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Rapidly progressive sporadic dentatorubral pallidoluysian atrophy with intracytoplasmic inclusions and no CAG repeat expansion

Identifieur interne : 003224 ( Main/Exploration ); précédent : 003223; suivant : 003225

Rapidly progressive sporadic dentatorubral pallidoluysian atrophy with intracytoplasmic inclusions and no CAG repeat expansion

Auteurs : Alberto J. Espay [Canada, États-Unis] ; Catherine Bergeron [Canada] ; Robert Chen [Canada] ; Anthony E. Lang [Canada]

Source :

Movement Disorders [ 0885-3185 ] ; 2006-12.

RBID : ISTEX:033FC5369A3C0B2A2C348FD3D03EDCD1C24E6CD1

Descripteurs français

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

English descriptors

KwdEn :
- Ataxia, Atrophy, Choreoathetosis, Disease Progression, Globus Pallidus (pathology), Humans, Inclusion, Inclusion Bodies (pathology), Male, Middle Aged, Myoclonic Epilepsies, Progressive (complications), Myoclonic Epilepsies, Progressive (genetics), Myoclonic Epilepsies, Progressive (pathology), Nervous system diseases, Sporadic, Subthalamic Nucleus (pathology), Trinucleotide Repeat Expansion (genetics), ataxia, choreoathetosis, dentatorubral pallidoluysian atrophy, inclusions.
MESH :
- complications : Myoclonic Epilepsies, Progressive.
- genetics : Myoclonic Epilepsies, Progressive, Trinucleotide Repeat Expansion.
- pathology : Globus Pallidus, Inclusion Bodies, Myoclonic Epilepsies, Progressive, Subthalamic Nucleus.
- Disease Progression, Humans, Male, Middle Aged.

Abstract

A 48‐year‐old man developed progressive hemidystonia and postural impairment with falls, followed by choreoathetosis, hyporeflexia, ataxia, supranuclear vertical gaze palsy, and dementia, lasting only 3.5 years from symptom onset to death. Family history and genetic testing were unrevealing. Neuropathology showed findings identical to genetic dentatorubral pallidoluysian atrophy (DRPLA), except for the absence of intranuclear inclusions and the presence of intracytoplasmic inclusions in the pons, striatum, thalamus, and subthalamic nucleus. This case expands the clinical and neuropathological spectrum of DRPLA and supports the hypothesis that aggregates may not be intrinsically pathogenic. © 2006 Movement Disorder Society

Url:

https://api.istex.fr/document/033FC5369A3C0B2A2C348FD3D03EDCD1C24E6CD1/fulltext/pdf

DOI: 10.1002/mds.21158

Affiliations:

Le document en format XML

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Movement Disorders (revue)

Rapidly progressive sporadic dentatorubral pallidoluysian atrophy with intracytoplasmic inclusions and no CAG repeat expansion

Rapidly progressive sporadic dentatorubral pallidoluysian atrophy with intracytoplasmic inclusions and no CAG repeat expansion

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)
	Attention, ce site est en cours de développement ! Attention, site généré par des moyens informatiques à partir de corpus bruts. Les informations ne sont donc pas validées.