Cited by 1,071Genetic Neurodegenerative DiseasesHereditary Neurological DisordersGlycogen Storage Diseases and Myoclonus

The DOI matches its Crossref record; 20 of the 20 references it cites were found in a registry or an index.

Clinical and Genetic Abnormalities in Patients with Friedreich's Ataxia

Open access

Dürr, Alexandra, Cossee, Mireille, Agid, Yves, Campuzano, Victoria, Mignard, Claude, Penet, Christiane, Mandel, Jean-Louis, Brice, Alexis, Koenig, Michel·1996·New England Journal of Medicine

DOI 10.1056/nejm199610173351601

Open this paper in CoChat — free account Open PDF

Abstract

BACKGROUND: Friedreich's ataxia, the most common inherited ataxia, is associated with a mutation that consists of an unstable expansion of GAA repeats in the first intron of the frataxin gene on chromosome 9, which encodes a protein of unknown function. METHODS: We studied 187 patients with autosomal recessive ataxia, determined the size of the GAA expansions, and analyzed the clinical manifestations in relation to the number of GAA repeats and the duration of disease. RESULTS: One hundred forty of the 187 patients, with ages at onset ranging from 2 to 51 years, were homozygous for a GAA expansion that had 120 to 1700 repeats of the trinucleotides. About one quarter of the patients, despite being homozygous, had atypical Friedreich's ataxia; they were older at presentation and had intact tendon reflexes. Larger GAA expansions correlated with earlier age at onset and shorter times to loss of ambulation. The size of the GAA expansions (and particularly that of the smaller of each pair) was associated with the frequency of cardiomyopathy and loss of reflexes in the upper limbs. The GAA repeats were unstable during transmission. CONCLUSIONS: The clinical spectrum of Friedreich's ataxia is broader than previously recognized, and the direct molecular test for the GAA expansion on chromosome 9 is useful for diagnosis, determination of prognosis, and genetic counseling.

The claims and statistics of this paper haven’t been checked yet.

Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.

Integrity signals

Registry

Crossref · 10.1056/nejm199610173351601

Cites

20 of 20 references verified0 citation errors · 0 not checkable

Statistics

Claims the paper makes

The claims and statistics of this paper haven’t been checked yet.

Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.

Claims other papers make about this one

Each is checked against this paper’s own text: does it say what the citing paper says it does?

Self-check

Percentages, sums and reported differences re-computed from the paper’s own numbers.

The self-check needs the paper’s full text.

Friedreich's Ataxia: Autosomal Recessive Disease Caused by an Intronic GAA Triplet Repeat Expansion
Campuzano, V., Montermini, L., Moltò, M. D., Pianese, L., Cossée, M., Cavalcanti, F., Monros, E., Rodius, F., Duclos, F., Monticelli, A., et al. (1996) · Science · doi:10.1126/science.271.5254.1423 · Cited by 2,786
Self-citation
Absence of expression of the FMR-1 gene in fragile X syndrome
Pieretti, M., Zhang, F., Fu, Y.-H., Warren, S. T., Oostra, B. A., Caskey, C. T., & Nelson, D. L. (1991) · Cell · doi:10.1016/0092-8674(91)90125-i · Cited by 1,476
FRIEDREICH'S ATAXIA: A CLINICAL AND GENETIC STUDY OF 90 FAMILIES WITH AN ANALYSIS OF EARLY DIAGNOSTIC CRITERIA AND INTRAFAMILIAL CLUSTERING OF CLINICAL FEATURES
Harding, A. E. (1981) · Brain · doi:10.1093/brain/104.3.589 · Cited by 929
The FMR–1 protein is cytoplasmic, most abundant in neurons and appears normal in carriers of a fragile X premutation
Devys, D., Lutz, Y., Rouyer, N., Bellocq, J., & Mandel, J. (1993) · Nature Genetics · doi:10.1038/ng0893-335 · Cited by 781
Self-citation
Cellular localization of the Huntington's disease protein and discrimination of the normal and mutated form
Trottier, Y., Devys, D., Imbert, G., Saudou, F., Gourfinkel‐An, I., Lutz, Y., Weber, C., Agid, Y., Hirsch, É. C., & Mandel, J. (1995) · Nature Genetics · doi:10.1038/ng0595-104 · Cited by 452
Self-citation
TRINUCLEOTIDE REPEAT EXPANSION AND HUMAN DISEASE
Ashley, C. T., & Warren, S. T. (1995) · Annual Review of Genetics · doi:10.1146/annurev.ge.29.120195.003415 · Cited by 400
Mapping of mutation causing Friedreich's ataxia to human chromosome 9
Chamberlain, S., Shaw, J., Rowland, A., Wallis, J., South, S., Nakamura, Y., von Gabain, A., Farrall, M., & Williamson, R. (1988) · Nature · doi:10.1038/334248a0 · Cited by 317
When more is less: Pathogenesis of glutamine repeat neurodegenerative diseases
Ross, C. A. (1995) · Neuron · doi:10.1016/0896-6273(95)90138-8 · Cited by 260
Localization of Friedreich ataxia phenotype with selective vitamin E deficiency to chromosome 8q by homozygosity mapping
Hamida, C. B., Doerflinger, N., Belal, S., Linder, C. Y., Reutenauer, L., Dib, C., Gyapay, G., Alain Vignal, A., Paslier, D. L., Cohen, D., et al. (1993) · Nature Genetics · doi:10.1038/ng1093-195 · Cited by 211
Self-citation
Late onset Friedreich's disease: clinical features and mapping of mutation to the FRDA locus.
Michele, G. D., Filla, A., Cavalcanti, F., Maio, L. D., Pianese, L., Castaldo, I., Calabrese, O., Monticelli, A., Varrone, S., & Campanella, G. (1994) · Journal of Neurology Neurosurgery & Psychiatry · doi:10.1136/jnnp.57.8.977 · Cited by 111

