Rhythmic pupillary oscillation in Creutzfeldt-Jakob disease associated with the Glu/Lys mutation of prion protein codon 200.
Identifieur interne : 001634 ( PubMed/Checkpoint ); précédent : 001633; suivant : 001635Rhythmic pupillary oscillation in Creutzfeldt-Jakob disease associated with the Glu/Lys mutation of prion protein codon 200.
Auteurs : Kaori Nagasaka [Japon] ; Emiko Ohta ; Takamura Nagasaka ; Shinji Togashi ; Michiaki Miwa ; Yuki Nakamura ; Kazumasa Shindo ; Zenji ShiozawaSource :
- Movement disorders : official journal of the Movement Disorder Society [ 1531-8257 ] ; 2010.
English descriptors
- KwdEn :
- MESH :
- chemical , genetics : Glutamic Acid, Lysine, Prions.
- complications : Creutzfeldt-Jakob Syndrome.
- etiology : Pupil Disorders.
- genetics : Mutation, Pupil Disorders.
- methods : Magnetic Resonance Imaging.
- pathology : Pupil Disorders.
- Aged, Female, Humans, Male, Periodicity.
Abstract
We report two Creutzfeldt-Jakob disease (CJD) patients with rhythmic pupillary and palpebral oscillation who had a mutation of prion protein codon 200 that resulted in the substitution of lysine for glutamate (Glu/Lys). Alternating dilation and constriction of the pupils combined with elevation and descent of the eyelids occurred in correspondence with periodic sharp wave complexes (PSWCs) on the electroencephalogram and with myoclonus of the head, face, and extremities. The onset of pupillary dilation and palpebral elevation coincided with the PSWCs. Initiation of these rhythmic pupillary and palpebral movements may depend on sympathetic activity, but the site of the generator is unclear. Such rhythmic pupillary and palpebral oscillation may be a feature of rapidly progressive CJD with predominant right hemispheric involvement.
DOI: 10.1002/mds.22884
PubMed: 20077484
Affiliations:
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pubmed:20077484Le document en format XML
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<term>Humans</term>
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<front><div type="abstract" xml:lang="en">We report two Creutzfeldt-Jakob disease (CJD) patients with rhythmic pupillary and palpebral oscillation who had a mutation of prion protein codon 200 that resulted in the substitution of lysine for glutamate (Glu/Lys). Alternating dilation and constriction of the pupils combined with elevation and descent of the eyelids occurred in correspondence with periodic sharp wave complexes (PSWCs) on the electroencephalogram and with myoclonus of the head, face, and extremities. The onset of pupillary dilation and palpebral elevation coincided with the PSWCs. Initiation of these rhythmic pupillary and palpebral movements may depend on sympathetic activity, but the site of the generator is unclear. Such rhythmic pupillary and palpebral oscillation may be a feature of rapidly progressive CJD with predominant right hemispheric involvement.</div>
</front>
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