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Neurology
Article . 2004 . Peer-reviewed
Data sources: Crossref
Neurology
Article . 2005
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Strokelike presentation of Wilson disease with homozygosity for a novel T766R mutation

Authors: Pendlebury, S; Rothwell, P; Dalton, A; Burton, E;

Strokelike presentation of Wilson disease with homozygosity for a novel T766R mutation

Abstract

Wilson disease is an inherited autosomal recessive disorder in which there is copper accumulation particularly in the liver and brain. The onset is usually insidious, although acute liver or hematologic,1,2⇓ but not neurologic, syndromes have been described. We report a case of Wilson disease in which the patient had sudden onset of neurologic symptoms and signs leading to an initial misdiagnosis of stroke. A 17-year-old boy sought treatment at the emergency department; he had been well until that morning, when he had awoken with slurred speech, difficulty swallowing solids, and problems walking. He had also noticed intermittent involuntary movement of his thumbs across his palms. There was no remarkable medical or family history, although he had lost weight during the preceding year. He denied drug use and was taking no medication. The patient, his family, and the team …

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Keywords

Adenosine Triphosphatases, Dysarthria, Homozygote, Mutation, Missense, Basal Ganglia, Brain Ischemia, Amino Acid Substitution, Hepatolenticular Degeneration, Copper-Transporting ATPases, Mesencephalon, Humans, Point Mutation, Codon, Tomography, X-Ray Computed, Cation Transport Proteins, Gait Disorders, Neurologic

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    citations
    This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
    20
    popularity
    This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.
    Average
    influence
    This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
    Top 10%
    impulse
    This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.
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Powered by OpenAIRE graph
citations
This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Citations provided by BIP!
popularity
This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.
BIP!Popularity provided by BIP!
influence
This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Influence provided by BIP!
impulse
This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.
BIP!Impulse provided by BIP!
20
Average
Top 10%
Average
Green