Analysis of the visual system in Friedreich ataxia

Journal of Neurology

Volumn 260, Issue 9, 2013, Pages 2362-2369

  Seyer, Lauren A ^a,b   Galetta, Kristin ^a   Wilson, James ^a   Sakai, Reiko ^a   Perlman, Susan ^c   Mathews, Katherine ^d   Wilmot, George R ^e   Gomez, Christopher M ^f   Ravina, Bernard ^g   Zesiewicz, Theresa ^h   Bushara, Khalaf O ⁱ   Subramony, S H ^j   Ashizawa, Tetsuo ^j   Delatycki, Martin B ^k   Brocht, Alicia ^g   Balcer, Laura J ^a   Lynch, David R ^a,b  

^a UNIVERSITY OF PENNSYLVANIA   (United States)

^b CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

^c UNIVERSITY OF CALIFORNIA   (United States)

^d UNIVERSITY OF IOWA   (United States)

^e EMORY UNIVERSITY SCHOOL OF MEDICINE   (United States)

^f UNIVERSITY OF CHICAGO   (United States)

^g UNIVERSITY OF ROCHESTER MEDICAL CENTER   (United States)

^h UNIVERSITY OF SOUTH FLORIDA   (United States)

ⁱ UNIVERSITY OF MINNESOTA   (United States)

^j UNIVERSITY OF FLORIDA   (United States)

^k MURDOCH CHILDREN'S RESEARCH INSTITUTE   (Australia)

more..

Author keywords

Friedreich ataxia; Neurology; Optical coherence tomography

Indexed keywords

FRATAXIN;

ADOLESCENT; ADULT; AGE; AGED; ARTICLE; BINOCULAR VISION; CHEEK; CHILD; CONTRAST; CONTROLLED STUDY; DISEASE DURATION; DISEASE SEVERITY; FEMALE; FRIEDREICH ATAXIA; FRIEDREICH ATAXIA RATING SCALE; HUMAN; MACULAR THICKNESS; MAJOR CLINICAL STUDY; MALE; MONOCULAR VISION; MULTIPLE SCLEROSIS; NERVE FIBER; OPTICAL COHERENCE TOMOGRAPHY; POINT MUTATION; PRIORITY JOURNAL; PROTEIN BLOOD LEVEL; RATING SCALE; RETINA; SCHOOL CHILD; VISUAL ACUITY; VISUAL IMPAIRMENT; VISUAL SYSTEM;

ADOLESCENT; ADULT; AGED; CHILD; CONTRAST SENSITIVITY; FEMALE; FRIEDREICH ATAXIA; HUMANS; MALE; MIDDLE AGED; TOMOGRAPHY, OPTICAL COHERENCE; VISION DISORDERS; VISUAL ACUITY; YOUNG ADULT;

EID: 84884354987     PISSN: 03405354     EISSN: 14321459     Source Type: Journal    
DOI: 10.1007/s00415-013-6978-z     Document Type: Article

References (30)

