Genetic etiologies of at least 20% of autosomal dominant cerebellar ataxias (ADCAs) have yet to be clarified. We identified a novel spinocerebellar ataxia (SCA) form in four Japanese pedigrees which is caused by an abnormal CAG expansion in the TATA-binding protein (TBP) gene, a general transcription initiation factor. Consequently, it has been added to the group of polyglutamine diseases. This abnormal expansion of glutamine tracts in TBP bears 47--55 repeats, whereas the normal repeat number ranges from 29 to 42. Immunocytochemical examination of a postmortem brain which carried 48 CAG repeats detected neuronal intranuclear inclusion bodies that stained with anti-ubiquitin antibody, anti-TBP antibody and with the 1C2 antibody that recognizes specifically expanded pathological polyglutamine tracts. We therefore propose that this new disease be called SCA17 (TBP disease).
A survey of psoriasis patients from 1982-2001 has been reported by the Japanese Society for Psoriasis Research. The aim of this study is to analyze psoriasis patients in Japan registered from 2002-2008. A total of 11 631 cases were registered from 152 dermatological institutions in Japan. Males (7738 cases, 66.5%) were predominant over females (3893 cases, 33.5%). The clinical types of psoriasis were psoriasis vulgaris (88.5%), guttate psoriasis (3.9%), psoriasis arthropathica (3.3%), generalized pustular psoriasis (1.3%), psoriatic erythroderma (1.2%), localized pustular psoriasis (0.9%) and infantile psoriasis (0.1%). Topical corticosteroids (85.4%) and vitamin D(3) (59.7%) products were the main previous topical agents. Previous systemic treatments included etretinate (8.8%), cyclosporin (8.3%) and methotrexate (2.0%). Use of topical vitamin D(3) and systemic cyclosporin therapies has been increasing during the past 7 years. Topical psoralen and ultraviolet A therapy (PUVA) (7.6%) was the predominant phototherapy followed by UV-B (7.3%) and systemic PUVA (4.7%). Use of UV-B phototherapy has been increasing during the past 5 years. The survey of Japanese psoriasis patients during 2002-2008 disclosed that psoriasis arthropathica is more prevalent (1%) than that of the previous survey during 1982-2001. Use of topical vitamin D(3) and systemic cyclosporin has been increasing during the past 7 years.
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