Show all 20 references

Research works printed but not linked: 1

Hanauer A, 1990, Am J Hum Genet, 46, 133

Sorted by citations

Items 401–500 of 1,000

Novel, complex interruptions of the GAA repeat in small, expanded alleles of two affected siblings with late‐onset Friedreich ataxia
Stolle, C. A., Frackelton, E. C., McCallum, J., Farmer, J. M., Tsou, A. Y., Wilson, R. B., & Lynch, D. R. (2008) · Movement Disorders · doi:10.1002/mds.22012 · Cited by 32
Longitudinal change in dysarthria associated with Friedreich ataxia: a potential clinical endpoint
Rosen, K. M., Folker, J. E., Vogel, A. P., Corben, L. A., Murdoch, B. E., & Delatycki, M. B. (2012) · Journal of Neurology · doi:10.1007/s00415-012-6547-x · Cited by 32
Hereditary Ataxia, Spastic Paraparesis and Neuropathy in the French-Canadian Population
Dupré, N., Bouchard, J.-P., Brais, B., & Rouleau, G. A. (2006) · Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques · doi:10.1017/s031716710000490x · Cited by 32
Mitochondrial involvement in genetically determined transition metal toxicity
Huang, X., O'Brien, P. J., & Templeton, D. M. (2006) · Chemico-Biological Interactions · doi:10.1016/j.cbi.2006.05.007 · Cited by 32
Sticky DNA: Effect of the Polypurine·Polypyrimidine Sequence*
Vetcher, A., Napierala, M., & Wells, R. (2002) · Journal of Biological Chemistry · doi:10.1074/jbc.m205210200 · Cited by 32
Deciphering the ferroptosis pathways in dorsal root ganglia of Friedreich ataxia models. The role of LKB1/AMPK, KEAP1, and GSK3β in the impairment of the NRF2 response
Sanz‐Alcázar, A., Portillo-Carrasquer, M., Delaspre, F., Pazos-Gil, M., Tamarit, J., Ros, J., & Cabiscol, E. (2024) · Redox Biology · doi:10.1016/j.redox.2024.103339 · Cited by 33
Clinical Neurogenetics
Collins, A. R. (2013) · Neurologic Clinics · doi:10.1016/j.ncl.2013.05.002 · Cited by 31
A Review of Friedreich Ataxia Clinical Trial Results
Perlman, S. (2012) · Journal of Child Neurology · doi:10.1177/0883073812453872 · Cited by 31
“Pseudodominant inheritance” of ataxia with ocular apraxia type 2 (AOA2)
Schöls, L. J., Arning, L., Schüle, R., Epplen, J. T., & Timmann, D. (2008) · Journal of Neurology · doi:10.1007/s00415-008-0707-z · Cited by 31
Friedreich ataxia with minimal GAA expansion presenting as adult-onset spastic ataxia
Berciano, J., Mateo, I., De‐Pablos‐Heredero, C., Polo, J. M., & Combarros, O. (2002) · Journal of the Neurological Sciences · doi:10.1016/s0022-510x(01)00681-5 · Cited by 31
Management and therapy for cardiomyopathy in Friedreich’s ataxia
Lynch, D. R., Regner, S. R., Schadt, K. A., Friedman, L. S., Lin, K. Y., & Sutton, M. G. S. J. (2012) · Expert Review of Cardiovascular Therapy · doi:10.1586/erc.12.57 · Cited by 33
Synchrotron X-ray Fluorescence Reveals Abnormal Metal Distributions in Brain and Spinal Cord in Spinocerebellar Ataxia: A Case Report
Popescu, B. F. G., Robinson, C. A., Chapman, D., & Nichol, H. K. (2009) · The Cerebellum · doi:10.1007/s12311-009-0102-z · Cited by 31
Drug repositioning screening identifies etravirine as a potential therapeutic for friedreich's ataxia
Alfedi, G., Luffarelli, R., Condò, I., Pedini, G., Mannucci, L., Massaro, D. S., Benini, M., Toschi, N., Alaimo, G., Panarello, L., et al. (2019) · Movement Disorders · doi:10.1002/mds.27604 · Cited by 31
Contrast Letter Acuity as a Measure of Visual Dysfunction in Patients with Friedreich Ataxia
Lynch, D. R., Farmer, J. M., Rochestie, D., & Balcer, L. J. (2002) · Journal of Neuro-Ophthalmology · doi:10.1097/00041327-200212000-00003 · Cited by 31
Mitochondrial Dysfunction in Friedreich's Ataxia: From Pathogenesis to Treatment Perspectives
Lodi, R., Rajagopalan, B., Bradley, J. L., Taylor, D. J., Crilley, J. G., Hart, P. E., Blamire, A. M., Manners, D. N., Styles, P., Schapira, A. H. V., et al. (2002) · Free Radical Research · doi:10.1080/10715760290021324 · Cited by 31
Friedreich's Ataxia
Pandolfo, M. (2006) · Elsevier eBooks · doi:10.1016/b978-012369462-1/50018-1 · Cited by 31
Predictors of Survival in Friedreich's Ataxia: A Prospective Cohort Study
Indelicato, E., Reetz, K., Maier, S. C., Nachbauer, W., Amprosi, M., Giunti, P., Mariotti, C., Dürr, A., Garrido, F. J. R. D. R., Klopstock, T., et al. (2023) · Movement Disorders · doi:10.1002/mds.29687 · Cited by 33
