MovDisordV3, Main, Exploration, bibRecord, 003B25

Sporadic case of dentatorubral pallidoluysian atrophy with no CAG repeat expansion and no intranuclear inclusions

Identifieur interne : 003B25 ( Main/Exploration ); précédent : 003B24; suivant : 003B26

Sporadic case of dentatorubral pallidoluysian atrophy with no CAG repeat expansion and no intranuclear inclusions

Auteurs : Renato P. Munhoz [Canada] ; Catherine Bergeron [Canada] ; Anthony E. Lang [Canada]

Source :

Movement Disorders [ 0885-3185 ] ; 2004-05.

RBID : ISTEX:0CB2D1AA0FF79A57431E3E1177587FA55A8EDA29

Descripteurs français

Pascal (Inist)
- Atrophie, Inclusion, Sporadique, Système nerveux pathologie.

English descriptors

KwdEn :
- Adult, Atrophy, Blinking (physiology), Dystonia (diagnosis), Dystonia (etiology), Dystonia (physiopathology), Globus Pallidus (metabolism), Globus Pallidus (pathology), Humans, Inclusion, Magnetic Resonance Imaging, Male, Myoclonic Epilepsies, Progressive (complications), Myoclonic Epilepsies, Progressive (diagnosis), Myoclonic Epilepsies, Progressive (genetics), Nervous system diseases, Oximes (diagnostic use), Radiopharmaceuticals (diagnostic use), Saccades (physiology), Sporadic, Subthalamic Nucleus (metabolism), Subthalamic Nucleus (pathology), Tomography, Emission-Computed, Single-Photon, Trinucleotide Repeats (genetics), dentatorubral pallidoluysian atrophy, DRPLA, sporadic, intranuclear inclusion, polyglutamine repeat.
MESH :
- chemical , diagnostic use : Oximes, Radiopharmaceuticals.
- complications : Myoclonic Epilepsies, Progressive.
- diagnosis : Dystonia, Myoclonic Epilepsies, Progressive.
- etiology : Dystonia.
- genetics : Myoclonic Epilepsies, Progressive, Trinucleotide Repeats.
- metabolism : Globus Pallidus, Subthalamic Nucleus.
- pathology : Globus Pallidus, Subthalamic Nucleus.
- physiology : Blinking, Saccades.
- physiopathology : Dystonia.
- Adult, Humans, Magnetic Resonance Imaging, Male, Tomography, Emission-Computed, Single-Photon.

Abstract

We present a patient with a 14‐year course beginning at the age of 44 years with hemidystonia followed by generalized choreoathetosis, behavioral, and oculomotor disturbances. Family history and genetic testing were unrevealing. Neuropathological findings were identical to genetic dentatorubral pallidoluysian (DRPLA) except for the lack of intranuclear inclusions. © 2003 Movement Disorder Society

Url:

https://api.istex.fr/document/0CB2D1AA0FF79A57431E3E1177587FA55A8EDA29/fulltext/pdf

DOI: 10.1002/mds.10674

Affiliations:

Le document en format XML

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<term>Dystonia (diagnosis)</term>
<term>Dystonia (etiology)</term>
<term>Dystonia (physiopathology)</term>
<term>Globus Pallidus (metabolism)</term>
<term>Globus Pallidus (pathology)</term>
<term>Humans</term>
<term>Inclusion</term>
<term>Magnetic Resonance Imaging</term>
<term>Male</term>
<term>Myoclonic Epilepsies, Progressive (complications)</term>
<term>Myoclonic Epilepsies, Progressive (diagnosis)</term>
<term>Myoclonic Epilepsies, Progressive (genetics)</term>
<term>Nervous system diseases</term>
<term>Oximes (diagnostic use)</term>
<term>Radiopharmaceuticals (diagnostic use)</term>
<term>Saccades (physiology)</term>
<term>Sporadic</term>
<term>Subthalamic Nucleus (metabolism)</term>
<term>Subthalamic Nucleus (pathology)</term>
<term>Tomography, Emission-Computed, Single-Photon</term>
<term>Trinucleotide Repeats (genetics)</term>
<term>dentatorubral pallidoluysian atrophy, DRPLA, sporadic, intranuclear inclusion, polyglutamine repeat</term>
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<term>Myoclonic Epilepsies, Progressive</term>
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<term>Trinucleotide Repeats</term>
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<term>Saccades</term>
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<term>Humans</term>
<term>Magnetic Resonance Imaging</term>
<term>Male</term>
<term>Tomography, Emission-Computed, Single-Photon</term>
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<keywords scheme="Pascal" xml:lang="fr"><term>Atrophie</term>
<term>Inclusion</term>
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<term>Système nerveux pathologie</term>
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<front><div type="abstract" xml:lang="en">We present a patient with a 14‐year course beginning at the age of 44 years with hemidystonia followed by generalized choreoathetosis, behavioral, and oculomotor disturbances. Family history and genetic testing were unrevealing. Neuropathological findings were identical to genetic dentatorubral pallidoluysian (DRPLA) except for the lack of intranuclear inclusions. © 2003 Movement Disorder Society</div>
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<name sortKey="Lang, Anthony E" sort="Lang, Anthony E" uniqKey="Lang A" first="Anthony E." last="Lang">Anthony E. Lang</name>
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Movement Disorders (revue)

Sporadic case of dentatorubral pallidoluysian atrophy with no CAG repeat expansion and no intranuclear inclusions

Sporadic case of dentatorubral pallidoluysian atrophy with no CAG repeat expansion and no intranuclear inclusions

Source :

Descripteurs français

English descriptors

Abstract

Links toward previous steps (curation, corpus...)

Le document en format XML

Pour manipuler ce document sous Unix (Dilib)

Pour mettre un lien sur cette page dans le réseau Wicri

	Movement Disorders (revue)
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