著者

Takamichi Kanbayashi Shunsuke Kobayashi Yuki Hatanaka Jun Shimizu Masahiro Sonoo

出版者

The Japanese Society of Internal Medicine

雑誌

Internal Medicine (ISSN:09182918)

巻号頁・発行日

vol.62, no.22, pp.3397-3400, 2023-11-15 (Released:2023-11-15)

参考文献数

14

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Grip myotonia can be a clue for the diagnosis of myotonic disorders. However, several clinical conditions cause delayed finger opening mimicking grip myotonia. We herein report a 44-year-old man with idiopathic inflammatory myopathy who presented with delayed finger opening resembling grip myotonia. The delayed finger opening differed from grip myotonia given the absence of the warm-up phenomenon and percussion myotonia, relative sparing of the thumb extension, and pronounced weakness of the extensor digitorum. Focusing on the extension of the thumb and other fingers may aid in the differentiation between delayed finger opening and true grip myotonia.

著者

Nanaka Yamaguchi Tatsuo Mano Ryo Ohtomo Hiroyuki Ishiura M. Asem Almansour Harushi Mori Junko Kanda Yuichiro Shirota Kenichiro Taira Teppei Morikawa Masako Ikemura Yasuo Yanagi Shigeo Murayama Jun Shimizu Yasuhisa Sakurai Shoji Tsuji Atsushi Iwata

出版者

The Japanese Society of Internal Medicine

雑誌

Internal Medicine (ISSN:09182918)

巻号頁・発行日

vol.57, no.23, pp.3459-3462, 2018-12-01 (Released:2018-12-01)

参考文献数

10

被引用文献数

6 20

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Neuronal intranuclear inclusion disease (NIID) is a rare neurodegenerative disease with marked variety in its clinical manifestations. While characteristic neuroimaging and skin biopsy findings are important clues to the diagnosis, autopsy studies are still important for confirming the exact disease features. We herein report the case of a patient who received an antemortem diagnosis of familial NIID with dementia-dominant phenotype that was later confirmed by an autopsy. Our report is the first to document a case of autopsy-confirmed NIID involving both cognitive impairment and sensorimotor neuropathy.

著者

Masanori A. Murayama Nagisa Arimitsu Jun Shimizu Naruyoshi Fujiwara Kenji Takai Yoko Okada Chieko Hirotsu Erika Takada Tomoko Suzuki Noboru Suzuki

出版者

Japanese Association for Laboratory Animal Science

雑誌

Experimental Animals (ISSN:13411357)

巻号頁・発行日

vol.70, no.3, pp.387-397, 2021 (Released:2021-08-06)

参考文献数

71

被引用文献数

1 6

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Elderly patients with dementia suffer from cognitive dysfunctions and neuropsychiatric symptoms (NPS) such as anxiety and depression. Alzheimer’s disease (AD) is a form of age-related dementia, and loss of cholinergic neurons is intimately associated with development of AD symptoms. We and others have reported that neural cell transplantation ameliorated cognitive dysfunction in AD model mice. It remains largely unclear whether neural cell transplantation ameliorates the NPS of AD. It would be interesting to determine whether NPS correlates with cognitive dysfunctions before and after neural cell transplantation in AD model mice. Based on the revalidation of our previous data from a Morris water maze test, we found that neural cell transplantation improved anxiety and depression significantly and marginally affected locomotion activity in AD mice. A correlation analysis revealed that the spatial learning function of AD mice was correlated with their NPS scores both before and after cell transplantation in a similar manner. In contrast, in the mice subjected to cell transplantation, spatial reference memory function was not correlated with NPS scores. These results suggested the neural cell transplantation in the AD model mice significantly improved NPS to the same degree as cognitive dysfunctions, possibly via distinct mechanisms, such as the cholinergic and GABAergic systems.

著者

Masanori A. Murayama Nagisa Arimitsu Jun Shimizu Naruyoshi Fujiwara Kenji Takai Yoshiki Ikeda Yoko Okada Chieko Hirotsu Erika Takada Tomoko Suzuki Noboru Suzuki

出版者

Japanese Association for Laboratory Animal Science

雑誌

Experimental Animals (ISSN:13411357)

巻号頁・発行日

vol.70, no.3, pp.398-405, 2021 (Released:2021-08-06)

参考文献数

61

被引用文献数

1 4

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Alzheimer’s disease (AD) is a prevalent neurological disorder affecting memory function in elderly persons. Indeed, AD exhibits abnormality in cognitive behaviors and higher susceptibility to neuropsychiatric symptoms (NPS). Various factors including aging, sex difference and NPS severity, are implicated during in development of AD. In this study, we evaluated behavioral abnormalities of AD model, PDAPP transgenic mice at young age using the Morris Water Maze test, which was established to assess hippocampal-dependent learning and memory. We found that female AD model mice exhibited spatial learning dysfunction and highly susceptible to NPS such as anxiety and depression, whereas spatial reference memory function was comparable in female PDAPP Tg mice to female wild type (WT) mice. Spatial learning function was comparable in male AD model mice to male WT mice. Multiple regression analysis showed that spatial learning dysfunction was associated with NPS severity such as anxiety and depression. Furthermore, the analysis showed that spatial reference memory function was associated with status of depression, but not anxiety. Thus, these results suggest female dominance of spatial learning dysfunction in the AD model mice accompanying increased NPS severity. The understandings of AD model may be useful for the development of therapeutic agents and methods in human AD.

著者

Akatsuki Kubota Hiroyuki Ishiura Jun Mitsui Kaori Sakuishi Atsushi Iwata Tomotaka Yamamoto Ichizo Nishino Shoji Tsuji Jun Shimizu

出版者

The Japanese Society of Internal Medicine

雑誌

Internal Medicine (ISSN:09182918)

巻号頁・発行日

pp.9588-17, (Released:2017-12-08)

参考文献数

24

被引用文献数

6

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A complete loss of merosin, which is encoded by LAMA2, causes congenital muscular dystrophy with leukoencephalopathy. Partial merosin deficiency can be caused not only by primarily LAMA2 mutations, but also secondarily by dystroglycanopathy. Although it can be molecularly diagnosed based on a genetic analysis, this method is labor-intensive because of its huge genome size. A 26-year-old male patient presented with mild muscular weakness, joint contractures, and epilepsy. Double immunofluorescence staining of a muscle biopsy specimen showed mislocalization of merosin, and a genetic analysis revealed a homozygous c.818G>A (p.Arg273Lys) mutation in LAMA2. Double immunofluorescence staining and whole exome sequencing were useful for the diagnosis of partial merosin deficiency.