Movement Disorders (revue)

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Non-movement disorder heralds symptoms of Machado-Joseph disease years before ataxia

Identifieur interne : 001E54 ( PascalFrancis/Corpus ); précédent : 001E53; suivant : 001E55

Non-movement disorder heralds symptoms of Machado-Joseph disease years before ataxia

Auteurs : Anelyssa D'Abreu ; Joseph Friedman ; Jim Coskun

Source :

RBID : Pascal:05-0363484

Descripteurs français

English descriptors

Abstract

We describe three patients with the Machado-Joseph disease (MJD) genetic abnormality who had non-movement disorder neurological symptoms or signs that preceded the gait ataxia by several years. This implies that some clinical manifestations other than ataxia may be considered part of the herald symptoms of MJD, especially in the setting of a positive family history.

Notice en format standard (ISO 2709)

Pour connaître la documentation sur le format Inist Standard.

pA  
A01 01  1    @0 0885-3185
A03   1    @0 Mov. disord.
A05       @2 20
A06       @2 6
A08 01  1  ENG  @1 Non-movement disorder heralds symptoms of Machado-Joseph disease years before ataxia
A11 01  1    @1 D'ABREU (Anelyssa)
A11 02  1    @1 FRIEDMAN (Joseph)
A11 03  1    @1 COSKUN (Jim)
A14 01      @1 Department of Neurology, Memorial Hospital of Rhode Island @2 Pawtucket, Rhode Island @3 USA @Z 1 aut.
A14 02      @1 Department of Clinical Neuroscience, Brown University School of Medicine @2 Providence, Rhode Island @3 USA @Z 2 aut. @Z 3 aut.
A20       @1 739-741
A21       @1 2005
A23 01      @0 ENG
A43 01      @1 INIST @2 20953 @5 354000138604660120
A44       @0 0000 @1 © 2005 INIST-CNRS. All rights reserved.
A45       @0 19 ref.
A47 01  1    @0 05-0363484
A60       @1 P @3 CC
A61       @0 A
A64 01  1    @0 Movement disorders
A66 01      @0 USA
C01 01    ENG  @0 We describe three patients with the Machado-Joseph disease (MJD) genetic abnormality who had non-movement disorder neurological symptoms or signs that preceded the gait ataxia by several years. This implies that some clinical manifestations other than ataxia may be considered part of the herald symptoms of MJD, especially in the setting of a positive family history.
C02 01  X    @0 002B17
C02 02  X    @0 002B17G
C02 03  X    @0 002B17A03
C03 01  X  FRE  @0 Système nerveux pathologie @5 01
C03 01  X  ENG  @0 Nervous system diseases @5 01
C03 01  X  SPA  @0 Sistema nervioso patología @5 01
C03 02  X  FRE  @0 Joseph maladie @5 02
C03 02  X  ENG  @0 Joseph disease @5 02
C03 02  X  SPA  @0 Joseph enfermedad @5 02
C03 03  X  FRE  @0 Ataxie @5 03
C03 03  X  ENG  @0 Ataxia @5 03
C03 03  X  SPA  @0 Ataxia @5 03
C03 04  X  FRE  @0 Neuropathie périphérique @5 04
C03 04  X  ENG  @0 Peripheral neuropathy @5 04
C03 04  X  SPA  @0 Neuropatía periférica @5 04
C03 05  X  FRE  @0 Crampe @5 05
C03 05  X  ENG  @0 Cramp @5 05
C03 05  X  SPA  @0 Calambre @5 05
C03 06  X  FRE  @0 Trouble sommeil @5 06
C03 06  X  ENG  @0 Sleep disorder @5 06
C03 06  X  SPA  @0 Trastorno sueño @5 06
C03 07  X  FRE  @0 Trouble comportement @5 07
C03 07  X  ENG  @0 Behavioral disorder @5 07
C03 07  X  SPA  @0 Trastorno conducta @5 07
C03 08  X  FRE  @0 Sommeil paradoxal @5 09
C03 08  X  ENG  @0 Rapid eye movement sleep @5 09
C03 08  X  SPA  @0 Sueño paradojal @5 09
C07 01  X  FRE  @0 Aminoacidopathie @5 37
C07 01  X  ENG  @0 Aminoacid disorder @5 37
C07 01  X  SPA  @0 Aminoacido alteración @5 37
C07 02  X  FRE  @0 Encéphale pathologie @5 38
C07 02  X  ENG  @0 Cerebral disorder @5 38
C07 02  X  SPA  @0 Encéfalo patología @5 38
C07 03  X  FRE  @0 Enzymopathie @5 39
C07 03  X  ENG  @0 Enzymopathy @5 39
C07 03  X  SPA  @0 Enzimopatía @5 39
C07 04  X  FRE  @0 Maladie dégénérative @5 40
C07 04  X  ENG  @0 Degenerative disease @5 40
C07 04  X  SPA  @0 Enfermedad degenerativa @5 40
C07 05  X  FRE  @0 Maladie héréditaire @5 41
C07 05  X  ENG  @0 Genetic disease @5 41
C07 05  X  SPA  @0 Enfermedad hereditaria @5 41
C07 06  X  FRE  @0 Métabolisme pathologie @5 42
C07 06  X  ENG  @0 Metabolic diseases @5 42
C07 06  X  SPA  @0 Metabolismo patología @5 42
C07 07  X  FRE  @0 Système nerveux central pathologie @5 43
C07 07  X  ENG  @0 Central nervous system disease @5 43
C07 07  X  SPA  @0 Sistema nervosio central patología @5 43
C07 08  X  FRE  @0 Trouble neurologique @5 44
C07 08  X  ENG  @0 Neurological disorder @5 44
C07 08  X  SPA  @0 Trastorno neurológico @5 44
C07 09  X  FRE  @0 Nerf périphérique pathologie @5 45
C07 09  X  ENG  @0 Peripheral nerve disease @5 45
C07 09  X  SPA  @0 Nervio periférico patología @5 45
C07 10  X  FRE  @0 Muscle strié pathologie @5 46
C07 10  X  ENG  @0 Striated muscle disease @5 46
C07 10  X  SPA  @0 Músculo estriado patología @5 46
C07 11  X  FRE  @0 Cycle veille sommeil @5 47
C07 11  X  ENG  @0 Sleep wake cycle @5 47
C07 11  X  SPA  @0 Ciclo sueño vigilia @5 47
N21       @1 255
N44 01      @1 OTO
N82       @1 OTO

