Rapidly progressive sporadic dentatorubral pallidoluysian atrophy with intracytoplasmic inclusions and no CAG repeat expansion
Identifieur interne : 003224 ( Main/Exploration ); précédent : 003223; suivant : 003225Rapidly 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.
Descripteurs français
- Pascal (Inist)
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:
DOI: 10.1002/mds.21158
Affiliations:
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Le document en format XML
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<front><div type="abstract" xml:lang="en">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</div>
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