Self-citation
Radial diffusivity in the cerebellar peduncles correlates with clinical severity in Friedreich ataxia
von Hohenberg, C. C., Schocke, M. F. H., Wigand, M. C. C., Nachbauer, W., Guttmann, C. R. G., Kubicki, M. R., Shenton, M. E., Boesch, S., & Egger, K. E. (2013) · Neurological Sciences · doi:10.1007/s10072-013-1402-0 · Cited by 30
Genetic Variations Creating MicroRNA Target Sites in the FXN 3′-UTR Affect Frataxin Expression in Friedreich Ataxia
Bandiera, S., Cartault, F., Jannot, A., Hatem, E., Girard, M., Rifai, L., Loiseau, C., Münnich, A., Lyonnet, S., & Henrion‐Caude, A. (2013) · PLoS ONE · doi:10.1371/journal.pone.0054791 · Cited by 30
Pathophysiogical and therapeutic progress in Friedreich ataxia
Puccio, H. M., Anheim, M., & Tranchant, C. (2014) · Revue Neurologique · doi:10.1016/j.neurol.2014.03.008 · Cited by 31
Friedreich ataxia: metal dysmetabolism in dorsal root ganglia
Koeppen, A. H., Kuntzsch, E. C., Bjork, S. T., Ramirez, R. L., Mazurkiewicz, J. E., & Feustel, P. J. (2013) · Acta Neuropathologica Communications · doi:10.1186/2051-5960-1-26 · Cited by 30
Current Advances in Gene Therapies of Genetic Auditory Neuropathy Spectrum Disorder
Saidia, A. R., Ruel, J., Bahloul, A., Chaix, B., Venail, F., & Wang, J. (2023) · Journal of Clinical Medicine · doi:10.3390/jcm12030738 · Cited by 31
Circulating miR-323-3p is a biomarker for cardiomyopathy and an indicator of phenotypic variability in Friedreich’s ataxia patients
Seco-Cervera, M., Rodríguez, D. G., Ibáñez-Cabellos, J. S., Peiró-Chova, L., González‐Cabo, P., García-López, E., Vilchez, J. J., Sanz‐Gallego, I., Pallardó, F. V., & García‐Giménez, J. L. (2017) · Scientific Reports · doi:10.1038/s41598-017-04996-9 · Cited by 33
Sporadic adult-onset ataxia of unknown etiology
Klockgether, T. (2011) · Handbook of clinical neurology · doi:10.1016/b978-0-444-51892-7.00015-2 · Cited by 30
The Therapeutic Potential of Non-Invasive and Invasive Cerebellar Stimulation Techniques in Hereditary Ataxias
Benussi, A., Batsikadze, G., França, C., Cury, R. G., & Maas, R. P. P. W. M. (2023) · Cells · doi:10.3390/cells12081193 · Cited by 31
Transition of Thalassaemia and Friedreich ataxia from fatal to chronic diseases
Kolnagou, A. (2014) · World Journal of Methodology · doi:10.5662/wjm.v4.i4.197 · Cited by 29
Advantages and Limitations of Gene Therapy and Gene Editing for Friedreich’s Ataxia
Sivakumar, A., & Cherqui, S. (2022) · Frontiers in Genome Editing · doi:10.3389/fgeed.2022.903139 · Cited by 32
Frequency analysis and clinical characterization of different types of spinocerebellar ataxia in Serbian patients
Dragašević, N., Čuljković, B., Klein, C., Ristić, A. J., Marković, M. K., Topisirović, I., Vukosavić, S., Svetel, M. V., Kock, N., Stefanova, E. D., et al. (2005) · Movement Disorders · doi:10.1002/mds.20687 · Cited by 29
Phylogenetic Analysis of the Friedreich Ataxia GAA Trinucleotide Repeat
Justice, C., Den, Z., Nguyen, S. V., Stoneking, M., Deininger, P., Batzer, M., & Keats, B. (2001) · Journal of Molecular Evolution · doi:10.1007/s002390010151 · Cited by 32
The cognitive profile of Friedreich ataxia: a systematic review and meta-analysis
Naeije, G., Schulz, J. B., & Corben, L. A. (2022) · BMC Neurology · doi:10.1186/s12883-022-02615-3 · Cited by 29
MR spectroscopy and atrophy in Gluten, Friedreich’s and SCA6 ataxias
Hadjivassiliou, M., Wallis, L. I., Hoggard, N., Grünewald, R. A., Griffiths, P. D., & Wilkinson, I. D. (2011) · Acta Neurologica Scandinavica · doi:10.1111/j.1600-0404.2011.01620.x · Cited by 28
Large Interruptions of GAA Repeat Expansion Mutations in Friedreich Ataxia Are Very Rare
Al‐Mahdawi, S., Ging, H., Bayot, A., Cavalcanti, F., Cognata, V. L., Cavallaro, S., Giunti, P., & Pook, M. A. (2018) · Frontiers in Cellular Neuroscience · doi:10.3389/fncel.2018.00443 · Cited by 28
Abnormal cardiac energetics in patients carrying the A3243G mtDNA mutation measured in vivo using phosphorus MR spectroscopy
Lodi, R., Rajagopalan, B., Blamire, A. M., Crilley, J. G., Styles, P., & Chinnery, P. F. (2004) · Biochimica et Biophysica Acta (BBA) - Bioenergetics · doi:10.1016/j.bbabio.2004.05.003 · Cited by 28
