title: Adult-onset Huntington's disease that presented without chorea.
abstract: We herein report a case of late-onset Huntington's disease (HD) that presented without any involuntary movement. The patient was in her forties at onset, and she lacked any rigidity; thus, the HD in this case was completely different than the Westphal variant. The diagnosis was made by confirming the expansion of CAG repeats in the HD gene after obtaining information about her sister's clinical features, since her sister presented with typical HD. In late onset HD, involuntary movement is thought to be the core feature; therefore, the clinical features of this case are considered to be unique and noteworthy.
authors.affiliation: Department of Molecular Neuroscience on Neurodegeneration, Graduate School of Medicine, The University of Tokyo, Japan.
authors.forename: Atsushi
authors.initials: A
authors.lastname: Iwata
authors.forename: Kenji
authors.initials: K
authors.lastname: Ishihara
authors.forename: Shoji
authors.initials: S
authors.lastname: Tsuji
mesh_terms: D000328:Adult; D017668:Age of Onset; D000368:Aged; D001284:Atrophy; D001921:Brain / Q000473:pathology; D002819:Chorea / Q000235:genetics; D018450:Disease Progression; D005260:Female; D006801:Humans; D000071058:Huntingtin Protein; D006816:Huntington Disease / Q000175:diagnosis* / Q000235:genetics / Q000503:physiopathology; D008279:Magnetic Resonance Imaging; D008875:Middle Aged; D009419:Nerve Tissue Proteins / Q000235:genetics; D019680:Trinucleotide Repeat Expansion
chemical_list: C086055:HTT protein, human; D000071058:Huntingtin Protein; D009419:Nerve Tissue Proteins