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

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Clinical and Genetic Abnormalities in Patients with Friedreich's Ataxia

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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

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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.

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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

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Martin, J. J., Martin, L., Löfgren, A., D’Hooghe, M., Storm, K., Balemans, W., Palau, F., & Broeckhoven, C. V. (1999) · European Neurology · doi:10.1159/000069420 · Cited by 3
Slowly Progressive Ataxia, Neuropathy, and Oculomotor Dysfunction
Jordan, J. T., Samuel, G., Vernino, S. A., & Muppidi, S. (2012) · Archives of Neurology · doi:10.1001/archneurol.2012.2356 · Cited by 3
Problems and possibilities in the differential diagnosis of Syndrome Spinocerebellar Ataxia.
Zumrová, A. (2005) · PubMed · Cited by 3
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Lalonde, R., & Strazielle, C. (2002) · Cited by 3
Pregnancy in a woman with Friedreich`s ataxia
CHUILEANNAIN, S. M. P. M. F. N. (1997) · Journal of Obstetrics and Gynaecology · doi:10.1080/01443619768713 · Cited by 3
Variable sensory nerve conduction parameters in late onset Friedreich ataxia
Alix, J. J. P., Alam, T., Garrard, K., Martindale, J. E., Shanmugarajah, P. D., Rao, D. G., & Hadjivassiliou, M. (2016) · Muscle & Nerve · doi:10.1002/mus.25363 · Cited by 3
Abnormal Muscle Pathology and Physiology
Bogdanovich, S., Gardner, B. B., & McNally, E. M. (2016) · Elsevier eBooks · doi:10.1016/b978-0-12-800040-3.00004-2 · Cited by 3
Autosomal recessive cerebellar ataxias with oculomotor apraxia
Ber, I. L., Dürr, A., & Brice, A. (2011) · Handbook of clinical neurology · doi:10.1016/b978-0-444-51892-7.00020-6 · Cited by 3
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Larner, J. A. (2013) · Cited by 3
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Ran, S., Abeti, R., & Giunti, P. (2017) · Frontiers in diabetes · doi:10.1159/000454745 · Cited by 3
A Novel Ataxic Mutant Mouse Line Having Sensory Neuropathy Shows Heavy Iron Deposition in Kidney
Hashimoto, H., Kawabe, T., Fukuda, T., & Kusakabe, M. (2017) · Neurodegenerative Diseases · doi:10.1159/000457126 · Cited by 3
Cardiomyopathy as the first manifestation of Friedreich s ataxia
Maffei, R. T. L. N., Fortuna, G. D. L. S., Rosso, L. C., Pires, P. D., & Rondelli, I. (2020) · Autopsy and Case Reports · doi:10.4322/acr.2020.204 · Cited by 3
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Cooper, A. J. L., & Blass, J. P. (2010) · Advances in neurobiology · doi:10.1007/978-1-4419-7104-3_11 · Cited by 3
The cardiomyopathy of Friedreich's ataxia common in a family: A case report
Amini, O., lakziyan, R., Abavisani, M., & Sarchahi, Z. (2021) · Annals of Medicine and Surgery · doi:10.1016/j.amsu.2021.102408 · Cited by 3
Toward Personalized Cell Therapies by Using Stem Cells
Isobe, K.-I., Cheung, H. S., & Wu, J. (2012) · BioMed Research International · doi:10.1155/2012/172564 · Cited by 3
Trinucleotide repeats and hereditary ataxias
Klockgether, T., & DICHGANS, J. (1997) · Nature Medicine · doi:10.1038/nm0297-149 · Cited by 3
Linking Dynamic DNA Secondary Structures to Genome InstabilityPreprint
Matos-Rodrigues, G. E., van Wietmarschen, N., Wu, W., Tripathi, V., Koussa, N. C., Pavani, R., Nathan, W. J., Belinky, F., Mohammed, A., Напиерала, М., et al. (2022) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2022.01.19.476973 · Cited by 3