Format Inist (serveur)

NO : PASCAL 05-0363484 INIST
ET : Non-movement disorder heralds symptoms of Machado-Joseph disease years before ataxia
AU : D'ABREU (Anelyssa); FRIEDMAN (Joseph); COSKUN (Jim)
AF : Department of Neurology, Memorial Hospital of Rhode Island/Pawtucket, Rhode Island/Etats-Unis (1 aut.); Department of Clinical Neuroscience, Brown University School of Medicine/Providence, Rhode Island/Etats-Unis (2 aut., 3 aut.)
DT : Publication en série; Courte communication, note brève; Niveau analytique
SO : Movement disorders; ISSN 0885-3185; Etats-Unis; Da. 2005; Vol. 20; No. 6; Pp. 739-741; Bibl. 19 ref.
LA : Anglais
EA : We describe three patients with the Machado-Joseph disease (MJD) genetic abnormality who had non-movement disorder neurological symptoms or signs that preceded the gait ataxia by several years. This implies that some clinical manifestations other than ataxia may be considered part of the herald symptoms of MJD, especially in the setting of a positive family history.
CC : 002B17; 002B17G; 002B17A03
FD : Système nerveux pathologie; Joseph maladie; Ataxie; Neuropathie périphérique; Crampe; Trouble sommeil; Trouble comportement; Sommeil paradoxal
FG : Aminoacidopathie; Encéphale pathologie; Enzymopathie; Maladie dégénérative; Maladie héréditaire; Métabolisme pathologie; Système nerveux central pathologie; Trouble neurologique; Nerf périphérique pathologie; Muscle strié pathologie; Cycle veille sommeil
ED : Nervous system diseases; Joseph disease; Ataxia; Peripheral neuropathy; Cramp; Sleep disorder; Behavioral disorder; Rapid eye movement sleep
EG : Aminoacid disorder; Cerebral disorder; Enzymopathy; Degenerative disease; Genetic disease; Metabolic diseases; Central nervous system disease; Neurological disorder; Peripheral nerve disease; Striated muscle disease; Sleep wake cycle
SD : Sistema nervioso patología; Joseph enfermedad; Ataxia; Neuropatía periférica; Calambre; Trastorno sueño; Trastorno conducta; Sueño paradojal
LO : INIST-20953.354000138604660120
ID : 05-0363484

