Abstract
Seven HD gene positive individuals under the age of 21 years are described with clinical examination and proton-MR-spectroscopy ((1)H-MRS) profiles of the putamen. Despite clinical variability, the predominate (1)H-MRS abnormality is elevated glutamate, expressed well beyond the confines of the basal ganglia, and low striatal creatine.
(c) 2008 Movement Disorder Society.
MeSH terms
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Adolescent
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Aspartic Acid / analogs & derivatives
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Aspartic Acid / metabolism
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Brain Mapping
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Child
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Child, Preschool
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Creatine / metabolism
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Female
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Glutamic Acid / metabolism
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Humans
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Huntington Disease / diagnosis*
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Huntington Disease / genetics
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Magnetic Resonance Spectroscopy / methods*
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Male
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Protons
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Putamen / metabolism
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Trinucleotide Repeats / genetics
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Young Adult
Substances
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Protons
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Aspartic Acid
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Glutamic Acid
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N-acetylaspartate
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Creatine