Friedreich's ataxia: treatment within reach
Dürr, A. (2002) · The Lancet Neurology · doi:10.1016/s1474-4422(02)00162-x · Cited by 28
Self-citation
Hereditary Cerebellar Ataxia with Peripheral Neuropathy and Mental Retardation
Tachi, N., Kozuka, N., Ohya, K., Chiba, S., & Sasaki, K. (2000) · European Neurology · doi:10.1159/000008140 · Cited by 29
Molecular Defects in Friedreich’s Ataxia: Convergence of Oxidative Stress and Cytoskeletal Abnormalities
Smith, F. M., & Kosman, D. J. (2020) · Frontiers in Molecular Biosciences · doi:10.3389/fmolb.2020.569293 · Cited by 27
Friedreich’s Ataxia: a review from a cardiology perspective
Bourke, T., & Keane, D. (2011) · Irish Journal of Medical Science (1971 -) · doi:10.1007/s11845-011-0744-y · Cited by 27
Reversal of epigenetic promoter silencing in Friedreich ataxia by a class I histone deacetylase inhibitor
Chutake, Y. K., Lam, C. C., Costello, W. N., Anderson, M. P., & Bidichandani, S. I. (2016) · Nucleic Acids Research · doi:10.1093/nar/gkw107 · Cited by 29
Assessment of In Vitro and In Vivo Mitochondrial Function in Friedreich's Ataxia and Huntington's Disease
Schapira, A. H. V., & Lodi, R. (2004) · Humana Press eBooks · doi:10.1385/1-59259-804-8:293 · Cited by 26
Atypical Friedreich ataxia phenotype associated with a novel missense mutation in the X25 gene
Michele, G. D., Filla, A., Cavalcanti, F., Tammaro, A., Monticelli, A., Pianese, L., Salle, F. D., Perretti, A., Santoro, L., Caruso, G., et al. (2000) · Neurology · doi:10.1212/wnl.54.2.496 · Cited by 27
A systematic review of disease prevalence, health-related quality of life, and economic outcomes associated with Friedreich’s Ataxia
Buesch, K., & Zhang, R. (2022) · Current Medical Research and Opinion · doi:10.1080/03007995.2022.2112870 · Cited by 26
Neurodegenerative Diseases: New Hopes and Perspectives
Bhat, M. A., & Dhaneshwar, S. S. (2023) · Current Molecular Medicine · doi:10.2174/1566524023666230907093451 · Cited by 29
Friedreich ataxia
Pandolfo, M. (2011) · Handbook of clinical neurology · doi:10.1016/b978-0-444-51892-7.00017-6 · Cited by 26
Sirtuins in the Cardiovascular System: Potential Targets in Pediatric Cardiology
Ianni, A., Yuan, X., Bober, E., & Braun, T. W. (2018) · Pediatric Cardiology · doi:10.1007/s00246-018-1848-1 · Cited by 27
Longitudinal Strain in Friedreich Ataxia: A Potential Marker for Early Left Ventricular Dysfunction
Sutton, M. S. J., Ky, B., Regner, S. R., Schadt, K. A., Plappert, T. J., He, J., D'Souza, B. A., & Lynch, D. R. (2013) · Echocardiography · doi:10.1111/echo.12287 · Cited by 26
Short report: Friedreich's ataxia presenting after cardiac transplantation
Leonard, H. (2001) · Archives of Disease in Childhood · doi:10.1136/adc.84.2.167 · Cited by 26
Mesenchymal Stem Cells Restore Frataxin Expression and Increase Hydrogen Peroxide Scavenging Enzymes in Friedreich Ataxia Fibroblasts
Kemp, K. C., Mallam, E., Hares, K. M., Witherick, J., Scolding, N. J., & Wilkins, A. (2011) · PLoS ONE · doi:10.1371/journal.pone.0026098 · Cited by 26
Nonneurological Involvement in Late-Onset Friedreich Ataxia (LOFA): Exploring the Phenotypes
Martínez, A., Moro, A., Abrahão, A., Faber, I., Borges, C. R., de Rezende, T. J. R., Martins, C. R., Moscovich, M., Munhoz, R. P., Leistner‐Segal, S., et al. (2016) · The Cerebellum · doi:10.1007/s12311-015-0755-8 · Cited by 26
Disorders of the Brain
Schatzberg, S. J. (2008) · Elsevier eBooks · doi:10.1016/b978-1-4160-3949-5.50027-3 · Cited by 26
Alleviating GAA Repeat Induced Transcriptional Silencing of the Friedreich's Ataxia Gene During Somatic Cell Reprogramming
Polak, U., Li, Y., Napierala, J. S., & Напиерала, М. (2016) · Stem Cells and Development · doi:10.1089/scd.2016.0147 · Cited by 30
Urinary, bowel and sexual symptoms in a cohort of patients with Friedreich’s ataxia
Lad, M., Parkinson, M. H., Rai, M., Pandolfo, M., Bogdanova‐Mihaylova, P., Walsh, R. A., Murphy, S. M., Emmanuel, A. V., Panicker, J. N., & Giunti, P. (2017) · Orphanet Journal of Rare Diseases · doi:10.1186/s13023-017-0709-y · Cited by 28
Mutation of the start codon in the FRDA1 gene: linkage analysis of three pedigrees with the ATG to ATT transversion points to a unique common ancestor
