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
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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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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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