Matsubara, Tomoyasu Tokyo Metropolitan Geriatric Hospital & Institute of Gerontology
Sumikura, Hiroyuki Tokyo Metropolitan Geriatric Hospital & Institute of Gerontology
Takeuchi, Toshiaki Tokushima University
Maruyama Saladini, Keiko Tokushima University|Novartis Pharma K.K.
Udaka, Fukashi Sumitomo Hospital
Kume, Kodai Hiroshima University
Kawakami, Hideshi Hiroshima University
Hasegawa, Masato Tokyo Metropolitan Institute of Medical Science
Murayama, Shigeo Tokyo Metropolitan Geriatric Hospital & Institute of Gerontology
Amyotrophic lateral sclerosis
Progressive supranuclear palsy
TAR DNA-binding protein 43 kDa (TDP-43)
Background: The coexistence of distinct neurodegenerative diseases in single cases has recently attracted greater attention. The phenotypic co-occurrence of progressive supranuclear palsy (PSP) and amyotrophic lateral sclerosis (ALS) has been documented in several cases. That said, the clinicopathological comorbidity of these two diseases has not been demonstrated.
Case presentation: A 77-year-old man presented with gait disturbance for 2 years, consistent with PSP with progressive gait freezing. At 79 years old, he developed muscle weakness compatible with ALS. The disease duration was 5 years after the onset of PSP and 5months after the onset of ALS. Neuropathological findings demonstrated the coexistence of PSP and ALS. Immunohistochemical examination confirmed 4-repeat tauopathy, including globose-type neurofibrillary tangles, tufted astrocytes, and oligodendroglial coiled bodies as well as TAR DNA-binding protein 43 kDa pathology in association with upper and lower motor neuron degeneration. Immunoblotting showed hyperphosphorylated full-length 4-repeat tau bands (64 and 68 kDa) and C-terminal fragments (33 kDa), supporting the diagnosis of PSP and excluding other parkinsonian disorders, such as corticobasal degeneration. Genetic studies showed no abnormalities in genes currently known to be related to ALS or PSP.
Conclusions: Our case demonstrates the clinicopathological comorbidity of PSP and ALS in a sporadic patient. The possibility of multiple proteinopathies should be considered when distinct symptoms develop during the disease course.
Springer Nature|BioMed Central
© The Author(s). 2019 Open Access This article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.
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