Zühlke, C., Laccone, F. A., Cossée, M., Kohlschütter, A., Koenig, M., & SCHWINGER, E. (1998) · Human Genetics · doi:10.1007/s004390050791 · Cited by 26
Self-citation
Auditory neuropathy in Friedreich ataxia A report of two cases
López-Díaz-de-Le, E. (2003) · International Journal of Pediatric Otorhinolaryngology · doi:10.1016/s0165-5876(03)00036-3 · Cited by 26
REPORT on the Fifth International Workshop on Chromosome 9 held at Eynsham, Oxfordshire, UK, September 4–6, 1996
Povey, S., ATTWOOD, J., Chadwick, B. P., Frézal, J., Haines, J. L., Knowles, M. A., Kwiatkowski, D. J., Olopade, O. I., Slaugenhaupt, S. A., Spurr, N. K., et al. (1997) · Annals of Human Genetics · doi:10.1017/s0003480097006106 · Cited by 26
Diagnosis and management of adult hereditary cardio-neuromuscular disorders: A model for the multidisciplinary care of complex genetic disorders
Sommerville, R. B., Vincenti, M. G., Winborn, K., Casey, A., Stitziel, N. O., Connolly, A. M., & Mann, D. L. (2016) · Trends in Cardiovascular Medicine · doi:10.1016/j.tcm.2016.06.005 · Cited by 25
Early Detection and Intervention in Audiology
Beswick, R., Bornman, J., Casoojee, A., Chiwutsi, R., Driscoll, C., Fitzgibbons, J., Kanji, A., Khoza-Shangase, K., Maluleke, N., Moroe, N. F., et al. (2021) · Wits University Press eBooks · doi:10.18772/22021026567 · Cited by 25
Neuro-Ophthalmological Findings in Friedreich’s Ataxia
Rojas, P., de Hoz, R., Cadena, M., Salobrar‐García, E., Fernández‐Albarral, J. A., López‐Cuenca, I., Elvira‐Hurtado, L., Urcelay-Segura, J. L., Salazar, J. J., Ramirez, J. M., et al. (2021) · Journal of Personalized Medicine · doi:10.3390/jpm11080708 · Cited by 25
Nasality in Friedreich ataxia
Poole, M. L., Wee, J. S., Folker, J. E., Corben, L. A., Delatycki, M. B., & Vogel, A. P. (2014) · Clinical Linguistics & Phonetics · doi:10.3109/02699206.2014.954734 · Cited by 25
Age of onset determines intrinsic functional brain architecture in Friedreich ataxia
Naeije, G., Wens, V., Coquelet, N., Sjøgård, M., Goldman, S., Pandolfo, M., & Tiège, X. D. (2019) · Annals of Clinical and Translational Neurology · doi:10.1002/acn3.50966 · Cited by 25
Very late onset Friedreich’s presenting as spastic tetraparesis without ataxia or neuropathy
Lhatoo, S. D., Rao, D. G., Kane, N., & Ormerod, I. E. (2001) · Neurology · doi:10.1212/wnl.56.12.1776 · Cited by 25
Identification of three novel frameshift mutations in patients with Friedreich's ataxia
Pook, M. A., AL-MAHDAWI, S. A. H., THOMAS, N. H., APPLETON, R., NORMAN, A., Mountford, R., & CHAMBERLAIN, S. (2000) · Journal of Medical Genetics · doi:10.1136/jmg.37.11.e38 · Cited by 25
Test–retest reliability of the Friedreich’s ataxia rating scale
Rummey, C., Zesiewicz, T. A., Perez‐Lloret, S., Farmer, J. M., Pandolfo, M., & Lynch, D. R. (2020) · Annals of Clinical and Translational Neurology · doi:10.1002/acn3.51118 · Cited by 24
The smoothened agonist SAG reduces mitochondrial dysfunction and neurotoxicity of frataxin-deficient astrocytes
Vicente-Acosta, A., Giménez-Cassina, A., Díaz‐Nido, J., & Loría, F. (2022) · Journal of Neuroinflammation · doi:10.1186/s12974-022-02442-w · Cited by 19
Base Excision Repair of Chemotherapeutically-Induced Alkylated DNA Damage Predominantly Causes Contractions of Expanded GAA Repeats Associated with Friedreich's Ataxia
Lai, Y., Beaver, J. M., Lorente, K., Melo, J. A., Ramjagsingh, S., Agoulnik, I. U., Zhang, Z., & Liu, Y. (2014) · PLoS ONE · doi:10.1371/journal.pone.0093464 · Cited by 23
GAA expansion size and age at onset of Friedreich’s ataxia
Mateo, I., Llorca, J., Volpini, V., Corral, J., Berciano, J., & Combarros, O. (2003) · Neurology · doi:10.1212/01.wnl.0000073537.08141.77 · Cited by 24
Antioxidant Therapies and Oxidative Stress in Friedreich’s Ataxia: The Right Path or Just a Diversion?
Rodríguez, L. R., Lapeña-Luzón, T., Calap-Quintana, P., Moltó, M. D., González‐Cabo, P., & Navarro, J. A. (2020) · Antioxidants · doi:10.3390/antiox9080664 · Cited by 24
Cardiovascular complications of neuromuscular disorders
Sachdev, B., Elliot, P. M., & McKenna, W. J. (2002) · Current Treatment Options in Cardiovascular Medicine · doi:10.1007/s11936-002-0037-x · Cited by 24
