KEGG DISEASE: Friedreich ataxia

KEGG

DISEASE: Friedreich ataxia

Entry

H00067                      Disease

Name

Friedreich ataxia

Supergrp

Spinocerebellar degeneration [DS:H01616]

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

Brite

Human diseases in ICD-11 classification [BR:br08403]
08 Diseases of the nervous system
  Movement disorders
   8A03  Ataxic disorders
    H00067  Friedreich ataxia

Pathway

Porphyrin metabolism

Gene

FXN (GAA repeat expansion) [HSA:2395] [KO:K19054]

Drug

Omaveloxolone [DR:D10964]

Comment

Disease class: mitochondrial disorder
Affected region: spinal cord, peripheral nerves
Microscopic lesion: brain iron accumulation

Other DBs

ICD-11:

ICD-10:

MeSH:

OMIM:

Reference

Authors

Pandolfo M

Title

Friedreich ataxia.

Journal

Arch Neurol 65:1296-303 (2008)
DOI:10.1001/archneur.65.10.1296

Reference

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

Reference

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

Reference

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

Reference

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

LinkDB

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