Abstract
Juvenile Huntington's disease (JHD) is mostly characterized by rigidity, myoclonus, bradykinesia, dystonia and seizure. We report a 9-year-old male JHD patient presenting excessive blinking as the initial symptom two years prior to typical JHD symptoms. Genetic analysis revealed expansion of 108 CAG repeats and magnetic resonance imaging showed caudate atrophy with lateral ventricular enlargement.
Publication types
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Case Reports
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Research Support, Non-U.S. Gov't
MeSH terms
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Age of Onset
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Atrophy / etiology
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Atrophy / pathology
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Blinking*
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Caudate Nucleus / pathology
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Caudate Nucleus / physiopathology
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Child, Preschool
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DNA Mutational Analysis
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Diagnosis, Differential
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Disease Progression
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Female
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Humans
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Huntingtin Protein
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Huntington Disease / diagnosis*
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Huntington Disease / genetics
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Huntington Disease / physiopathology*
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Inheritance Patterns / genetics
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Lateral Ventricles / pathology
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Magnetic Resonance Imaging
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Male
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Mutation
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Nerve Tissue Proteins / genetics
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Nuclear Proteins / genetics
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Pedigree
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Tics / diagnosis*
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Tics / genetics
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Tics / physiopathology*
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Trinucleotide Repeat Expansion / genetics*
Substances
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HTT protein, human
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Huntingtin Protein
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Nerve Tissue Proteins
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Nuclear Proteins