321221 INIST</NO>
<ET>Decades of Delayed Diagnosis in 4 Levodopa-Responsive Young-Onset Monogenetic Parkinsonism Patients</ET>
<AU>LING (Helen); BRASCHINSKY (Mark); TABA (Pille); LUUS (Siiri-Merike); DOHERTY (Karen); HOTTER (Anna); POEWE (Werner); LEES (Andrew J.)</AU>
<AF>Reta Lila Weston Institute of Neurological Studies, Institute of Neurology, University College London/London/Royaume-Uni (1 aut., 5 aut., 8 aut.); Queen Square Brain Bank for Neurological Disorders and Institute of Neurology, University College London/London/Royaume-Uni (1 aut., 5 aut., 8 aut.); Department of Neurology, University of Tartu/Tartu/Estonie (2 aut., 3 aut., 4 aut.); Department of Neurology, University Hospital of Innsbruck/Autriche (6 aut., 7 aut.)</AF>
<DT>Publication en série; Niveau analytique</DT>
<SO>Movement disorders; ISSN 0885-3185; Etats-Unis; Da. 2011; Vol. 26; No. 7; Pp. 1337-1340; Bibl. 8 ref.</SO>
<LA>Anglais</LA>
<EA>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.</EA>
<CC>002B17; 002B17F</CC>
<FD>Parkinsonisme; Conversion somatique; Syndrome de fatigue chronique; Pathologie du système nerveux; Diagnostic; Lévodopa; Homme; Parkine; Psychogène</FD>
<FG>Trouble somatoforme</FG>
<ED>Parkinsonism; Somatic conversion; Chronic fatigue syndrome; Nervous system diseases; Diagnosis; Levodopa; Human; Parkin; Psychogenic</ED>
<EG>Somatoform disorder</EG>
<SD>Parkinson síndrome; Conversion somática; Fatiga crónica síndrome; Sistema nervioso patología; Diagnóstico; Levodopa; Hombre; Parkin; Psicógeno</SD>
<LO>INIST-20953.354000190480410210</LO>
<ID>11-0321221</ID>
</server>
</inist>
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