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


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2016-12

AUTHORS

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

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. More... »

PAGES

36

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  • Identifiers

    URI

    http://scigraph.springernature.com/pub.10.1186/s40478-016-0304-9

    DOI

    http://dx.doi.org/10.1186/s40478-016-0304-9

    DIMENSIONS

    https://app.dimensions.ai/details/publication/pub.1029515409

    PUBMED

    https://www.ncbi.nlm.nih.gov/pubmed/27044537


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