Hereditary Optic Neuropathies
Chan, J. W. (2008) · Springer eBooks · doi:10.1007/978-0-387-68979-1_7 · Cited by 3
Treatment for speech disorder in Friedreich ataxia and other hereditary ataxia syndromes
Vogel, A. P., Folker, J. E., & Murdoch, B. E. (2011) · Cochrane Database of Systematic Reviews · doi:10.1002/14651858.cd008953 · Cited by 3
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Manto, M., & Jissendi, P. (2009) · Elsevier eBooks · doi:10.1016/b978-008045046-9.01521-7 · Cited by 3
Anatomical and functional analysis of the corticospinal tract in an FRDA mouse modelPreprint
Nishiyama, M., Kalambogias, J., Imai, F., Yang, E., Lang, S., de Nooij, J. C., & Yoshida, Y. (2024) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2024.06.28.601178 · Cited by 3
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Lynch, D. R., Shen, M., & Wilson, R. B. (2025) · Neurodegenerative Disease Management · doi:10.1080/17582024.2025.2452147 · Cited by 2
Long-Read Sequencing Identifies Mosaic Sequence Variations in Friedreich’s Ataxia-GAA Repeats
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Moretti, M., Fabris, E., Finocchiaro, G., Pinamonti, B., Abate, E., Vitrella, G., Merlo, M., Brun, F., Pagnan, L., & Sinagra, G. (2014) · Springer eBooks · doi:10.1007/978-3-319-06019-4_20 · Cited by 2
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Leighton, J., Howard, J., & El‐Hawary, R. (2013) · JBJS Case Connector · doi:10.2106/jbjs.cc.l.00056 · Cited by 2
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Scarabino, D., Veneziano, L., Nethisinghe, S., Mantuano, E., Fiore, A., Granata, G., Solanky, N., Zanni, G., Cavalcanti, F., Corbo, R. M., et al. (2024) · Movement Disorders · doi:10.1002/mds.29976 · Cited by 2
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Adorisio, R., Cantarutti, N., Siri, B., Bellettini, E., Ingrasciotta, G., Mencarelli, E., Graziani, F., Lillo, R., Marzio, S. D., Mambro, C. D., et al. (2025) · Frontiers in Cardiovascular Medicine · doi:10.3389/fcvm.2025.1621096 · Cited by 3
Neuropathies périphériques associées aux ataxies cérébelleuses héréditaires
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Uncharted waters: rare and unclassified cardiomyopathies characterized on cardiac magnetic resonance imaging
O’Neill, A. C., McDermott, S., Ridge, C. A., McDonald, K., Keane, D., & Dodd, J. D. (2010) · Insights into Imaging · doi:10.1007/s13244-010-0045-4 · Cited by 2
Ataksja Friedreicha – algorytm diagnostyki klinicznej i molekularnej
Mazurczak, T., & Hoffman‐Zacharska, D. (2009) · Pediatria Polska · doi:10.1016/s0031-3939(09)70159-3 · Cited by 2
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Chevallier, J. A., & Koenig, M. K. (2012) · Journal of Child Neurology · doi:10.1177/0883073811431012 · Cited by 2
Self-citation
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Potdar, P. D., & Raghu, A. (2013) · Asian Journal of Neuroscience · doi:10.1155/2013/909767 · Cited by 2
Friedreich's ataxia (FA) associated with diabetes mellitus type 1 and hypertrophic cardiomyopathy: analysis of a FA family.
Gucev, Z. S., Tasic, V. B., Jančevska, A., Jordanova, N. P., Kočeva, S., Kuturec, M., & SABOLIC-AVRAMOVSKA, V. (2009) · PubMed · Cited by 2
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Evangelopoulos, D. S., Pirvu, T., Exadaktylos, A. K., & Kohl, S. (2012) · BMJ Case Reports · doi:10.1136/bcr-2012-006550 · Cited by 2
Epigenetics and Epigenomics in Human Health and Disease
Festenstein, R. (2016) · Elsevier eBooks · doi:10.1016/b978-0-12-420196-5.00005-8 · Cited by 2