Biochemistry of cardiomyopathy in the mitochondrial disease Friedreich's ataxia
Lane, D. J. R., Huang, M., Ting, S., Sivagurunathan, S., & Richardson, D. R. (2013) · Biochemical Journal · doi:10.1042/bj20130079 · Cited by 24
Left ventricular structural and functional changes in Friedreich ataxia – Relationship with body size, sex, age and genetic severity
Peverill, R. E., Romanelli, G., Donelan, L., HASSAM, R. M., Corben, L. A., & Delatycki, M. B. (2019) · PLoS ONE · doi:10.1371/journal.pone.0225147 · Cited by 23
Frataxin deficiency lowers lean mass and triggers the integrated stress response in skeletal muscle
Vásquez-Trincado, C., Dunn, J., Han, J. I., Hymms, B., Tamaroff, J. G., Patel, M., Nguyen, S., Dedio, A., Wade, K., Enigwe, C., et al. (2022) · JCI Insight · doi:10.1172/jci.insight.155201 · Cited by 23
AAV-vector based gene therapy for mitochondrial disease: progress and future perspectives
Hanaford, A. R., Cho, Y., & Nakai, H. (2022) · Orphanet Journal of Rare Diseases · doi:10.1186/s13023-022-02324-7 · Cited by 25
Spinal cord magnetic resonance imaging and spectroscopy detect early-stage alterations and disease progression in Friedreich ataxia
Joers, J. M., Adanyeguh, I. M., Deelchand, D. K., Hutter, D., Eberly, L. E., Iltis, I., Bushara, K. O., Lenglet, C., & Henry, P. (2022) · Brain Communications · doi:10.1093/braincomms/fcac246 · Cited by 23
Therapeutic strategies in Friedreich's Ataxia
Richardson, T. E., Kelly, H. N., Yu, A. E., & Simpkins, J. W. (2013) · Brain Research · doi:10.1016/j.brainres.2013.04.005 · Cited by 26
Test-retest reliability of an instrumented electronic walkway system (GAITRite) for the measurement of spatio-temporal gait parameters in young patients with Friedreich’s ataxia
Roche, B., Simon, A., Guilmin‐Crépon, S., Boizeau, P., Andriss, B., Alberti, C., Presedo, A., Ilharreborde, B., & Husson, I. (2018) · Gait & Posture · doi:10.1016/j.gaitpost.2018.08.017 · Cited by 23
Patient‐reported outcomes in Friedreich’s ataxia after withdrawal from idebenone
Cook, A., Boesch, S., Heck, S., Brunt, E. R. P., Klockgether, T., Schöls, L. J., Schulz, A., & Giunti, P. (2019) · Acta Neurologica Scandinavica · doi:10.1111/ane.13088 · Cited by 23
Friedreich's ataxia presenting as adult-onset spastic paraparesis
Gates, P., Paris, D. B. B. P., Forrest, S. M., Williamson, R., & Gardner, R. J. M. (1998) · Neurogenetics · doi:10.1007/s100480050045 · Cited by 23
Huntington's disease look-alikes
Schneider, S. A., & Bhatia, K. P. (2011) · Handbook of clinical neurology · doi:10.1016/b978-0-444-52014-2.00005-7 · Cited by 22
Digital endpoints for self‐administered home‐based functional assessment in pediatric Friedreich’s ataxia
Mueller, A., Paterson, E., McIntosh, A., Præstgaard, J., Bylo, M., Hoefling, H., Wells, M., Lynch, D. R., Rummey, C., Krishnan, M. L., et al. (2021) · Annals of Clinical and Translational Neurology · doi:10.1002/acn3.51438 · Cited by 22
Safety, pharmacokinetics, and pharmacodynamics of nomlabofusp ( CTI ‐1601) in Friedreich's ataxia
Clayton, R. G., Galas, T., Scherer, N., Farmer, J. M., Ruiz, N., Hamdani, M., Schecter, D., & Bettoun, D. J. (2024) · Annals of Clinical and Translational Neurology · doi:10.1002/acn3.51971 · Cited by 22
Neuro-ophthalmic Manifestations of Cerebellar Disease
Beh, S. C., Frohman, T. C., & Frohman, E. M. (2014) · Neurologic Clinics · doi:10.1016/j.ncl.2014.07.002 · Cited by 22
Low Bone Mineral Density in Friedreich Ataxia
Eigentler, A., Nachbauer, W., Donnemiller, E., Poewe, W. H., Gasser, R. W., & Boesch, S. (2014) · The Cerebellum · doi:10.1007/s12311-014-0568-1 · Cited by 22
Friedreich ataxia in Norway – an epidemiological, molecular and clinical study
Wedding, I. M., Kroken, M., Henriksen, S. P., Selmer, K. K., Fiskerstrand, T., Knappskog, P. M., Berge, T., & Tallaksen, C. M. E. (2015) · Orphanet Journal of Rare Diseases · doi:10.1186/s13023-015-0328-4 · Cited by 22
Malaysian Siblings with Friedreich Ataxia and Chorea: A Novel Deletion in the Frataxin Gene
Spacey, S. D., Szczygielski, B. I., Young, S. P., Hukin, J., Selby, K. A., & Snutch, T. P. (2004) · Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques · doi:10.1017/s0317167100003498 · Cited by 22
Aging and Oxidative Stress Response in the CNS
