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
- Hereditary Spinal Ataxia, Friedreich's
- 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
- Hereditary Spinal Ataxia, Friedreich
- Sclerosis, Hereditary Spinal
- Friedreich Disease
- Disease, Friedreich
- Friedreich's Disease
- Disease, Friedreich's
- 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 Familial Ataxia
- Ataxia, Friedreich's Familial
- Familial Ataxia, Friedreich's
- Friedreichs Familial Ataxia
- Friedreich's Hereditary Spinal Ataxia
- Friedreich's Ataxia
- Ataxia, Friedreich's
- Hereditary Spinal Sclerosis
- Hereditary Spinal Scleroses
- Scleroses, Hereditary Spinal
- Spinal Scleroses, Hereditary
- Spinal Sclerosis, Hereditary
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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.
To see the data from this visualization as text, click here.
Year | Major Topic | Minor Topic | Total |
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1998 | 1 | 0 | 1 | 2005 | 1 | 0 | 1 | 2006 | 1 | 0 | 1 | 2007 | 1 | 0 | 1 | 2008 | 1 | 0 | 1 | 2010 | 2 | 0 | 2 | 2012 | 2 | 0 | 2 | 2013 | 1 | 0 | 1 | 2016 | 1 | 0 | 1 | 2019 | 1 | 0 | 1 | 2021 | 1 | 0 | 1 |
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Below are the most recent publications written about "Friedreich Ataxia" by people in Profiles.
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Rummey C, Flynn JM, Corben LA, Delatycki MB, Wilmot G, Subramony SH, Bushara K, Duquette A, Gomez CM, Hoyle JC, Roxburgh R, Seeberger L, Yoon G, Mathews KD, Zesiewicz T, Perlman S, Lynch DR. Scoliosis in Friedreich's ataxia: longitudinal characterization in a large heterogeneous cohort. Ann Clin Transl Neurol. 2021 06; 8(6):1239-1250.
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Xiong E, Lynch AE, Corben LA, Delatycki MB, Subramony SH, Bushara K, Gomez CM, Hoyle JC, Yoon G, Ravina B, Mathews KD, Wilmot G, Zesiewicz T, Susan Perlman M, Farmer JM, Rummey C, Lynch DR. Health related quality of life in Friedreich Ataxia in a large heterogeneous cohort. J Neurol Sci. 2020 Mar 15; 410:116642.
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Shinnick JE, Schadt K, Strawser C, Wilcox N, Perlman SL, Wilmot GR, Gomez CM, Mathews KD, Yoon G, Zesiewicz T, Hoyle C, Subramony SH, Yiu EM, Delatycki MB, Brocht AF, Farmer JM, Lynch DR. Comorbid Medical Conditions in Friedreich Ataxia: Association With Inflammatory Bowel Disease and Growth Hormone Deficiency. J Child Neurol. 2016 08; 31(9):1161-5.
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Seyer LA, Galetta K, Wilson J, Sakai R, Perlman S, Mathews K, Wilmot GR, Gomez CM, Ravina B, Zesiewicz T, Bushara KO, Subramony SH, Ashizawa T, Delatycki MB, Brocht A, Balcer LJ, Lynch DR. Analysis of the visual system in Friedreich ataxia. J Neurol. 2013 Sep; 260(9):2362-9.
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Regner SR, Wilcox NS, Friedman LS, Seyer LA, Schadt KA, Brigatti KW, Perlman S, Delatycki M, Wilmot GR, Gomez CM, Bushara KO, Mathews KD, Subramony SH, Ashizawa T, Ravina B, Brocht A, Farmer JM, Lynch DR. Friedreich ataxia clinical outcome measures: natural history evaluation in 410 participants. J Child Neurol. 2012 Sep; 27(9):1152-8.
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Evans-Galea MV, Carrodus N, Rowley SM, Corben LA, Tai G, Saffery R, Galati JC, Wong NC, Craig JM, Lynch DR, Regner SR, Brocht AF, Perlman SL, Bushara KO, Gomez CM, Wilmot GR, Li L, Varley E, Delatycki MB, Sarsero JP. FXN methylation predicts expression and clinical outcome in Friedreich ataxia. Ann Neurol. 2012 Apr; 71(4):487-97.
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Iltis I, Hutter D, Bushara KO, Clark HB, Gross M, Eberly LE, Gomez CM, Oz G. (1)H MR spectroscopy in Friedreich's ataxia and ataxia with oculomotor apraxia type 2. Brain Res. 2010 Oct 28; 1358:200-10.
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Friedman LS, Farmer JM, Perlman S, Wilmot G, Gomez CM, Bushara KO, Mathews KD, Subramony SH, Ashizawa T, Balcer LJ, Wilson RB, Lynch DR. Measuring the rate of progression in Friedreich ataxia: implications for clinical trial design. Mov Disord. 2010 Mar 15; 25(4):426-32.
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Epstein E, Farmer JM, Tsou A, Perlman S, Subramony SH, Gomez CM, Ashizawa T, Wilmot GR, Mathews K, Wilson RB, Balcer LJ, Lynch DR. Health related quality of life measures in Friedreich Ataxia. J Neurol Sci. 2008 Sep 15; 272(1-2):123-8.
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Myers L, Farmer JM, Wilson RB, Friedman L, Tsou A, Perlman SL, Subramony SH, Gomez CM, Ashizawa T, Wilmot GR, Mathews KD, Balcer LJ, Lynch DR. Antioxidant use in Friedreich ataxia. J Neurol Sci. 2008 Apr 15; 267(1-2):174-6.
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