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Autosomal dominant progressive external ophthalmoplegia

MedGen UID:: 1686757
•Concept ID:: C5231255
•: Disease or Syndrome

Synonyms:	adPEO; adPEO - autosomal dominant progressive external ophthalmoplegia; autosomal dominant progressive external ophthalmoplegia; PEOA1; progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1; progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant type 1; progressive external ophthalmoplegia, autosomal dominant
SNOMED CT:	Autosomal dominant progressive external ophthalmoplegia (827115000); adPEO - autosomal dominant progressive external ophthalmoplegia (827115000)
Modes of inheritance:	Autosomal dominant inheritance MedGen UID: 141047 •Concept ID: C0443147 • Intellectual Product Source: Orphanet A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. Autosomal dominant inheritance (Orphanet)

Related gene: Gene(s) associated with related conditions. For conditions in a hierarchy, the parent condition will list the genes associated with the children conditions.	POLG

Monarch Initiative:	MONDO:0008003
Orphanet:	ORPHA254892

Definition

A rare genetic neuro-ophthalmological disease with characteristics of progressive weakness of the external eye muscles, resulting in bilateral ptosis and diffuse symmetric ophthalmoparesis. Additional signs may include skeletal muscle weakness, cataracts, hearing loss, sensory axonal neuropathy, ataxia, parkinsonism, cardiomyopathy, hypogonadism and depression. It is usually less severe than autosomal recessive form. [from SNOMEDCT_US]

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

Autosomal dominant progressive external ophthalmoplegia
- CROGVProgressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1

Multiple mitochondrial DNA deletion syndrome
- Autosomal dominant progressive external ophthalmoplegia
  - Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1

Professional guidelines

PubMed

Clinical criteria for diagnosis of Machado-Joseph disease: report of a non-Azorena Portuguese family.

Lima L, Coutinho P
Neurology 1980 Mar;30(3):319-22. doi: 10.1212/wnl.30.3.319. PMID: 7189034

See all (1)

Recent clinical studies

Etiology

Molecular and clinical genetics of mitochondrial diseases due to POLG mutations.

Wong LJ, Naviaux RK, Brunetti-Pierri N, Zhang Q, Schmitt ES, Truong C, Milone M, Cohen BH, Wical B, Ganesh J, Basinger AA, Burton BK, Swoboda K, Gilbert DL, Vanderver A, Saneto RP, Maranda B, Arnold G, Abdenur JE, Waters PJ, Copeland WC
Hum Mutat 2008 Sep;29(9):E150-72. doi: 10.1002/humu.20824. PMID: 18546365 Free PMC Article

Alteration of nucleotide metabolism: a new mechanism for mitochondrial disorders.

Martí R, Nishigaki Y, Vilá MR, Hirano M
Clin Chem Lab Med 2003 Jul;41(7):845-51. doi: 10.1515/CCLM.2003.128. PMID: 12940507

Diseases caused by nuclear genes affecting mtDNA stability.

Suomalainen A, Kaukonen J
Am J Med Genet 2001 Spring;106(1):53-61. doi: 10.1002/ajmg.1379. PMID: 11579425

Multiple mtDNA deletions features in autosomal dominant and recessive diseases suggest distinct pathogeneses.

Carrozzo R, Hirano M, Fromenty B, Casali C, Santorelli FM, Bonilla E, DiMauro S, Schon EA, Miranda AF
Neurology 1998 Jan;50(1):99-106. doi: 10.1212/wnl.50.1.99. PMID: 9443465

Anticipation of autosomal dominant progressive external ophthalmoplegia with hypogonadism.

Melberg A, Arnell H, Dahl N, Stålberg E, Raininko R, Oldfors A, Bakall B, Lundberg PO, Holme E
Muscle Nerve 1996 Dec;19(12):1561-9. doi: 10.1002/(SICI)1097-4598(199612)19:12<1561::AID-MUS5>3.0.CO;2-8. PMID: 8941270

See all (9)

Diagnosis

Rahman S, Copeland WC
Nat Rev Neurol 2019 Jan;15(1):40-52. doi: 10.1038/s41582-018-0101-0. PMID: 30451971 Free PMC Article

Molecular and clinical genetics of mitochondrial diseases due to POLG mutations.

