| H00067 | |
| H number | H00067 |
| Name | Friedreich ataxia |
| Description | 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. |
| Category | Neurodegenerative disease |
| Network | - |
| Gene | FXN; frataxin (GAA repeat expansion) [HSA:2395] [KO:K19054] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | Omaveloxolone [DR:D10964] |
| Comment | Disease class: mitochondrial disorder Affected region: spinal cord, peripheral nerves Microscopic lesion: brain iron accumulation |
| Other DBs | ICD-11: 8A03.10 ICD-10: G11.1 MeSH: D005621 OMIM: 229300 |
| Reference | PMID:18852343 AUTHORS Pandolfo M TITLE Friedreich ataxia. JOURNAL Arch Neurol 65:1296-303 (2008) DOI:10.1001/archneur.65.10.1296 PMID:17596984 AUTHORS Babady NE, Carelle N, Wells RD, Rouault TA, Hirano M, Lynch DR, Delatycki MB, Wilson RB, Isaya G, Puccio H TITLE Advancements in the pathophysiology of Friedreich's Ataxia and new prospects for treatments. JOURNAL Mol Genet Metab 92:23-35 (2007) DOI:10.1016/j.ymgme.2007.05.009 PMID:16942541 AUTHORS Finsterer J. TITLE Central nervous system manifestations of mitochondrial disorders. JOURNAL Acta Neurol Scand 114:217-38 (2006) DOI:10.1111/j.1600-0404.2006.00671.x PMID:16805775 AUTHORS Kwong JQ, Beal MF, Manfredi G. TITLE The role of mitochondria in inherited neurodegenerative diseases. JOURNAL J Neurochem 97:1659-75 (2006) DOI:10.1111/j.1471-4159.2006.03990.x PMID:15896810 AUTHORS Calabrese V, Lodi R, Tonon C, D'Agata V, Sapienza M, Scapagnini G, Mangiameli A, Pennisi G, Stella AM, Butterfield DA TITLE Oxidative stress, mitochondrial dysfunction and cellular stress response in Friedreich's ataxia. JOURNAL J Neurol Sci 233:145-62 (2005) DOI:10.1016/j.jns.2005.03.012 |