Format

Send to:

Choose Destination

Friedreich ataxia with retained reflexes(FARR)

MedGen UID:
376121
Concept ID:
C1847416
Disease or Syndrome
Synonyms: FARR
 
OMIM®: 229300; 606829

Recent clinical studies

Etiology

Martinez AR, Moro A, Abrahao A, Faber I, Borges CR, Rezende TJ, Martins CR Jr, Moscovich M, Munhoz RP, Segal SL, Arruda WO, Saraiva-Pereira ML, Karuta S, Pedroso JL, D'Abreu A, Jardim LB, Lopes-Cendes Í, Barsottini OG, Teive HA, França MC Jr
Cerebellum 2017 Feb;16(1):253-256. doi: 10.1007/s12311-015-0755-8. PMID: 26754264
Lecocq C, Charles P, Azulay JP, Meissner W, Rai M, N'Guyen K, Péréon Y, Fabre N, Robin E, Courtois S, Guyant-Maréchal L, Zagnoli F, Rudolf G, Renaud M, Sévin-Allouet M, Lesne F, Alaerts N, Goizet C, Calvas P, Eusebio A, Guissart C, Derkinderen P, Tison F, Brice A, Koenig M, Pandolfo M, Tranchant C, Dürr A, Anheim M
Mov Disord 2016 Jan;31(1):62-9. Epub 2015 Sep 21 doi: 10.1002/mds.26382. PMID: 26388117
Pedroso JL, Braga-Neto P, Ricarte IF, Albuquerque MV, Barsottini OG
Arq Neuropsiquiatr 2013 Jun;71(6):345-8. doi: 10.1590/0004-282X20130036. PMID: 23828538
Bhidayasiri R, Perlman SL, Pulst SM, Geschwind DH
Arch Neurol 2005 Dec;62(12):1865-9. doi: 10.1001/archneur.62.12.1865. PMID: 16344344
Marzouki N, Belal S, Benhamida C, Benlemlih M, Hentati F
Clin Genet 2001 Apr;59(4):257-62. PMID: 11298681

Diagnosis

Lecocq C, Charles P, Azulay JP, Meissner W, Rai M, N'Guyen K, Péréon Y, Fabre N, Robin E, Courtois S, Guyant-Maréchal L, Zagnoli F, Rudolf G, Renaud M, Sévin-Allouet M, Lesne F, Alaerts N, Goizet C, Calvas P, Eusebio A, Guissart C, Derkinderen P, Tison F, Brice A, Koenig M, Pandolfo M, Tranchant C, Dürr A, Anheim M
Mov Disord 2016 Jan;31(1):62-9. Epub 2015 Sep 21 doi: 10.1002/mds.26382. PMID: 26388117
Parkinson MH, Boesch S, Nachbauer W, Mariotti C, Giunti P
J Neurochem 2013 Aug;126 Suppl 1:103-17. doi: 10.1111/jnc.12317. PMID: 23859346
Pedroso JL, Braga-Neto P, Ricarte IF, Albuquerque MV, Barsottini OG
Arq Neuropsiquiatr 2013 Jun;71(6):345-8. doi: 10.1590/0004-282X20130036. PMID: 23828538
Verma R, Gupta M
BMJ Case Rep 2012 Dec 14;2012 doi: 10.1136/bcr-2012-007496. PMID: 23242090Free PMC Article
Schwartz IV, Jardim LB, Puga AC, Cocozza S, Leistner S, Lima LC
Arq Neuropsiquiatr 1999 Mar;57(1):1-5. PMID: 10347715

Therapy

Verma R, Gupta M
BMJ Case Rep 2012 Dec 14;2012 doi: 10.1136/bcr-2012-007496. PMID: 23242090Free PMC Article

Prognosis

Palau F, Espinós C
Orphanet J Rare Dis 2006 Nov 17;1:47. doi: 10.1186/1750-1172-1-47. PMID: 17112370Free PMC Article
Filla A, De Michele G, Coppola G, Federico A, Vita G, Toscano A, Uncini A, Pisanelli P, Barone P, Scarano V, Perretti A, Santoro L, Monticelli A, Cavalcanti F, Caruso G, Cocozza S
Mov Disord 2000 Nov;15(6):1255-8. PMID: 11104216
Klopstock T, Chahrokh-Zadeh S, Holinski-Feder E, Meindl A, Gasser T, Pongratz D, Müller-Felber W
Acta Neuropathol 1999 Feb;97(2):139-42. PMID: 9928824
Moseley ML, Benzow KA, Schut LJ, Bird TD, Gomez CM, Barkhaus PE, Blindauer KA, Labuda M, Pandolfo M, Koob MD, Ranum LP
Neurology 1998 Dec;51(6):1666-71. PMID: 9855520
Harding AE
J Neurol Neurosurg Psychiatry 1981 Jun;44(6):503-8. PMID: 7276963Free PMC Article

Clinical prediction guides

Lecocq C, Charles P, Azulay JP, Meissner W, Rai M, N'Guyen K, Péréon Y, Fabre N, Robin E, Courtois S, Guyant-Maréchal L, Zagnoli F, Rudolf G, Renaud M, Sévin-Allouet M, Lesne F, Alaerts N, Goizet C, Calvas P, Eusebio A, Guissart C, Derkinderen P, Tison F, Brice A, Koenig M, Pandolfo M, Tranchant C, Dürr A, Anheim M
Mov Disord 2016 Jan;31(1):62-9. Epub 2015 Sep 21 doi: 10.1002/mds.26382. PMID: 26388117
Verma R, Gupta M
BMJ Case Rep 2012 Dec 14;2012 doi: 10.1136/bcr-2012-007496. PMID: 23242090Free PMC Article
Bouhlal Y, El-Euch-Fayeche G, Amouri R, Hentati F
Acta Myol 2005 Oct;24(2):155-61. PMID: 16550933
Marzouki N, Belal S, Benhamida C, Benlemlih M, Hentati F
Clin Genet 2001 Apr;59(4):257-62. PMID: 11298681
Monrós E, Moltó MD, Martínez F, Cañizares J, Blanca J, Vílchez JJ, Prieto F, de Frutos R, Palau F
Am J Hum Genet 1997 Jul;61(1):101-10. PMID: 9245990Free PMC Article

Supplemental Content

Table of contents

    Clinical resources

    Consumer resources

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...
    Support Center