Calabrese, V., Butterfield, D. A., & Stella, A. M. G. (2008) · Springer eBooks · doi:10.1007/978-0-387-32671-9_6 · Cited by 23
Spinal schistosomiasis
Gellido, C. L., Onesti, S., Llena, J. F., & Suarez, M. (2000) · Neurology · doi:10.1212/wnl.54.2.527 · Cited by 22
A global perspective on research advances and future challenges in Friedreich ataxia
Indelicato, E., Delatycki, M. B., Farmer, J. M., França, M. C., Perlman, S., Rai, M., & Boesch, S. (2025) · Nature Reviews Neurology · doi:10.1038/s41582-025-01065-y · Cited by 23
Interruptions of the FXN GAA Repeat Tract Delay the Age at Onset of Friedreich’s Ataxia in a Location Dependent Manner
Nethisinghe, S., Kesavan, M., Ging, H., Labrum, R. W., Polke, J. M., Islam, S., García‐Moreno, H., Callaghan, M. F., Cavalcanti, F., Pook, M. A., et al. (2021) · International Journal of Molecular Sciences · doi:10.3390/ijms22147507 · Cited by 21
The Mitochondrial Connection in Auditory Neuropathy
Cacace, A. T., & PINHEIRO, J. M. B. (2011) · Audiology and Neurotology · doi:10.1159/000323276 · Cited by 21
Friedreich ataxia presenting as sudden cardiac death in childhood: Clinical, genetic and pathological correlation, with implications for genetic testing and counselling
Quercia, N. L., Somers, G. R., HALLIDAY, W. C., Kantor, P. F., Banwell, B., & Yoon, G. (2010) · Neuromuscular Disorders · doi:10.1016/j.nmd.2010.02.019 · Cited by 21
Myocardial deformation abnormalities in paediatric hypertrophic cardiomyopathy: are all aetiologies identical?
Gáname, J., Pignatelli, R. H., Eidem, B. W., Claus, P., D’hooge, J., McMahon, C. J., Buyse, G., Towbin, J. A., Ayres, N. A., & Mertens, L. (2008) · European Journal of Echocardiography · doi:10.1093/ejechocard/jen150 · Cited by 21
Time-resolved functional analysis of acute impairment of frataxin expression in an inducible cell model of Friedreich ataxia
Poburski, D., Boerner, J. B., Koenig, M., Ristow, M., & Thierbach, R. (2016) · Biology Open · doi:10.1242/bio.017004 · Cited by 21
Self-citation
Health related quality of life in Friedreich Ataxia in a large heterogeneous cohort
Xiong, E. H., Lynch, A. E., Corben, L. A., Delatycki, M. B., Subramony, S. H., Bushara, K. O., Gomez, C. M., Hoyle, J. C., Yoon, G., Ravina, B. M., et al. (2019) · Journal of the Neurological Sciences · doi:10.1016/j.jns.2019.116642 · Cited by 21
Therapeutic strategies in Friedreich’s ataxia
Schöls, L. J., Meyer, C., Schmid, G., Wilhelms, I., & Przuntek, H. (2004) · Journal of neural transmission. Supplementum · doi:10.1007/978-3-7091-0579-5_16 · Cited by 21
Striking intrafamilial phenotypic variability and spastic paraplegia in the presence of similar homozygous expansions of the FRDA1 gene
Badhwar, A., Jansen, A., Andermann, F., Pandolfo, M., & Andermann, E. (2004) · Movement Disorders · doi:10.1002/mds.20264 · Cited by 21
Primary and Secondary Drug Screening Assays for Friedreich Ataxia
Cotticelli, M. G., Rasmussen, L. A., Kushner, N. L., McKellip, S. N., Sosa, M. I., Manouvakhova, A., Feng, S., White, E. L., Maddry, J. A., Heemskerk, J., et al. (2011) · SLAS DISCOVERY · doi:10.1177/1087057111427949 · Cited by 21
Lymphoblast Oxidative Stress Genes as Potential Biomarkers of Disease Severity and Drug Effect in Friedreich's Ataxia
Hayashi, G., & Cortopassi, G. A. (2016) · PLoS ONE · doi:10.1371/journal.pone.0153574 · Cited by 21
Mitochondrial Dysfunction in Friedreich’s Ataxia
Lodi, R., Taylor, D. J., & Schapira, A. H. V. (2001) · Neurosignals · doi:10.1159/000046891 · Cited by 21
GENETIC ANTICIPATION IN CROHN'S DISEASE
Bayless, T. M., Picco, M. F., & LaBuda, M. C. (1998) · The American Journal of Gastroenterology · doi:10.1111/j.1572-0241.1998.02322.x · Cited by 21
Unverricht–Lundborg disease in a five-generation Arab family
Mazarib, A., Xiong, L., Neufeld, M. Y., Birnbaum, M. J., Korczyn, A. D., Pandolfo, M., & Berkovic, S. F. (2001) · Neurology · doi:10.1212/wnl.57.6.1050 · Cited by 21
Safety Monitoring of Omaveloxolone in Friedreich Ataxia: Results from One Year of Clinical Treatment
Gunther, K., Profeta, V., Keita, M., Park, C. C., Wells, M., Sharma, S., Schadt, K. A., & Lynch, D. R. (2025) · Neurology and Therapy · doi:10.1007/s40120-025-00749-3 · Cited by 20

