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Machado–Joseph disease (MJD), also known as Machado–Joseph Azorean disease or Joseph's disease or Spinocerebellar ataxia type 3 (SCA3), is a rare autosomal, dominantly inherited neurodegenerative disease that causes progressive cerebellar ataxia,〔Paulson, H. (2011, March 8). Spinocerebellar Ataxia Type 3. In R. A. Pagon, T. D. Bird, C. R. Dolan, & K. Stephens (Eds.), GeneReviews. Seattle, WA: University of Washington. Retrieved from http://www.ncbi.nlm.nih.gov/books/NBK1196/〕 which results in a lack of muscle control and coordination of the upper and lower extremities.〔Machado-Joseph Disease Fact Sheet. 11 December 2007. National Institute of Neurological Disorder & Stroke. 24 Mar. 2008 〕 The symptoms are caused by a genetic mutation that results in an expansion of abnormal "CAG" trinucleotide repeats in the ATXN3 gene 〔 that results in an abnormal form of the protein ataxin which causes degeneration of cells in the hindbrain.〔 Some symptoms, such as clumsiness and rigidity, make MJD commonly mistaken for drunkenness and/or Parkinson's disease. Machado–Joseph disease is a type of spinocerebellar ataxia and is the most common cause of autosomal-dominant ataxia.〔 MJD causes ophthalmoplegia and mixed sensory and cerebellar ataxia. ==History== The disease was first identified in 1972. Unlike many other medical conditions, Machado–Joseph disease isn't named after researchers. It is named after two men ("William Machado" and "Antone Joseph") who were the patriarchs of the families in which the condition was initially described.〔(【引用サイトリンク】title=SCA-3 - Ataxia Center in the Medical School at the University of Minnesota )〕 The above families are of Azorean descent, an ethnic group in which the disease is most prevalent. The highest prevalence of the condition is on the Azorean island of Flores where around 1 in 140 individuals in the population are diagnosed with MJD.〔(【引用サイトリンク】 Machado-Joseph Disease Fact Sheet )〕 抄文引用元・出典: フリー百科事典『 ウィキペディア（Wikipedia）』 ■ウィキペディアで「Machado–Joseph disease」の詳細全文を読む スポンサード リンク
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