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Clinical and Genetic Abnormalities in Patients with Friedreich's Ataxia
Open accessAbstract
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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Kawai, C., Kato, S., Takashima, M., Fujiwara, H., & HAEBARA, H. (2000) · Japanese Circulation Journal-english Edition · doi:10.1253/jcj.64.229 · Cited by 8
Koç, F., Akpınar, O., Yerdelen, D., Demir, M., Sarıca, Y., & Kanadaşı, M. (2005) · International Heart Journal · doi:10.1536/ihj.46.443 · Cited by 8
Carrier, L., Jongbloed, R. J. E., Smeets, H. J. M., & Doevendans, P. A. (2001) · Developments in cardiovascular medicine · doi:10.1007/978-94-010-1019-1_12 · Cited by 8
Lynch, D. R., Rojsajjakul, T., Subramony, S. H., Perlman, S., Keita, M., Mesaros, C., & Blair, I. A. (2023) · Journal of Neurology · doi:10.1007/s00415-023-12118-x · Cited by 7
Friedreich's Ataxia Frequency in a Large Cohort of Genetically Undetermined Ataxia Patients
Brown, A. F., Parkinson, M. H., García‐Moreno, H., Mudanohwo, E. E., Labrum, R. W., Sweeney, M. G., & Giunti, P. (2021) · Frontiers in Neurology · doi:10.3389/fneur.2021.736253 · Cited by 7
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Chapter 2 Acquired Cerebellar Ataxias and Differential Diagnosis
Klockgether, T. (2007) · Blue books of neurology · doi:10.1016/s1877-184x(09)70076-0 · Cited by 7
Cantrell, A. C., Zeng, H., & Chen, J. (2023) · Journal of Cardiovascular Pharmacology · doi:10.1097/fjc.0000000000001496 · Cited by 8
Gavriel, C., Thomik, A. A. C., Lourenço, P. R., Nageshwaran, S., Athanasopoulos, S., Sylaidi, A., Festenstein, R., & Faisal, A. A. (2015) · International IEEE/EMBS Conference on Neural Engineering · doi:10.1109/ner.2015.7146631 · Cited by 7
Spectral measures of the effects of Friedreich's ataxia on speech
Rosen, K. M., Folker, J. E., Murdoch, B. E., Vogel, A. P., Cahill, L., Delatycki, M. B., & Corben, L. A. (2010) · International Journal of Speech-Language Pathology · doi:10.3109/17549507.2011.529940 · Cited by 7
Ataxias cerebelares hereditárias: do martelo ao gen
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Friedreich's ataxia: clinical and molecular study of 25 Brazilian cases
Albano, L. M. J., Zatz, M., Chong, A. K., Bertola, D. R., Sugayama, S. M. M., Marques‐Dias, M. J., Kok, F., Ferraretto, I., Rosemberg, S., Cocozza, S., et al. (2001) · Revista do Hospital das Clínicas · doi:10.1590/s0041-87812001000500003 · Cited by 7
Treatment of Friedreich's ataxia
Pandolfo, M. (2013) · Expert Opinion on Orphan Drugs · doi:10.1517/21678707.2013.771578 · Cited by 7
Anti-Oxidant Drugs: Novelties and Clinical Implications in Cerebellar Ataxias
Barca, E., Emmanuele, V., DiMauro, S., Toscano, A., & Quinzii, C. M. (2018) · Current Neuropharmacology · doi:10.2174/1570159x15666171109125643 · Cited by 7
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Oral mobility reflects rate of progression in advanced Friedreich’s ataxia
Borel, S., Gatignol, P., Smail, M., Monin, M., Ewenczyk, C., Bouccara, D., & Dürr, A. (2019) · Annals of Clinical and Translational Neurology · doi:10.1002/acn3.50879 · Cited by 7
Self-citationMicrovascular pathology in Friedreich cardiomyopathy.
Koeppen, A. H., Qian, J., Travis, A., Sossei, A. B., Feustel, P. J., & Mazurkiewicz, J. E. (2020) · PubMed · doi:10.14670/hh-18-132 · Cited by 7
Metadata
- 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)
- 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
- 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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