Journal Article Chorea as a clinical feature of the basophilic inclusion body disease subtype of fused-in-sarcoma-associated frontotemporal lobar degeneration

Kawakami, Ito  ,  Kobayashi, Zen  ,  Arai, Tetsuaki  ,  Yokota, Osamu  ,  Nonaka, Takashi  ,  Aoki, Naoya  ,  Niizato, Kazuhiro  ,  Oshima, Kenichi  ,  Katsuse, Omi  ,  Hosokawa, Masato  ,  Hasegawa, Masato  ,  Akiyama, Haruhiko  ,  Higashi, Shinji

4p.36 , 2016-04 , BioMed Central
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 identifiedthree 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 thebehavioral and cognitive features in this group that were distinct from other FTLD-FUS cases. We also reviewed theclinical 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 theabsence of a family history of dementia. The cases were consistent with a clinical form of FTD known as bvFTD, aswell 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 patientsexhibited severe caudate atrophy, which has previously been reported as a histological feature distinguishing FTLD-FUSfrom FTLD-tau or FTLD-TAR DNA-binding protein 43. Thus, our findings suggest that the clinical feature ofchoreoathetosis in bvFTD might be associated with FTLD-FUS, and in particular, with the BIBD subtype.

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