Reversible optic neuropathy with OPA1 exon 5b mutation

K. Cornille; D. Milea; P. Amati-Bonneau; V. Procaccio; L. Zazoun; V. Guillet; G. El Achouri; C. Delettre; N. Gueguen; D. Loiseau; A. Muller; M. Ferre; A. Chevrollier; D.C. Wallace; D. Bonneau; C. Hamel; P. Reynier; G. Lenaers

Reversible optic neuropathy with OPA1 exon 5b mutation

K. Cornille, D. Milea, P. Amati-Bonneau, V. Procaccio, L. Zazoun, V. Guillet, G. El Achouri, C. Delettre, N. Gueguen, D. Loiseau, A. Muller, M. Ferre, A. Chevrollier, D.C. Wallace, D. Bonneau, C. Hamel, P. Reynier, G. Lenaers

28 Citations (Scopus)

Abstract

A new c.740G>A (R247H) mutation in OPA1 alternate spliced exon 5b was found in a patient presenting with bilateral optic neuropathy followed by partial, spontaneous visual recovery. R247H fibroblasts from the patient and his unaffected father presented unusual highly tubular mitochondrial network, significant increased susceptibility to apoptosis, oxidative phosphorylation uncoupling, and altered OPA1 protein profile, supporting the pathogenicity of this mutation. These results suggest that the clinical spectrum of the OPA1-associated optic neuropathies may be larger than previously described, and that spontaneous recovery may occur in cases harboring an exon 5b mutation
Udgivelsesdato: 2008/5

Original language	English
Journal	Annals of Neurology
Volume	63
Issue number	5
Pages (from-to)	667-671
Number of pages	4
ISSN	0364-5134
Publication status	Published - 2008

Cite this

@article{50c782708bd911de8bc9000ea68e967b,

title = "Reversible optic neuropathy with OPA1 exon 5b mutation",

abstract = "A new c.740G>A (R247H) mutation in OPA1 alternate spliced exon 5b was found in a patient presenting with bilateral optic neuropathy followed by partial, spontaneous visual recovery. R247H fibroblasts from the patient and his unaffected father presented unusual highly tubular mitochondrial network, significant increased susceptibility to apoptosis, oxidative phosphorylation uncoupling, and altered OPA1 protein profile, supporting the pathogenicity of this mutation. These results suggest that the clinical spectrum of the OPA1-associated optic neuropathies may be larger than previously described, and that spontaneous recovery may occur in cases harboring an exon 5b mutation Udgivelsesdato: 2008/5",

author = "K. Cornille and D. Milea and P. Amati-Bonneau and V. Procaccio and L. Zazoun and V. Guillet and Achouri, {G. El} and C. Delettre and N. Gueguen and D. Loiseau and A. Muller and M. Ferre and A. Chevrollier and D.C. Wallace and D. Bonneau and C. Hamel and P. Reynier and G. Lenaers",

note = "Times Cited: 0ArticleEnglishLenaers, GUniv Montpellier 1, Inst Neurosci Montpellier, Inst Natl Sante & Rech Med, U583, BP74103, F-34091 Montpellier 5, FranceCited References Count: 21302HYWILEY-LISSDIV JOHN WILEY & SONS INC, 111 RIVER ST, HOBOKEN, NJ 07030 USAHOBOKEN",

year = "2008",

language = "English",

volume = "63",

pages = "667--671",

journal = "Annals of Neurology",

issn = "0364-5134",

publisher = "JohnWiley & Sons, Inc.",

number = "5",

}

TY - JOUR

T1 - Reversible optic neuropathy with OPA1 exon 5b mutation

AU - Cornille, K.

AU - Milea, D.

AU - Amati-Bonneau, P.

AU - Procaccio, V.

AU - Zazoun, L.

AU - Guillet, V.

AU - Achouri, G. El

AU - Delettre, C.

AU - Gueguen, N.

AU - Loiseau, D.

AU - Muller, A.

AU - Ferre, M.

AU - Chevrollier, A.

AU - Wallace, D.C.

AU - Bonneau, D.

AU - Hamel, C.

AU - Reynier, P.

AU - Lenaers, G.

N1 - Times Cited: 0ArticleEnglishLenaers, GUniv Montpellier 1, Inst Neurosci Montpellier, Inst Natl Sante & Rech Med, U583, BP74103, F-34091 Montpellier 5, FranceCited References Count: 21302HYWILEY-LISSDIV JOHN WILEY & SONS INC, 111 RIVER ST, HOBOKEN, NJ 07030 USAHOBOKEN

PY - 2008

Y1 - 2008

N2 - A new c.740G>A (R247H) mutation in OPA1 alternate spliced exon 5b was found in a patient presenting with bilateral optic neuropathy followed by partial, spontaneous visual recovery. R247H fibroblasts from the patient and his unaffected father presented unusual highly tubular mitochondrial network, significant increased susceptibility to apoptosis, oxidative phosphorylation uncoupling, and altered OPA1 protein profile, supporting the pathogenicity of this mutation. These results suggest that the clinical spectrum of the OPA1-associated optic neuropathies may be larger than previously described, and that spontaneous recovery may occur in cases harboring an exon 5b mutation Udgivelsesdato: 2008/5

AB - A new c.740G>A (R247H) mutation in OPA1 alternate spliced exon 5b was found in a patient presenting with bilateral optic neuropathy followed by partial, spontaneous visual recovery. R247H fibroblasts from the patient and his unaffected father presented unusual highly tubular mitochondrial network, significant increased susceptibility to apoptosis, oxidative phosphorylation uncoupling, and altered OPA1 protein profile, supporting the pathogenicity of this mutation. These results suggest that the clinical spectrum of the OPA1-associated optic neuropathies may be larger than previously described, and that spontaneous recovery may occur in cases harboring an exon 5b mutation Udgivelsesdato: 2008/5

M3 - Journal article

SN - 0364-5134

VL - 63

SP - 667

EP - 671

JO - Annals of Neurology

JF - Annals of Neurology

IS - 5

ER -