FRDA FXN
Disease ID
FRDA
Gene ID
FXN
Updated
Feb 5, 2025
v2.2.1
v2.2.1
Disease
Name
Friedreich ataxia
Inheritance
Autosomal recessive Description
Age of Onset Details
Locus
Details
Alleles
Ref. Motif
GAA
Pathogenic (ref.)
GAA
Pathogenic (gene)
AAG
gnomAD
References
Direct supporting references for info on this page.
3
Profiling of Short-Tandem-Repeat Disease Alleles in 12,632 Human Whole Genomes.
Haibao,Tang, Ewen F,Kirkness, Christoph,Lippert, William H,Biggs, Martin,Fabani, Ernesto,Guzman, Smriti,Ramakrishnan, Victor,Lavrenko, Boyko,Kakaradov, Claire,Hou, Barry,Hicks, David,Heckerman, Franz J,Och, C Thomas,Caskey, J Craig,Venter, Amalio,Telenti
American journal of human genetics · 2017-11-02
pmid:291000845
Sequence variation in GAA repeat expansions may cause differential phenotype display in Friedreich's ataxia.
D O,McDaniel, B,Keats, V V,Vedanarayanan, S H,Subramony
Movement disorders : official journal of the Movement Disorder Society · 2001-11-01
pmid:117487526
Clinical and genetic abnormalities in patients with Friedreich's ataxia.
A,Dürr, M,Cossee, Y,Agid, V,Campuzano, C,Mignard, C,Penet, J L,Mandel, A,Brice, M,Koenig
The New England journal of medicine · 1996-10-17
pmid:88159387
Diseases of unstable repeat expansion: mechanisms and common principles.
Jennifer R,Gatchel, Huda Y,Zoghbi
Nature reviews. Genetics · 2005-10-01
pmid:162057148
Clinical and neuroimaging review of triplet repeat diseases.
Ryo,Kurokawa, Mariko,Kurokawa, Akihiko,Mitsutake, Moto,Nakaya, Akira,Baba, Yasuhiro,Nakata, Toshio,Moritani, Osamu,Abe
Japanese journal of radiology · 2022-09-28
pmid:361697689
Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion.
V,Campuzano, L,Montermini, M D,Moltò, L,Pianese, M,Cossée, F,Cavalcanti, E,Monros, F,Rodius, F,Duclos, A,Monticelli, F,Zara, J,Cañizares, H,Koutnikova, S I,Bidichandani, C,Gellera, A,Brice, P,Trouillas, G,De Michele, A,Filla, R,De Frutos, F,Palau, P I,Patel, S,Di Donato, J L,Mandel, S,Cocozza, M,Koenig, M,Pandolfo
Science (New York, N.Y.) · 1996-03-08
pmid:8596916Additional Literature
Additional literature related to this locus.
Raw PubMed search results
(All PubMed results returned by searching for this gene, tandem
repeats, and disease, in medline format)
Diagnosis of hereditary ataxias: a real-world single center experience.
Adriana,Meli, Vincenzo,Montano, Giovanni,Palermo, Antonella,Fogli, Anna,Rocchi, Annalisa Lo,Gerfo, Rossella,Maltomini, Ludovica,Cori, Antonio,Siniscalchi, Clara,Bernardini, Giulia,Cecchi, Gabriele,Siciliano, Roberto,Ceravolo, Maria Adelaide,Caligo, Michelangelo,Mancuso, Piervito,Lopriore
Journal of neurology · 2025-01-15
pmid:39812846Friedreich Ataxia: An (Almost) 30-Year History After Gene Discovery.
Massimo,Pandolfo
Neurology. Genetics · 2025-01-13
pmid:39810753Friedreich ataxia: what can we learn from non-GAA repeat mutations?
David R,Lynch, M,Shen, Robert B,Wilson
Neurodegenerative disease management · 2025-01-15
pmid:39810561Assessment of the Clinical Interactions of GAA Repeat Expansions in
Brandon J,Gerhart, David,Pellerin, Matt C,Danzi, Stephan,Zuchner, Bernard,Brais, Gabriel,Matos-Rodrigues, Andre,Nussenzweig, Karen,Usdin, Courtney C,Park, Jill S,Napierala, David R,Lynch, Marek,Napierala
Neurology. Genetics · 2024-11-20
pmid:39574782Screening for SCA27B, CANVAS and other repeat expansion disorders in Greek patients with late-onset cerebellar ataxia suggests a need to update current diagnostic algorithms.
Georgios,Koutsis, Chrisoula,Kartanou, Zoi,Kontogeorgiou, Chrysoula,Koniari, Alexandros,Mitrousias, David,Pellerin, Marie-Jose,Dicaire, Pablo,Iruzubieta, Matt C,Danzi, Konstantinos,Athanassopoulos, Nikolaos,Ragazos, Maria,Stamelou, Michail,Rentzos, Evangelos,Anagnostou, Stephan,Zuchner, Bernard,Brais, Henry,Houlden, Marios,Panas, Leonidas,Stefanis, Georgia,Karadima
Journal of the neurological sciences · 2024-11-15
pmid:39571249Differential Gene Expression in Late-Onset Friedreich Ataxia: A Comparative Transcriptomic Analysis Between Symptomatic and Asymptomatic Sisters.
Sara,Petrillo, Alessia,Perna, Andrea,Quatrana, Gabriella,Silvestri, Enrico,Bertini, Fiorella,Piemonte, Massimo,Santoro
International journal of molecular sciences · 2024-10-29
pmid:39519164Uniparental IsoDisomy: a case study on a new mechanism of Friedreich ataxia.
Brian,Sperelakis-Beedham, Cyril,Gitiaux, Marine,Rajaoba, Maryse,Magen, Nicolas,Derive, Jerome,Chansard, Jean-Madeleine,de Sainte Agathe, Marie-Laure,Maurin, Zahra,Assouline, Christine,Barnerias, Isabelle,Desguerre, Julie,Steffann, Giulia,Barcia
European journal of human genetics : EJHG · 2024-11-04
pmid:39496895Case Report of Friedreich's Ataxia and ALG1 -Related Biochemical Abnormalities in a Patient With Progressive Spastic Paraplegia.
Aisling,Quinlan, Lance,Rodan, Elizabeth,Barkoudah, Amy,Tam, Afshin,Saffari, Ibrahim,Shammas, Wasantha,Ranatunga, Eva,Morava-Kozicz, Devin,Oglesbee, Gerald,Berry, Darius,Ebrahimi-Fakhari, Siddharth,Srivastava
American journal of medical genetics. Part A · 2024-09-26
pmid:39324476Unusual Age-Dependent Behavior of Leukocytes Telomere Length in Friedreich's Ataxia.
Daniela,Scarabino, Liana,Veneziano, Suran,Nethisinghe, Elide,Mantuano, Alessia,Fiore, Giulia,Granata, Nita,Solanky, Ginevra,Zanni, Francesca,Cavalcanti, Rosa Maria,Corbo, Paola,Giunti
Movement disorders : official journal of the Movement Disorder Society · 2024-09-05
pmid:39235665