Friedreich Ataxia
"Friedreich Ataxia" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus,
MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure,
which enables searching at various levels of specificity.
An autosomal recessive disease, usually of childhood onset, characterized pathologically by degeneration of the spinocerebellar tracts, posterior columns, and to a lesser extent the corticospinal tracts. Clinical manifestations include GAIT ATAXIA, pes cavus, speech impairment, lateral curvature of spine, rhythmic head tremor, kyphoscoliosis, congestive heart failure (secondary to a cardiomyopathy), and lower extremity weakness. Most forms of this condition are associated with a mutation in a gene on chromosome 9, at band q13, which codes for the mitochondrial protein frataxin. (From Adams et al., Principles of Neurology, 6th ed, p1081; N Engl J Med 1996 Oct 17;335(16):1169-75) The severity of Friedreich ataxia associated with expansion of GAA repeats in the first intron of the frataxin gene correlates with the number of trinucleotide repeats. (From Durr et al, N Engl J Med 1996 Oct 17;335(16):1169-75)
Descriptor ID |
D005621
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MeSH Number(s) |
C10.228.140.252.700.150 C10.228.854.787.200 C10.574.500.825.200 C16.320.400.780.200 C18.452.660.300
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Concept/Terms |
Friedreich Ataxia- Friedreich Ataxia
- Ataxia, Friedreich
- Ataxias, Friedreich
- Friedreich Ataxias
- Friedreich Familial Ataxia
- Ataxia, Friedreich Familial
- Familial Ataxia, Friedreich
- Friedreich Hereditary Ataxia
- Ataxia, Friedreich Hereditary
- Hereditary Ataxia, Friedreich
- Friedreich Hereditary Spinal Ataxia
- Friedreich Spinocerebellar Ataxia
- Ataxia, Friedreich Spinocerebellar
- Spinocerebellar Ataxia, Friedreich
- Friedreich's Ataxia
- Ataxia, Friedreich's
- Friedreich's Disease
- Disease, Friedreich's
- Friedreich's Familial Ataxia
- Ataxia, Friedreich's Familial
- Familial Ataxia, Friedreich's
- Friedreichs Familial Ataxia
- Friedreich's Hereditary Ataxia
- Ataxia, Friedreich's Hereditary
- Ataxias, Friedreich's Hereditary
- Friedreich's Hereditary Ataxias
- Friedreichs Hereditary Ataxia
- Hereditary Ataxia, Friedreich's
- Hereditary Ataxias, Friedreich's
- Friedreich's Hereditary Spinal Ataxia
- Hereditary Spinal Ataxia, Friedreich
- Hereditary Spinal Ataxia, Friedreich's
- Hereditary Spinal Sclerosis
- Hereditary Spinal Scleroses
- Scleroses, Hereditary Spinal
- Spinal Scleroses, Hereditary
- Spinal Sclerosis, Hereditary
- Sclerosis, Hereditary Spinal
- Friedreich Disease
- Disease, Friedreich
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Below are MeSH descriptors whose meaning is more general than "Friedreich Ataxia".
Below are MeSH descriptors whose meaning is more specific than "Friedreich Ataxia".
This graph shows the total number of publications written about "Friedreich Ataxia" by people in this website by year, and whether "Friedreich Ataxia" was a major or minor topic of these publications.
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Year | Major Topic | Minor Topic | Total |
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2004 | 1 | 0 | 1 | 2005 | 0 | 1 | 1 | 2007 | 1 | 0 | 1 | 2008 | 2 | 0 | 2 | 2009 | 1 | 0 | 1 | 2010 | 7 | 0 | 7 | 2011 | 2 | 0 | 2 | 2012 | 6 | 0 | 6 | 2013 | 3 | 0 | 3 | 2014 | 5 | 0 | 5 | 2015 | 3 | 0 | 3 | 2016 | 5 | 0 | 5 | 2017 | 3 | 1 | 4 | 2018 | 4 | 0 | 4 | 2019 | 2 | 0 | 2 |
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Below are the most recent publications written about "Friedreich Ataxia" by people in Profiles.
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Marty B, Naeije G, Bourguignon M, Wens V, Jousmäki V, Lynch DR, Gaetz W, Goldman S, Hari R, Pandolfo M, De Tiège X. Evidence for genetically determined degeneration of proprioceptive tracts in Friedreich ataxia. Neurology. 2019 07 09; 93(2):e116-e124.
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Lynch DR, Hauser L, McCormick A, Wells M, Dong YN, McCormack S, Schadt K, Perlman S, Subramony SH, Mathews KD, Brocht A, Ball J, Perdok R, Grahn A, Vescio T, Sherman JW, Farmer JM. Randomized, double-blind, placebo-controlled study of interferon-? 1b in Friedreich Ataxia. Ann Clin Transl Neurol. 2019 03; 6(3):546-553.
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Nachun D, Gao F, Isaacs C, Strawser C, Yang Z, Dokuru D, Van Berlo V, Sears R, Farmer J, Perlman S, Lynch DR, Coppola G. Peripheral blood gene expression reveals an inflammatory transcriptomic signature in Friedreich's ataxia patients. Hum Mol Genet. 2018 09 01; 27(17):2965-2977.
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Ejaz R, Chen S, Isaacs CJ, Carnevale A, Wilson J, George K, Delatycki MB, Perlman SL, Mathews KD, Wilmot GR, Hoyle JC, Subramony SH, Zesiewicz T, Farmer JM, Lynch DR, Yoon G. Impact of Mobility Device Use on Quality of Life in Children With Friedreich Ataxia. J Child Neurol. 2018 05; 33(6):397-404.
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Wang Q, Guo L, Strawser CJ, Hauser LA, Hwang WT, Snyder NW, Lynch DR, Mesaros C, Blair IA. Low apolipoprotein A-I levels in Friedreich's ataxia and in frataxin-deficient cells: Implications for therapy. PLoS One. 2018; 13(2):e0192779.
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Guo L, Wang Q, Weng L, Hauser LA, Strawser CJ, Rocha AG, Dancis A, Mesaros C, Lynch DR, Blair IA. Liquid Chromatography-High Resolution Mass Spectrometry Analysis of Platelet Frataxin as a Protein Biomarker for the Rare Disease Friedreich's Ataxia. Anal Chem. 2018 02 06; 90(3):2216-2223.
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Long A, Napierala JS, Polak U, Hauser L, Koeppen AH, Lynch DR, Napierala M. Somatic instability of the expanded GAA repeats in Friedreich's ataxia. PLoS One. 2017; 12(12):e0189990.
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Napierala JS, Li Y, Lu Y, Lin K, Hauser LA, Lynch DR, Napierala M. Comprehensive analysis of gene expression patterns in Friedreich's ataxia fibroblasts by RNA sequencing reveals altered levels of protein synthesis factors and solute carriers. Dis Model Mech. 2017 11 01; 10(11):1353-1369.
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Feingold B, Mahle WT, Auerbach S, Clemens P, Domenighetti AA, Jefferies JL, Judge DP, Lal AK, Markham LW, Parks WJ, Tsuda T, Wang PJ, Yoo SJ. Management of Cardiac Involvement Associated With Neuromuscular Diseases: A Scientific Statement From the American Heart Association. Circulation. 2017 Sep 26; 136(13):e200-e231.
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McCormick A, Shinnick J, Schadt K, Rodriguez R, Addonizio L, Hirano M, Perlman S, Lin KY, Lynch DR. Cardiac transplantation in Friedreich Ataxia: Extended follow-up. J Neurol Sci. 2017 Apr 15; 375:471-473.
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