65
Views
0
CrossRef citations to date
0
Altmetric
Case Reports

Ptosis as the Only Presenting Feature of a Mitochondrial Cytopathy

, , , &
Pages 284-288 | Received 10 Sep 2010, Accepted 08 Aug 2011, Published online: 02 Dec 2011

REFERENCES

  • Millay DJ, Larrabee WF. Ptosis and blepharoplasty surgery. Arch Otolaryngol Head Neck Surg 1989;115:198–201.
  • Le Forestier NL, Romain K, Gherardi RK, Meyrignac C, Annane D, Marsac C. Myasthenic symptoms in patients with mitochondrial myopathies. Muscle Nerve 1995;18:1338–1340.
  • Wong VA, Beckingsdale PS, Oley CA, Sullivan TJ. Management of myogenic ptosis. Ophthalmology 2002;109:1023–1031.
  • Sridhavan GV, Tallis RC, Leatherbarrow B, Foreman WN. A community survey of ptosis of eyelid and pupil size of elderly people. Age Aging 1995;24:21–24.
  • Petty RKH, Harding AE, Morgan-Hughes JA. The clinical features of mitochondrial myopathy. Brain 1986;109:915–938.
  • Richardson C, Smith T, Schaefer A, Turnbull D, Griffith P. Ocular motility findings in chronic progressive external ophthalmoplegia. Eye 2005;19:258–263.
  • Holt IJ, Harding AE, Morgan-Hughes J. Deletions of muscle mitochondrial DNA in patients with mitochondrial myopathies. Nature 1988;331:717–719.
  • Goto Y, Koga Y, Horai S, Nonaka I. Chronic progressive external ophthalmoplegia: a correlative study of mitochondrial DNA deletions and their phenotypic expression in muscle biopsies. J Neurol Sci 1990;100:63–69.
  • Wallace DC, Lott MT, Shoffner JM, Ballinger S. Mitochondrial DNA mutations in epilepsy and neurological disease. Epilepsia 1994;35:43–50.
  • Ogier de Baulny H,,Bartelemy C, Diaz J, Arnelle Cheval M, Fachon P, Romero N, Coutieres F. Late onset mitochondrial DNA depletion: DNA copy number, multiple deletions and compensation. Ann Neurol 2001;49:607–617.
  • Virgilio R, Ronchi D, Hadjigeogiou G, Bordoni A, Saladino F, Moggio M, Bresolin N, Comi GP. Novel Twinkle (PEO1) gene mutation in mendelian progressive external ophthalmoplegia. J Neurol 2008;255:1384–1391.
  • Finsterer J, Harbo HF, Baets J, Van Broeckhoven C, Di Donato S, Fontaine B, De Jonghe P, Lossos A, Lynch T, Mariotti C, Schols L, Spinazzola A, Szolnokim Z, Tabrizin SJ, Tallakseno CME, Zeviani M. EFNS guidelines on the molecular diagnosis of mitochondrial disorders. Eur J Neurol 2009;16:1255–1264.
  • Ghezzi D, Sevrioukova I, Invernizzi F, Lamperti C, Mora M, D’Adamo P, Novara F, Zuffardi O, Uziel G, Zeviani M. Severe X-linked mitochondrial encephalomyopathy associated with a mutation in apoptosis-inducing factor. Am J Hum Genet 2010;86:639–649.
  • Marchington D, Malik S, Banerjee A, Turner K, Samuels D, Macaulay V, Oakeshott P, Fratter C, Kennedy S, Poulton J. Information for genetic management of mtDNA disease: sampling pathogenic mtDNA mutants in the human germline and in placenta. J Med Genet 2010;47:257–261.
  • Jeppesen TD, Schwartz M, Olsen DB, Vissing J. Oxidative capacity correlates with muscle mutation load in mitochondrial myopathy. Ann Neurol 2003;54:86–92.
  • Yu Wai Man CY, Chinnery PF, Griffiths PG. Extraocular muscles have fundamentally distinct properties that make them selectively vulnerable to certain disorders. Neuromusc Disord 2005;15:17–23.
  • Greaves LC, Yu-Wai-Man P, Blakely EL, Krishnan KJ, Beadle NE, Kerin J, Barron MJ, Griffiths PG, Dickinson AJ, Turnbull DM, Taylor RW. Mitochondrial DNA defects and selective extraocular muscle involvement in chronic progressive external ophthalmoplegia. Invest Ophthalmol Vis Sci 2010;51:3340–3346.
