- 著者
- Kazuhiro Ishii Ai Hosaka Kaori Adachi Eiji Nanba Akira Tamaoka
- 出版者
- The Japanese Society of Internal Medicine
- 雑誌
- Internal Medicine (ISSN:09182918)
- 巻号頁・発行日
- vol.49, no.12, pp.1205-1208, 2010 (Released:2010-06-15)
- 参考文献数
- 23
- 被引用文献数
- 6 9
A 71-year-old man developed postural tremor and was treated as an essential tremor patient. Nine years after the tremor onset, he developed symptoms resembling Fragile-X-associated tremor/ataxia syndrome (FXTAS), including exacerbated (increased coarseness and amplitude) tremor in the right arm, ataxic gait, and brain MRI showed lesions in the bilateral middle cerebellar peduncles (MCP). Evidence of premutation in the form of 83 CGG repeats of the Fragile-X-mental retardation 1 (FMR1) gene confirmed the diagnosis of FXTAS. FXTAS causes various neurological symptoms including in some cases tremor resembling essential tremor in the early stages. FMR1 gene premutation should be checked when the patient develops intention tremor, cerebral dysfunction and/or a brain MRI shows MCP lesions.
- 著者
- Tetsuya Okazaki Kaori Adachi Kaori Matsuura Yoshitaka Oyama Madoka Nose Emi Shirahata Toshiaki Abe Takeshi Hasegawa Toshiro Maihara Yoshihiro Maegaki Eiji Nanba
- 出版者
- Tottori University Medical Press
- 雑誌
- Yonago Acta Medica (ISSN:13468049)
- 巻号頁・発行日
- vol.64, no.1, pp.30-33, 2021 (Released:2021-02-22)
- 参考文献数
- 13
- 被引用文献数
- 4
Background Fragile X syndrome (FXS) is a well-known X-linked disorder clinically characterized by intellectual disability and autistic features. However, diagnosed Japanese FXS cases have been fewer than expected, and clinical features of Japanese FXS patients remain unknown.Methods We evaluated the clinical features of Japanese FXS patients using the results of a questionnaire-based survey.Results We presented the characteristics of seven patients aged 6 to 20 years. Long face and large ears were observed in five of seven patients. Macrocephaly was observed in four of five patients. The meaningful word was first seen at a certain time point between 18 and 72 months (median = 60 months). Developmental quotient or intellectual quotient ranged between 20 and 48 (median = 29). Behavioral disorders were seen in all patients (autistic spectrum disorder in six patients, hyperactivity in five patients). Five patients were diagnosed by polymerase chain reaction analysis, and two patients were diagnosed by the cytogenetic study. All physicians ordered FXS genetic testing for suspicious cases because of clinical manifestations.Conclusion In the present study, a long face, large ears, macrocephaly, autistic spectrum disorder, and hyperactivity were observed in almost cases, and these characteristics might be common features in Japanese FXS patients. Our finding indicated the importance of clinical manifestations to diagnosis FXS. However, the sample size of the present study is small, and these features are also seen to patients with other disorders. We consider that genetic testing for FXS should be performed on a wider range of intellectually disabled cases.
- 著者
- Toshinori Tanaka Nobukazu Tanaka Yukio Nagano Hirotaka Kanuka Daisuke S. Yamamoto Natsuko Yamamoto Eiji Nanba Takumi Nishiuchi
- 出版者
- Academic Consociation of Environmental Safety and Waste Management, Japan
- 雑誌
- 環境と安全 (ISSN:18844375)
- 巻号頁・発行日
- pp.E19SC0801, (Released:2019-10-07)
- 参考文献数
- 12
Gene drive is a powerful system that can spread a desirable genetic trait into an entire species and/or population of a certain region,bypassing Mendelian rules of inheritance. Recently, one of the genome editing technologies, CRISPR/Cas, has been developed, making it easier to use gene drive in many different organisms. However, gene drive has potential risks that impact genetic diversity when organisms produced by CRISPR/Cas-based Gene Drive Technology (CCGDT) are accidentally released; therefore, a high degree of prudence is required when CCGDT is used.In Japan, a Working Group on Gene Drive has been established in the Academic Association for Promotion of Genetic Studies (AAPGS), and a Statement on the Handling of Gene Drive was issued to the public including research institute across Japan, after comprehensive and extensive discussions by the working group in order to reduce risks posed by CCGDT. A national-wide survey on CCGDT was implemented. The survey revealed that those in managerial positions including members and secretariats of institutional review boards on recombinant DNA, and biosafety officers are conscious of CCGDT, and efforts to grasp experimental plans involving CCGDT are made by utilizing an application form for recombinant DNA experiment. In contrast, potential risks of CCGDT are not understood by many researchers. All stakeholders need to disseminate potential risks and preventive measures regarding CCGDT to all researchers who may wish to use this technology. Researchers should use CCGDT upon understanding its potential risks and taking necessary measures. This report refers to how safety measures for CRISPR/Cas-based gene drive technology which has potential risks to ecological system has been discussed and results of national-wide questionnaire survey on gene drive in Japan based on the poster presentation at the Asian Conference on Safety & Education in Laboratory 2018.