Excessive blinking as an initial manifestation of juvenile Huntington's disease.
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.
Xing
Shihui
S
Department of Neurology, First Affiliated Hospital, Sun Yat-Sen University, Guangzhou, China.
Chen
Ling
L
Chen
Xi
X
Pei
Zhong
Z
Zeng
Jinsheng
J
Li
Jinru
J
D017668:Age of Onset; D001284:Atrophy / Q000209:etiology / Q000473:pathology; D001767:Blinking; D002421:Caudate Nucleus / Q000473:pathology / Q000503:physiopathology; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D003937:Diagnosis, Differential; D018450:Disease Progression; D005260:Female; D006801:Humans; D000071058:Huntingtin Protein; D006816:Huntington Disease / Q000175:diagnosis* / Q000235:genetics / Q000503:physiopathology*; D040582:Inheritance Patterns / Q000235:genetics; D020547:Lateral Ventricles / Q000473:pathology; D008279:Magnetic Resonance Imaging; D008297:Male; D009154:Mutation; D009419:Nerve Tissue Proteins / Q000235:genetics; D009687:Nuclear Proteins / Q000235:genetics; D010375:Pedigree; D020323:Tics / Q000175:diagnosis* / Q000235:genetics / Q000503:physiopathology*; D019680:Trinucleotide Repeat Expansion / Q000235:genetics*
C086055:HTT protein, human; D000071058:Huntingtin Protein; D009419:Nerve Tissue Proteins; D009687:Nuclear Proteins