  • Yu Wai Man P, Lai-Cheong J, Borthwick GM, Taylor GA, Greaves LC, Taylor RW, Griffiths PG, Turnbull DM. Somatic mitochondrial DNA deletions accumulate to high levels in aging human extraocular muscles. Invest Ophthalmol Vis Sci 2010;51:3347–3353.
  • Li Y, Hengstenberg C, Maisch B. Whole mitochondrial genome. Biochem Biophys Res Commun 1995;210:211–218.
  • Johnston W, Karpati G, Carpenter S, Arnold D, Shoubridge EA. Late onset mitochondrial myopathy. Ann Neurol 1995;37:16–23.
  • Rifai Z, Welle S, Kamp C, Thornton CA. Ragged red fibers in normal aging and inflammatory myopathy. Ann Neurol 1995;37:24–2715.
  • Cortopassi GA, Shibata D, Soong NW, Arnheim N. A pattern of accumulation of a somatic deletion of mitochondrial DNA in aging human tissues. Proc Natl Acad Sci U S A 1992;89:7370–7374.
  • Wanrooij S, Petri Luoma P, Gert van Goethem G, van Broeckhoven. Twinkle and POLG defects enhance age-dependent accumulation of mutations in the control region of mtDNA. Nucleic Acids Res 2004;32:3053–3064.
  • Shigenaga MK, Hagen TM, Ames BN. Oxidative damage and mitochondrial decay in aging. Proc Natl Acad Sci U S A 1994;91:10771–10778.
  • Carta A, D’Adda T, Carrara F, Zeviani M. Ultrastructural analysis of extraocular muscles in chronic progressive external ophthalmoloplegia. Arch Ophthalmol 2000;118:1441–1445.
  • Hirano M, DiMauro S. ANT1, Twinkle, POLG and TP: new genes open our eyes to ophthalmoplegia. Neurology 2000;57:2163–2165.
  • Tyynismaa H, Ylikallio E, Patel M, Molnar MJ, Haller RG, Suomalainen A. HYPERLINK “http://www.library.nhs.uk/booksandjournals/advanced/search.aspx?ItemSubCollection=bnj.ovi.prmz&ItemId=ovid.com:/bib/medline/19664747&Id = 7” A heterozygous truncating mutation in RRM2B causes autosomal-dominant progressive external ophthalmoplegia with multiple mtDNA deletions. Am J Hum Genet 2009;85:290–295.
  • Hudson G, Amati-Bonneau P, Blakely EL, Stewart JD, He L, Schaefer AM, Griffiths PG, Ahlqvist K, Suomalainen A, Reynier P, McFarland R, Turnbull DM, Chinnery PF, Taylor RW. HYPERLINK “http://www.library.nhs.uk/booksandjournals/advanced/search.aspx?ItemSubCollection=bnj.ovi.prmz&ItemId=ovid.com:/bib/medline/18065439&Id = 2” Mutation of OPA1 causes dominant optic atrophy with external ophthalmoplegia, ataxia, deafness and multiple mitochondrial DNA deletions: a novel disorder of mtDNA maintenance. Brain 2008;131:329–337.
  • Fratter C, Gorman GS, Stewart JD, M. Buddles, Smith C, Evans J, Seller A, Poulton J, Roberts M, Hanna MG, Rahman S. The clinical, histochemical, and molecular spectrum of PEO1 (Twinkle)-linked adPEO. Neurology 2010;74:1619–1626.
  • Blok MJ, Van den Bosch BJ, Jongen E. The unfolding clinical spectrum of POLG mutations. J Med Genet 2009;46:776–785.
  • Pagliarini DJ, Calvo SE, Chang B, Sheth S.A., Vafai SB, Ong SE, Walford GA, Sugiana C, Boneh A, Chen WK. A mitochondrial protein compendium elucidates complex I disease biology. Cell 2008;134:112–123.
  • Olson W, Engel WK, Walsh GO, Einaugler R, Oculocraniosomatic neuromuscular disease with ragged red fibres. Arch Neurol 1972;26:193–211.
  • Krendel KA, Sanders DB, Massey JM. Single fibre electromyography in chronic progressive external ophthalmoplegia. Muscle Nerve 1987;10:299–302.

Reprints and Corporate Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

To request a reprint or corporate permissions for this article, please click on the relevant link below:

Academic Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

Obtain permissions instantly via Rightslink by clicking on the button below:

If you are unable to obtain permissions via Rightslink, please complete and submit this Permissions form. For more information, please visit our Permissions help page.