title: Chorea as a clinical feature of the basophilic inclusion body disease subtype of fused-in-sarcoma-associated frontotemporal lobar degeneration.
abstract: Choreoathetoid involuntary movements are rarely reported in patients with frontotemporal lobar degeneration (FTLD), suggesting their exclusion as a supportive feature in clinical diagnostic criteria for FTLD. Here, we identified three cases of the behavioral variant of frontotemporal dementia (bvFTD) that display chorea with fused in sarcoma (FUS)-positive inclusions (FTLD-FUS) and the basophilic inclusion body disease (BIBD) subtype. We determined the behavioral and cognitive features in this group that were distinct from other FTLD-FUS cases. We also reviewed the clinical records of 72 FTLD cases, and clarified additional clinical features that are predictive of the BIBD pathology. Symptom onset in the three patients with chorea was at 44.0 years of age (±12.0 years), and occurred in the absence of a family history of dementia. The cases were consistent with a clinical form of FTD known as bvFTD, as well as reduced neurological muscle tone in addition to chorea. The three patients showed no or mild parkinsonism, which by contrast, increased substantially in the other FTLD cases until a later stage of disease. The three patients exhibited severe caudate atrophy, which has previously been reported as a histological feature distinguishing FTLD-FUS from FTLD-tau or FTLD-TAR DNA-binding protein 43. Thus, our findings suggest that the clinical feature of choreoathetosis in bvFTD might be associated with FTLD-FUS, and in particular, with the BIBD subtype.
authors.affiliation: Dementia Research Project, Tokyo Metropolitan Institute of Medical Science, 2-1-6 Kamikitazawa, Setagaya-ku, Tokyo, 156-8506, Japan. kawakami-it@igakuken.or.jp.|Department of Psychiatry, Tokyo Metropolitan Matsuzawa Hospital (TMMH), Tokyo, Japan. kawakami-it@igakuken.or.jp.
authors.forename: Ito
authors.initials: I
authors.lastname: Kawakami
authors.affiliation: Department of Neurology, JA Toride Medical Center, Ibaraki, Japan.
authors.forename: Zen
authors.initials: Z
authors.lastname: Kobayashi
authors.affiliation: Dementia Research Project, Tokyo Metropolitan Institute of Medical Science, 2-1-6 Kamikitazawa, Setagaya-ku, Tokyo, 156-8506, Japan.|Division of Clinical Medicine, Department of Neuropsychiatry, Faculty of Medicine, University of Tsukuba, Ibaraki, Japan.
authors.forename: Tetsuaki
authors.initials: T
authors.lastname: Arai
authors.affiliation: Department of Neuropsychiatry, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama, Japan.
authors.forename: Osamu
authors.initials: O
authors.lastname: Yokota
authors.affiliation: Dementia Research Project, Tokyo Metropolitan Institute of Medical Science, 2-1-6 Kamikitazawa, Setagaya-ku, Tokyo, 156-8506, Japan.
authors.forename: Takashi
authors.initials: T
authors.lastname: Nonaka
authors.affiliation: Department of Psychiatry, Yokohama City University, School of Medicine, Kanagawa, Japan.
authors.forename: Naoya
authors.initials: N
authors.lastname: Aoki
authors.affiliation: Department of Psychiatry, Tokyo Metropolitan Matsuzawa Hospital (TMMH), Tokyo, Japan.
authors.forename: Kazuhiro
authors.initials: K
authors.lastname: Niizato
authors.affiliation: Department of Psychiatry, Tokyo Metropolitan Matsuzawa Hospital (TMMH), Tokyo, Japan.
authors.forename: Kenichi
authors.initials: K
authors.lastname: Oshima
authors.affiliation: Division of Clinical Medicine, Department of Neuropsychiatry, Faculty of Medicine, University of Tsukuba, Ibaraki, Japan.
authors.forename: Shinji
authors.initials: S
authors.lastname: Higashi
authors.affiliation: Department of Psychiatry, Yokohama City University, School of Medicine, Kanagawa, Japan.
authors.forename: Omi
authors.initials: O
authors.lastname: Katsuse
authors.affiliation: Dementia Research Project, Tokyo Metropolitan Institute of Medical Science, 2-1-6 Kamikitazawa, Setagaya-ku, Tokyo, 156-8506, Japan.
authors.forename: Masato
authors.initials: M
authors.lastname: Hosokawa
authors.affiliation: Dementia Research Project, Tokyo Metropolitan Institute of Medical Science, 2-1-6 Kamikitazawa, Setagaya-ku, Tokyo, 156-8506, Japan.
authors.forename: Masato
authors.initials: M
authors.lastname: Hasegawa
authors.affiliation: Dementia Research Project, Tokyo Metropolitan Institute of Medical Science, 2-1-6 Kamikitazawa, Setagaya-ku, Tokyo, 156-8506, Japan.
authors.forename: Haruhiko
authors.initials: H
authors.lastname: Akiyama
mesh_terms: D000328:Adult; D000368:Aged; D001921:Brain / Q000473:pathology*; D002819:Chorea / Q000503:physiopathology*; D005260:Female; D057174:Frontotemporal Lobar Degeneration / Q000378:metabolism* / Q000473:pathology*; D006801:Humans; D002479:Inclusion Bodies / Q000378:metabolism / Q000473:pathology*; D008297:Male; D008875:Middle Aged; D009460:Neurologic Examination; D034702:RNA-Binding Protein FUS / Q000378:metabolism*
chemical_list: D034702:RNA-Binding Protein FUS
keywords: BIBD; Chorea; FTLD-FUS; Involuntary movement; Parkinsonism; bvFTD