| H00067 | |
| H番号 | H00067 |
| 名称 | フリードライヒ運動失調症 |
| 概要 | Friedreich ataxia is one of the most common forms of autosomal recessive ataxia caused by severely reduced levels of frataxin as a result of a large GAA triplet-repeat expansion within the first intron of the frataxin gene. Frataxin deficiency is thought to cause generation of reactive oxygen species, reactive nitrogen species and mitochondrial dysfunction. |
| カテゴリ | 神経変性疾患 |
| ネットワーク | - |
| 病因遺伝子 | FXN; frataxin (GAA repeat expansion) [HSA:2395] [KO:K19054] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | Disease class: mitochondrial disorder Affected region: spinal cord, peripheral nerves Microscopic lesion: brain iron accumulation |
| リンク | ICD-11: 8A03.10 ICD-10: G11.1 MeSH: D005621 OMIM: 229300 |
| 文献 | PMID:18852343 著者 Pandolfo M タイトル Friedreich ataxia. 雑誌 Arch Neurol 65:1296-303 (2008) DOI:10.1001/archneur.65.10.1296 PMID:17596984 著者 Babady NE, Carelle N, Wells RD, Rouault TA, Hirano M, Lynch DR, Delatycki MB, Wilson RB, Isaya G, Puccio H タイトル Advancements in the pathophysiology of Friedreich's Ataxia and new prospects for treatments. 雑誌 Mol Genet Metab 92:23-35 (2007) DOI:10.1016/j.ymgme.2007.05.009 PMID:16942541 著者 Finsterer J. タイトル Central nervous system manifestations of mitochondrial disorders. 雑誌 Acta Neurol Scand 114:217-38 (2006) DOI:10.1111/j.1600-0404.2006.00671.x PMID:16805775 著者 Kwong JQ, Beal MF, Manfredi G. タイトル The role of mitochondria in inherited neurodegenerative diseases. 雑誌 J Neurochem 97:1659-75 (2006) DOI:10.1111/j.1471-4159.2006.03990.x PMID:15896810 著者 Calabrese V, Lodi R, Tonon C, D'Agata V, Sapienza M, Scapagnini G, Mangiameli A, Pennisi G, Stella AM, Butterfield DA タイトル Oxidative stress, mitochondrial dysfunction and cellular stress response in Friedreich's ataxia. 雑誌 J Neurol Sci 233:145-62 (2005) DOI:10.1016/j.jns.2005.03.012 |