Kearns-Sayre syndrome and complex II deficiency

M. H. Rivner, M. Shamsnia, T. R. Swift, J. Trefz, R. A. Roesel, A. L. Carter, W. Yanamura, F. A. Hommes

Research output: Contribution to journalArticle

64 Citations (Scopus)

Abstract

A 25-year-old woman with Kearns-Sayre syndrome (KSS) had complete external ophthalmoplegia, short stature, ataxia, cardiac conduction defects, and pigmentary retinopathy. Muscle biopsy revealed ragged-red fibers. Electron microacopy showed increased numbers of mitochondria with disordered structure and paracrystalline inclusions. Enzymatic analysis revealed a deficiency of complex II of the mitochondrial respiratory chain, and, more specifically, a deficiency of succinic dehydrogenase, although both subunits of this enzyme proved to be present by immunologic analysis. Therapy with vitamin cofactors did not result in short-term improvement. This appears to be the first report of complex II deficiency in a patient with KSS.

Original languageEnglish (US)
Pages (from-to)693-696
Number of pages4
JournalNeurology
Volume39
Issue number5
StatePublished - May 1989

Fingerprint

Kearns-Sayre Syndrome
Ophthalmoplegia
Retinitis Pigmentosa
Succinate Dehydrogenase
Ataxia
Electron Transport
Vitamins
Mitochondria
Electrons
Biopsy
Muscles
Enzymes
Therapeutics

ASJC Scopus subject areas

  • Clinical Neurology

Cite this

Rivner, M. H., Shamsnia, M., Swift, T. R., Trefz, J., Roesel, R. A., Carter, A. L., ... Hommes, F. A. (1989). Kearns-Sayre syndrome and complex II deficiency. Neurology, 39(5), 693-696.

Kearns-Sayre syndrome and complex II deficiency. / Rivner, M. H.; Shamsnia, M.; Swift, T. R.; Trefz, J.; Roesel, R. A.; Carter, A. L.; Yanamura, W.; Hommes, F. A.

In: Neurology, Vol. 39, No. 5, 05.1989, p. 693-696.

Research output: Contribution to journalArticle

Rivner, MH, Shamsnia, M, Swift, TR, Trefz, J, Roesel, RA, Carter, AL, Yanamura, W & Hommes, FA 1989, 'Kearns-Sayre syndrome and complex II deficiency', Neurology, vol. 39, no. 5, pp. 693-696.
Rivner MH, Shamsnia M, Swift TR, Trefz J, Roesel RA, Carter AL et al. Kearns-Sayre syndrome and complex II deficiency. Neurology. 1989 May;39(5):693-696.
Rivner, M. H. ; Shamsnia, M. ; Swift, T. R. ; Trefz, J. ; Roesel, R. A. ; Carter, A. L. ; Yanamura, W. ; Hommes, F. A. / Kearns-Sayre syndrome and complex II deficiency. In: Neurology. 1989 ; Vol. 39, No. 5. pp. 693-696.
@article{e9d5a70a410e48da99122eed8d4e5d57,
title = "Kearns-Sayre syndrome and complex II deficiency",
abstract = "A 25-year-old woman with Kearns-Sayre syndrome (KSS) had complete external ophthalmoplegia, short stature, ataxia, cardiac conduction defects, and pigmentary retinopathy. Muscle biopsy revealed ragged-red fibers. Electron microacopy showed increased numbers of mitochondria with disordered structure and paracrystalline inclusions. Enzymatic analysis revealed a deficiency of complex II of the mitochondrial respiratory chain, and, more specifically, a deficiency of succinic dehydrogenase, although both subunits of this enzyme proved to be present by immunologic analysis. Therapy with vitamin cofactors did not result in short-term improvement. This appears to be the first report of complex II deficiency in a patient with KSS.",
author = "Rivner, {M. H.} and M. Shamsnia and Swift, {T. R.} and J. Trefz and Roesel, {R. A.} and Carter, {A. L.} and W. Yanamura and Hommes, {F. A.}",
year = "1989",
month = "5",
language = "English (US)",
volume = "39",
pages = "693--696",
journal = "Neurology",
issn = "0028-3878",
publisher = "Lippincott Williams and Wilkins",
number = "5",

}

TY - JOUR

T1 - Kearns-Sayre syndrome and complex II deficiency

AU - Rivner, M. H.

AU - Shamsnia, M.

AU - Swift, T. R.

AU - Trefz, J.

AU - Roesel, R. A.

AU - Carter, A. L.

AU - Yanamura, W.

AU - Hommes, F. A.

PY - 1989/5

Y1 - 1989/5

N2 - A 25-year-old woman with Kearns-Sayre syndrome (KSS) had complete external ophthalmoplegia, short stature, ataxia, cardiac conduction defects, and pigmentary retinopathy. Muscle biopsy revealed ragged-red fibers. Electron microacopy showed increased numbers of mitochondria with disordered structure and paracrystalline inclusions. Enzymatic analysis revealed a deficiency of complex II of the mitochondrial respiratory chain, and, more specifically, a deficiency of succinic dehydrogenase, although both subunits of this enzyme proved to be present by immunologic analysis. Therapy with vitamin cofactors did not result in short-term improvement. This appears to be the first report of complex II deficiency in a patient with KSS.

AB - A 25-year-old woman with Kearns-Sayre syndrome (KSS) had complete external ophthalmoplegia, short stature, ataxia, cardiac conduction defects, and pigmentary retinopathy. Muscle biopsy revealed ragged-red fibers. Electron microacopy showed increased numbers of mitochondria with disordered structure and paracrystalline inclusions. Enzymatic analysis revealed a deficiency of complex II of the mitochondrial respiratory chain, and, more specifically, a deficiency of succinic dehydrogenase, although both subunits of this enzyme proved to be present by immunologic analysis. Therapy with vitamin cofactors did not result in short-term improvement. This appears to be the first report of complex II deficiency in a patient with KSS.

UR - http://www.scopus.com/inward/record.url?scp=0024564240&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0024564240&partnerID=8YFLogxK

M3 - Article

C2 - 2710360

AN - SCOPUS:0024564240

VL - 39

SP - 693

EP - 696

JO - Neurology

JF - Neurology

SN - 0028-3878

IS - 5

ER -