Authors: Dürr, A., Cossee, M., Agid, Y., Campuzano, V., Mignard, C., Penet, C., Mandel, J.-L., Brice, A., & Koenig, M.
Affiliations: Inserm (FR)
Institut de génétique et de biologie moléculaire et cellulaire (FR)
ORCID: Dürr, Alexandra
Campuzano, Victoria
Mandel, Jean-Louis
Brice, Alexis
Koenig, Michel
Venue: New England Journal of Medicine
Publisher: Massachusetts Medical Society
Published: 1996-10-17
Volume: 335
Issue: 16
Pages: 1169-1175
ISSN: 0028-4793 (ISSN-L)
1533-4406
DOI: 10.1056/nejm199610173351601
OpenAlex: W2336904126
Cited by: 1,071
References: 20
Citations by year: 2026: 25 · 2025: 32 · 2024: 31 · 2023: 38 · 2022: 39 · 2021: 47 · 2020: 47 · 2019: 33 · 2018: 30 · 2017: 32 · 2016: 35 · 2015: 34 · 2014: 51 · 2013: 57 · 2012: 52
FWCI: 11.88
Type: journal article
Language: en
Open access: bronze
doi.org
Locations: New England Journal of Medicine (publishedVersion)
PubMed (publishedVersion)
HAL (submittedVersion)
Topics: Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Genetic Neurodegenerative Diseases
Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Hereditary Neurological Disorders
Life Sciences › Biochemistry, Genetics and Molecular Biology › Biochemistry › Glycogen Storage Diseases and Myoclonus
Keywords: Friedreich's ataxia, GAA repeat expansion, frataxin gene, trinucleotide repeat instability, autosomal recessive ataxia, age of onset, loss of ambulation, cardiomyopathy, deep tendon reflexes, clinical spectrum, genetic counseling, prognosis
MeSH terms: Adolescent, Adult, Base Sequence, Child, Child, Preschool, Chromosomes, Human, Pair 9, Female, Friedreich Ataxia, Homozygote, Humans, Male, Middle Aged, Molecular Sequence Data, Phenotype, Regression Analysis, Age of Onset, Disease Progression, Trinucleotide Repeats

About these checks

Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.

Statistics and arithmetic are recomputed, not judged.

Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.

What counts as a claim ›How we measure confidence ›How we check this ›

Are you an author, or do you see a problem with this page? Request a review

Clinical and Genetic Abnormalities in Patients with Friedreich's Ataxia

Abstract

Overview

Integrity signals

Verification

Claims the paper makes

Claims other papers make about this one

Self-check

Citations

Cites

Cited by

Related

Metadata

Record

About these checks