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Groh, W. J. (2013) · Elsevier eBooks · doi:10.1016/b978-1-4557-2856-5.00100-x · Cited by 2
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Rosenberg, R. N., & Khemani, P. (2014) · Elsevier eBooks · doi:10.1016/b978-0-12-410529-4.00071-1 · Cited by 2
Epigenetic Mechanisms as Key Regulators in Disease
Boukaba, A., Sanchis‐Gomar, F., & García‐Giménez, J. L. (2015) · Elsevier eBooks · doi:10.1016/b978-0-12-801899-6.00003-6 · Cited by 3
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Palau, F., & Arpa, J. (2016) · Springer eBooks · doi:10.1007/978-3-319-24551-5_70 · Cited by 2
Neurological Disorders in the Lower Extremity
Fernando, M. E., & Lazzarini, P. A. (2020) · Elsevier eBooks · doi:10.1016/b978-0-7020-6223-0.00006-6 · Cited by 2
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Russo, M., Nuzzo, A., Foschi, M., Boarin, S., Lorenzetti, S., Tomasi, C., Querzani, P., & Rubboli, A. (2021) · SAGE Open Medical Case Reports · doi:10.1177/2050313x211056419 · Cited by 2
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Subramony, S. H., & Xia, G. (2012) · Elsevier eBooks · doi:10.1016/b978-1-4377-0434-1.00097-9 · Cited by 2
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Jama, M., Margraf, R. L., Yu, P., Reading, N. S., & Bayrak‐Toydemir, P. (2022) · Journal of Molecular Diagnostics · doi:10.1016/j.jmoldx.2022.04.008 · Cited by 2
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Schelhaas, H. J., Hulst, M. V. D., Ippel, E. P. F., Prevo, R. L., & Hageman, G. (1999) · Clinical Neurology and Neurosurgery · doi:10.1016/s0303-8467(99)00051-7 · Cited by 2
The impact of molecular biology on clinical neurology.
Mak, J. W. Y., & Ho, S. L. (2001) · PubMed · Cited by 2
Animal Models of Friedreich Ataxia
Pandolfo, M. (2014) · Elsevier eBooks · doi:10.1016/b978-0-12-405195-9.00065-2 · Cited by 2
Análisis de la función y la regulación de la mitocondria de la levadura Saccharomyces cerevisiae en respuesta a estrés osmótico
Pastor, M. M. (2011) · doi:10.4995/thesis/10251/10600 · Cited by 2
Cardiomyopathy in patients with Friedreichs ataxia - appearance and diagnostic value
Schmidinger, S., Eiber, J., Schöls, L. J., & Weber, K. (2000) · Journal für Kardiologie (Krause & Pachernegg GmbH) · Cited by 2
Advances in the understanding of hereditary ataxia – implications for future patients
Zeitlberger, A. M., Ging, H., Nethisinghe, S., & Giunti, P. (2018) · Expert Opinion on Orphan Drugs · doi:10.1080/21678707.2018.1444477 · Cited by 1
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Ron, A. G., & Mesa, M. R. (2019) · Neurología (English Edition) · doi:10.1016/j.nrleng.2017.11.004 · Cited by 1
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Chellapandi, D. M., Mosbach, V., Paschaki, M., & Puccio, H. M. (2023) · Contemporary clinical neuroscience · doi:10.1007/978-3-031-24345-5_23 · Cited by 1
Design and validation of cell-based potency assays for frataxin supplementation treatments
Mukherjee, S., Pereboeva, L., Fil, D., Saikia, A., Lee, J., Li, J., Cotticelli, M. G., Soragni, E., Wilson, R. B., Напиерала, М., et al. (2024) · Molecular Therapy — Methods & Clinical Development · doi:10.1016/j.omtm.2024.101347 · Cited by 1
MSH2 is not required for either maintenance of DNA methylation or repeat contraction at the FMR1 locus in fragile X syndrome or the FXN locus in Friedreich’s ataxia
Grant-Bier, J., Ruppert, K., Hayward, B. E., Usdin, K., & Kumari, D. (2025) · Epigenetics & Chromatin · doi:10.1186/s13072-025-00588-4 · Cited by 1
