An immigrant family with Kii amyotrophic lateral sclerosis/parkinsonism-dementia complex.

OBJECTIVES: Amyotrophic lateral sclerosis/parkinsonism-dementia complex (ALS/PDC) is a unique endemic on Guam island of the USA, the Kii Peninsula of Japan, and Papua state of Indonesia. The pathomechanism of ALS/PDC remains to be solved, although interaction between some environmental factors and genetic background is plausible. This is the first autopsy-proven immigrant family of ALS/PDC of the Kii Peninsula. METHODS: A daughter and her father immigrated to the high incident area from outside the Kii Peninsula. The father developed ALS 18 years later after immigration, and his daughter also developed ALS 65 years after immigration. They showed pure ALS phenotype without parkinsonism and dementia. RESULTS: The daughter was diagnosed neuropathologically with Kii ALS/PDC with multiple proteinopathies: tauopathy, α-synucleinopathy, and TDP-43 proteinopathy. Gene analysis of familial ALS-related genes, including C9orf72, showed no mutation. DISCUSSION: The findings in an immigrant family established that certain environmental factors play a critical role in the pathogenesis of Kii ALS/PDC.

Important Clinical Features of Japanese Spotted Fever.

Japanese spotted fever (JSF) is a zoonosis transmitted by ticks carrying the pathogen Rickettsia japonica. The classic triad of JSF symptoms is high fever, erythema, and tick bite eschar. About 200 people in Japan develop the disease every year. Japanese spotted fever is also a potentially fatal disease. At Minami-Ise Municipal Hospital in Japan, 55 patients were diagnosed with JSF from 2007 to 2015, which was equivalent to 4.3% of the total JSF cases in Japan. In this retrospective study, we examined the medical records of these 55 JSF cases. Fever, erythema, eschar, and elevated C-reactive protein (CRP) are characteristic clinical features of the disease. We confirmed four of these in the reviewed cases; however, eschar was not present in occasional cases. We confirmed that eosinopenia appeared in nearly all cases. Using fever, erythema, elevated CRP, and eosinopenia in diagnostic screening, our positivity rate was 90.9%. In our clinical practice, including eosinopenia improves the initial diagnosis of JSF.