Links to Exploration step

Pascal:05-0363484

Le document en format XML

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<s0>Sistema nervosio central patología</s0>
<s5>43</s5>
</fC07>
<fC07 i1="08" i2="X" l="FRE">
<s0>Trouble neurologique</s0>
<s5>44</s5>
</fC07>
<fC07 i1="08" i2="X" l="ENG">
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<s5>44</s5>
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<s0>Trastorno neurológico</s0>
<s5>44</s5>
</fC07>
<fC07 i1="09" i2="X" l="FRE">
<s0>Nerf périphérique pathologie</s0>
<s5>45</s5>
</fC07>
<fC07 i1="09" i2="X" l="ENG">
<s0>Peripheral nerve disease</s0>
<s5>45</s5>
</fC07>
<fC07 i1="09" i2="X" l="SPA">
<s0>Nervio periférico patología</s0>
<s5>45</s5>
</fC07>
<fC07 i1="10" i2="X" l="FRE">
<s0>Muscle strié pathologie</s0>
<s5>46</s5>
</fC07>
<fC07 i1="10" i2="X" l="ENG">
<s0>Striated muscle disease</s0>
<s5>46</s5>
</fC07>
<fC07 i1="10" i2="X" l="SPA">
<s0>Músculo estriado patología</s0>
<s5>46</s5>
</fC07>
<fC07 i1="11" i2="X" l="FRE">
<s0>Cycle veille sommeil</s0>
<s5>47</s5>
</fC07>
<fC07 i1="11" i2="X" l="ENG">
<s0>Sleep wake cycle</s0>
<s5>47</s5>
</fC07>
<fC07 i1="11" i2="X" l="SPA">
<s0>Ciclo sueño vigilia</s0>
<s5>47</s5>
</fC07>
<fN21>
<s1>255</s1>
</fN21>
<fN44 i1="01">
<s1>OTO</s1>
</fN44>
<fN82>
<s1>OTO</s1>
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<server>
<NO>PASCAL 05-0363484 INIST</NO>
<ET>Non-movement disorder heralds symptoms of Machado-Joseph disease years before ataxia</ET>
<AU>D'ABREU (Anelyssa); FRIEDMAN (Joseph); COSKUN (Jim)</AU>
<AF>Department of Neurology, Memorial Hospital of Rhode Island/Pawtucket, Rhode Island/Etats-Unis (1 aut.); Department of Clinical Neuroscience, Brown University School of Medicine/Providence, Rhode Island/Etats-Unis (2 aut., 3 aut.)</AF>
<DT>Publication en série; Courte communication, note brève; Niveau analytique</DT>
<SO>Movement disorders; ISSN 0885-3185; Etats-Unis; Da. 2005; Vol. 20; No. 6; Pp. 739-741; Bibl. 19 ref.</SO>
<LA>Anglais</LA>
<EA>We describe three patients with the Machado-Joseph disease (MJD) genetic abnormality who had non-movement disorder neurological symptoms or signs that preceded the gait ataxia by several years. This implies that some clinical manifestations other than ataxia may be considered part of the herald symptoms of MJD, especially in the setting of a positive family history.</EA>
<CC>002B17; 002B17G; 002B17A03</CC>
<FD>Système nerveux pathologie; Joseph maladie; Ataxie; Neuropathie périphérique; Crampe; Trouble sommeil; Trouble comportement; Sommeil paradoxal</FD>
<FG>Aminoacidopathie; Encéphale pathologie; Enzymopathie; Maladie dégénérative; Maladie héréditaire; Métabolisme pathologie; Système nerveux central pathologie; Trouble neurologique; Nerf périphérique pathologie; Muscle strié pathologie; Cycle veille sommeil</FG>
<ED>Nervous system diseases; Joseph disease; Ataxia; Peripheral neuropathy; Cramp; Sleep disorder; Behavioral disorder; Rapid eye movement sleep</ED>
<EG>Aminoacid disorder; Cerebral disorder; Enzymopathy; Degenerative disease; Genetic disease; Metabolic diseases; Central nervous system disease; Neurological disorder; Peripheral nerve disease; Striated muscle disease; Sleep wake cycle</EG>
<SD>Sistema nervioso patología; Joseph enfermedad; Ataxia; Neuropatía periférica; Calambre; Trastorno sueño; Trastorno conducta; Sueño paradojal</SD>
<LO>INIST-20953.354000138604660120</LO>
<ID>05-0363484</ID>
</server>
</inist>
</record>

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