1. Lynch DR, Farmer JM, Balcer LJ, Wilson RB (2002) Friedreich ataxia: effects of genetic understanding on clinical evaluation and therapy. Arch Neurol 59:743-747
2. Schulz JB, Denmer T, Schols L et al (2000) Oxidative stress in patients with Friedreich ataxia. Neurology 55:1719-1721
3. Bidichandani SI, Ashizawa T, Patel PI (1997) Atypical Friedreich ataxia caused by compound heterozygosity for a novel missense mutation and the GAA triple-repeat expansion. Am J Hum Genet 60:1251-1256
4. Cossee M, Durr A, Schmitt M et al (1999) Friedreich's ataxia: point mutations and clinical presentation of compound heterozygotes. Ann Neurol 45:200-206
5. Monros E, Molto MD, Martinez F et al (1997) Phenotype correlation and intergenerational dynamics of the Friedreich ataxia GAA trinucleotide repeat. Am J Hum Genet 61:101-110
6. Babady NE, Carelle N, Wells RD et al (2007) Advancements in the pathophysiology of Friedreich's ataxia and new prospects for treatments. Molec Genet Metabolism 92:23-35
7. Cooper JM, Schapira AH (2003) Friedreich's ataxia: disease mechanisms, antioxidant and coenzyme Q10 therapy. BioFactors 18:163-171
8. Harding AE (1981) Friedreich's ataxia: a clinical and genetic study of 90 families with an analysis of early diagnostic criteria and intrafamilial clustering of clinical features. Brain 104:589-620
9. Pandolfo M (1999) Molecular pathogenesis of Friedreich ataxia. Arch Neurol 56:1201-1208
10. Fahey MC, Cremer PD, Aw ST et al (2008) Vestibular, saccadic and fixation abnormalities in genetically confirmed Friedreich ataxia. Brain 131:1035-1045
11. Fortuna F, Barboni P, Liguori R et al (2009) Visual system involvement in patients with Friedreich's ataxia. Brain 132(part 1):116-123
12. Newman NJ, Biousse V (2004) Hereditary optic neuropathies. Eye 18:1144-1160
13. Carelli V, Ross-Cisneros FN, Sadun AA (2002) Optic nerve degeneration and mitochondrial dysfunction: genetic and acquired optic neuropathies. Neurochem Int 40:573-584
14. Teesalu P, Tuulonen A, Airaksinen PJ (2000) Optical coherence tomography and localized defects of the retinal nerve fiber layer. Acta Ophthalmol Scand 78:49-52
15. Syc SB, Warner CV, Hiremath GS et al (2010) Reproducibility of high-resolution optical coherence tomography in multiple sclerosis. Mult Scler 0:1-11
16. Fisher JB, Jacobs DA, Markowitz CE et al (2006) Relation of visual function to retinal nerve fiber layer thickness in multiple sclerosis. Ophthalmology 113(2):324-332
17. Cettomai D, Pulicken M, Gordon-Lipkin E et al (2008) Reproducibility of optical coherence tomography in multiple sclerosis. Arch Neurol 65:1218-1222
18. Kanamori A, Nakamura M, Escano MF et al (2003) Evaluation of the glaucomatous damage on retinal nerve fiber layer thickness measured by optical coherence tomography. Am J Ophthalmol 135:513-520
19. Talman LS, Bisker ER, Sackel DJ et al (2010) Longitudinal study of vision and retinal nerve fiber layer thickness in multiple sclerosis. Ann Neurol. 67:749-760
20. Trip SA, Schlottmann PG, Jones SJ et al (2005) Retinal nerve fiber layer axonal loss and visual dysfunction in optic neuritis. Ann Neurol 58(3):383-391
21. Costello F, Coupland S, Hodge W et al (2006) Quantifying axonal loss after optic neuritis with optical coherence tomography. Ann Neurol 59(6):963-969
22. Lynch DR, Farmer JM, Tsou AY et al (2006) Measuring Friedreich ataxia: complementary features of examination performance measures. Neurology 66:1711-1716
23. Subramony SH, May W, Lynch D et al (2005) Cooperative ataxia group. measuring Friedreich ataxia: interrater reliability of a neurologic rating scale. Neurology 64:1261-1262
24. Friedman LS, Farmer JM, Perlman S et al (2010) Measuring the rate of progression in Friedreich ataxia: implications for clinical trial design. Mov Disord 25:426-432
25. Deutsch EC, Santani AB, Perlman SL et al (2010) A rapid, non-invasive immunoassay for frataxin: utility in assessment of Friedreich ataxia. Mol. Gen. Metab. 101:238-245
26. Matthews DR, Hosker JP, Rudenski AS et al (1985) Homeostasis model assessment: insulin resistance and beta-cell function from fasting plasma glucose and insulin concentrations in man. Diabetologia 28(7):412-419
27. Lynch DR, Farmer JM, Rochestie D, Balcer LJ (2002) Contrast letter acuity as a measure of visual dysfunction in patients with Friedreich ataxia. J Neuroophthalmol 22:270-274
28. Ratchford JN, Quigg ME, Conger A et al (2009) Optical coherence tomography helps differentiate neuromyelitis optica and MS optic neuropathies. Neurology 73:302-308
29. McCormack ML, Guttmann RP, Schumann M et al (2000) Frataxin point mutations in two patients with Friedreich's ataxia and unusual clinical features. J Neurol Neurosurg Psychiatry 68:661-664
30. Pinto F, Amantini A, deScisciolo G et al (1988) Visual involvement in Friedreich's ataxia: pERG and VEP study. Eur Neurol 28(5):246-251