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Phang, M. W. L., Hisam, N. S. M., Supandi, F., Cheng, P. G., Lim, S., Lim, L. W., & Wong, K.-H. (2025) · International journal of medicinal mushrooms · doi:10.1615/intjmedmushrooms.2025059734 · Cited by 1
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Visani, E., Canafoglia, L., Nanetti, L., Sebastiano, D. R., Duran, D., Anversa, P., Bonfoco, D., Dotta, S., Tabarelli, D., Castaldo, A., et al. (2025) · Clinical Neurophysiology · doi:10.1016/j.clinph.2025.2110738 · Cited by 1
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Hemachudha, P., Anukoolwittaya, P., Pongpitakmetha, T., Joyjinda, Y., Ruchisrisarod, C., Saraya, A. W., Rattanawong, W., Thanapornsungsuth, P., & Hemachudha, T. (2025) · Asian Biomedicine · doi:10.2478/abm-2025-0022 · Cited by 2
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Sureshkumar, P., Kumar, S. S., Cheriyan, J., & Masood, A. B. (2025) · JCEM Case Reports · doi:10.1210/jcemcr/luaf215 · Cited by 1
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Nguyen, H. T., Напиерала, М., & Napierala, J. S. (2026) · Stem Cell Research & Therapy · doi:10.1186/s13287-025-04861-x · Cited by 1
Neurophysiological assessment of disease severity in Friedreich’s Ataxia: a study of brainstem auditory and visual evoked potentials
Maccora, S., Quartetti, U., Lima, S. M., Rini, N., Cucchiara, M., Agnello, L., Gambino, C. M., Brighina, F., Ciaccio, M., & Stefano, V. D. (2026) · Clinical Neurophysiology · doi:10.1016/j.clinph.2026.2111933 · Cited by 1
A Patient-Reported Outcome Measure of Communication Difficulties in Friedreich Ataxia: COMATAX.
Buchholz, M., Monier, V., Ewenczyk, C., Heinzmann, A., Pierron, L., Sayah, S., Hilab, R., Atencio, M., Petit, É., Bertrand, F., et al. (2026) · The Cerebellum · doi:10.1007/s12311-026-02020-3 · Cited by 1
Self-citation
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Etemad Ahari, S., Houshmand, M., Kasraie, S., Moin, M., Bahar, B., Shafa Shariat Panahi, M., & Ahangari, G. (2008) · Iranian journal of child neurology. · doi:10.22037/ijcn.v2i1.473 · Cited by 1
Ataxies et paraplégies spastiques héréditaires
Funalot, B., & Lamy, C. (2004) · Encyclopédie médico-chirurgicale. Neurologie · doi:10.1016/j.emcn.2003.12.002 · Cited by 1
Les ataxies cérébelleuses autosomiques récessives
Anheim, M. (2011) · Pratique Neurologique - FMC · doi:10.1016/j.praneu.2011.07.002 · Cited by 1
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Melo, M., Fagulha, A., Barros, L. M., Guimarães, J., Carrilho, F., & Carvalheiro, M. C. (2005) · DOAJ (DOAJ: Directory of Open Access Journals) · doi:10.20344/amp.1061 · Cited by 1
Iron transport: From enterocyte to mitochondria
Özbek, N. Y. (2010) · Turkish Journal of Hematology · doi:10.5152/tjh.2010.20 · Cited by 1
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Kawai, H., Morimoto, S.-I., Takakuwa, Y., Ueda, A., Inada, K.-I., Sarai, M., Arimura, T., Mutoh, T., Kimura, A., & Ozaki, Y. (2016) · International Heart Journal · doi:10.1536/ihj.15-444 · Cited by 1
Clinical Neurophysiology of Pediatric Polyneuropathies
Burns, T. M., Bradshaw, D. Y., Kuntz, N. L., & Jones, H. R. (2006) · Elsevier eBooks · doi:10.1016/b978-0-7506-7251-1.50037-x · Cited by 1
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Xue, J., & Ye, C. (2024) · BioEssays · doi:10.1002/bies.202300218 · Cited by 1
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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

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Clinical and Genetic Abnormalities in Patients with Friedreich's Ataxia

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