Progressive GAA expansions in dorsal root ganglia of Friedreich's ataxia patients

Annals of Neurology

Volumn 61, Issue 1, 2007, Pages 55-60

  De Biase, Irene ^a   Rasmussen, Astrid ^a,b   Endres, Dan ^c   Al Mahdawi, Sahar ^d   Monticelli, Antonella ^e   Cocozza, Sergio ^e   Pook, Mark ^d   Bidichandani, Sanjay I ^a,f  

^a UNIVERSITY OF OKLAHOMA COLLEGE OF MEDICINE   (United States)

^b NATIONAL INSTITUTE OF NEUROLOGY AND NEUROSURGERY   (Mexico)

^c UNIVERSITY OF CENTRAL OKLAHOMA   (United States)

^d BRUNEL UNIVERSITY   (United Kingdom)

^e UNIVERSITY OF NAPLES FEDERICO II   (Italy)

^f BRC458 ^*  (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ARTICLE; AUTOPSY; FRIEDREICH ATAXIA; FXN GENE; GENE; HUMAN; HUMAN TISSUE; NEUROPATHOLOGY; PATHOGENESIS; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SPINAL GANGLION; TRINUCLEOTIDE REPEAT;

ADOLESCENT; ADULT; AGE FACTORS; FEMALE; FRIEDREICH ATAXIA; GANGLIA, SPINAL; HUMANS; IRON-BINDING PROTEINS; MALE; MIDDLE AGED; POLYMORPHISM, GENETIC; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; TRINUCLEOTIDE REPEAT EXPANSION;

EID: 33846815260     PISSN: 03645134     EISSN: None     Source Type: Journal    
DOI: 10.1002/ana.21052     Document Type: Article

References (23)

1. Harding AE. Friedreich's ataxia: a clinical and genetic study of 90 families with an analysis of early diagnosis criteria and intrafamilial clustering of clinical features. Brain 1981;104:589-620.
2. Pandolfo M, Koenig M. Clinical and pathological aspects of Friedreich ataxia. In: Wells R, Warren S, Sarmiento M, eds. Genetic instabilities and hereditary neurological diseases. San Diego: Academic Press, 1998:373-398.
3. Campuzano V, Montermini L, Moltó MD, et al. Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion. Science 1996;271:1423-1427.
4. Bidichandani SI, Ashizawa T, Patel PI. The GAA triplet-repeat expansion in Friedreich ataxia interferes with transcription and may be associated with an unusual DNA structure. Am J Hum Genet 1998;62:111-121.
5. Campuzano V, Montermini L, Lutz Y, et al. Frataxin is reduced in Friedreich ataxia patients and is associated with mitochondrial membranes. Hum Mol Genet 1997;6:1771-1780.
6. Dürr A, Cessée M, Agid Y, et al. Clinical and genetic abnormalities in patients with Friedreich's ataxia. N Engl J Med 1996;335:1169-1175.
7. Filla A, De Michele G, Cavalcanti F, et al. The relationship between trinucleotide (GAA) repeat length and clinical features in Friedreich ataxia. Am J Hum Genet 1996;59:554-560.
8. Montermini L, Richter A, Morgan K, et al. Phenotypic variability in Friedreich ataxia: role of the associated GAA triplet repeat expansion. Ann Neurol 1997;41:675-682.
9. Simon D, Seznec H, Gansmuller A, et al. Friedreich ataxia mouse models with progressive cerebellar and sensory ataxia reveal autophagic neurodegeneration in dorsal root ganglia. J Neurosci 2004;24:1987-1995.
10. Sharma R, Bhatti S, Gómez M, et al. The GAA triplet-repeat sequence in Friedreich ataxia shows a high level of somatic instability in vivo, with a significant predilection for large contractions. Hum Mol Genet 2002;11:2175-2187.
11. Sharma R, De Biase I, Gómez M, et al. Friedreich ataxia in carriers of unstable borderline GAA triplet-repeat alleles. Ann Neurol 2004;56:898-901.
12. Wheeler VC, Auerbach W, White JK, et al. Length-dependent gametic CAG repeat instability in the Huntington's disease knock-in mouse. Hum Mol Genet 1999;8:115-122.
13. Kennedy L, Shelbourne PF. Dramatic mutation instability in HD mouse striatum: does polyglutamine load contribute to cell-specific vulnerability in Huntington's disease? Hum Mol Genet 2000;9:2539-2544.
14. Kennedy L, Evans E, Chen CM, et al. Dramatic tissue-specific mutation length increases are an early molecular event in Huntington disease pathogenesis. Hum Mol Genet 2003;12:3359-3367.
15. Monckton DG, Wong LJ, Ashizawa T, Caskey CT. Somatic mosaicism, germline expansions, germline reversions and intergenerational reductions in myotonic dystrophy males: small pool PCR analyses. Hum Mol Genet 1995;4:1-8.
16. Wong LJ, Ashizawa T, Monckton DG, et al. Somatic heterogeneity of the CTG repeat in myotonic dystrophy is age and size dependent. Am J Hum Genet 1995;56:114-122.
17. Fortune MT, Vassilopoulos C, Coolbaugh MI, et al. Dramatic, expansion-biased, age-dependent, tissue-specific somatic mosaicism in a transgenic mouse model of triplet repeat instability. Hum Mol Genet 2000;9:439-445.
18. Watase K, Venken KJ, Sun Y, et al. Regional differences of somatic CAG repeat instability do not account for selective neuronal vulnerability in a knock-in mouse model of SCA1. Hum Mol Genet 2003;12:2789-2795.
19. Al-Mahdawi S, Pinto RM, Varshney D, et al. GAA repeat expansion mutation mouse models of Friedreich ataxia exhibit oxidative stress leading to progressive neuronal and cardiac pathology. Genomics 2006;88:580-590.
20. Custer SK, Garden GA, Gill N, et al. Bergmann glia expression of polyglutamine-expanded ataxin-7 produces neurodegeneration by impairing glutamate transport. Nat Neurosci 2006;9:1302-1311.
21. Clark RM, De Biase I, Malykhina A, et al. The GAA triplet-repeat is unstable in the context of the human FXN locus and displays age-dependent expansions in cerebellum and DRG in a transgenic mouse model. Hum Genet (in press).
22. Pearson CE, Nichol Edamura K, Cleary JD. Repeat instability: mechanisms of dynamic mutations. Nat Rev Genet 2005;6:729-742.
23. Rotig A, de Lonlay P, Chretien D, et al. Aconitase and mitochondrial iron-sulphur protein deficiency in Friedreich ataxia. Nat Genet 1997;17:215-217.