Mapping of autosomal dominant progressive external ophthalmoplegia to a 7-cM critical region on 10q24.

Li FY, Tariq M, Croxen R, Morten K, Squier W, Newsom-Davis J, Beeson D, Larsson C
Neurology 1999 Oct 12;53(6):1265-71. doi: 10.1212/wnl.53.6.1265. PMID: 10522883

Neuro-ophthalmic genetics.

Kerrison JB, Maumenee IH
Curr Opin Ophthalmol 1997 Dec;8(6):35-40. doi: 10.1097/00055735-199712000-00006. PMID: 10176101

Anticipation of autosomal dominant progressive external ophthalmoplegia with hypogonadism.

See all (14)

Therapy

Autosomal dominant progressive external ophthalmoplegia: distribution of multiple mitochondrial DNA deletions.

Moslemi AR, Melberg A, Holme E, Oldfors A
Neurology 1999 Jul 13;53(1):79-84. doi: 10.1212/wnl.53.1.79. PMID: 10408540

Rhabdomyolysis in autosomal dominant progressive external ophthalmoplegia.

Melberg A, Holme E, Oldfors A, Lundberg PO
Neurology 1998 Jan;50(1):299-300. doi: 10.1212/wnl.50.1.299. PMID: 9443501

An autosomal locus predisposing to multiple deletions of mtDNA on chromosome 3p.

Kaukonen JA, Amati P, Suomalainen A, Rötig A, Piscaglia MG, Salvi F, Weissenbach J, Fratta G, Comi G, Peltonen L, Zeviani M
Am J Hum Genet 1996 Apr;58(4):763-9. PMID: 8644740 Free PMC Article

See all (3)

Prognosis

Novel Twinkle gene mutation in autosomal dominant progressive external ophthalmoplegia and multisystem failure.

Bohlega S, Van Goethem G, Al Semari A, Löfgren A, Al Hamed M, Van Broeckhoven C, Kambouris M
Neuromuscul Disord 2009 Dec;19(12):845-8. Epub 2009 Oct 22 doi: 10.1016/j.nmd.2009.10.002. PMID: 19853444

Molecular and clinical genetics of mitochondrial diseases due to POLG mutations.

Mutation of the linker region of the polymerase gamma-1 (POLG1) gene associated with progressive external ophthalmoplegia and Parkinsonism.

Hudson G, Schaefer AM, Taylor RW, Tiangyou W, Gibson A, Venables G, Griffiths P, Burn DJ, Turnbull DM, Chinnery PF
Arch Neurol 2007 Apr;64(4):553-7. doi: 10.1001/archneur.64.4.553. PMID: 17420318

Structure-function defects of human mitochondrial DNA polymerase in autosomal dominant progressive external ophthalmoplegia.

Graziewicz MA, Longley MJ, Bienstock RJ, Zeviani M, Copeland WC
Nat Struct Mol Biol 2004 Aug;11(8):770-6. Epub 2004 Jul 18 doi: 10.1038/nsmb805. PMID: 15258572

Two families with autosomal dominant progressive external ophthalmoplegia.

Kiechl S, Horváth R, Luoma P, Kiechl-Kohlendorfer U, Wallacher-Scholz B, Stucka R, Thaler C, Wanschitz J, Suomalainen A, Jaksch M, Willeit J
J Neurol Neurosurg Psychiatry 2004 Aug;75(8):1125-8. doi: 10.1136/jnnp.2003.025890. PMID: 15258213 Free PMC Article

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Clinical prediction guides

Rod bipolar cell dysfunction in POLG retinopathy.

Sanderson KG, Millar E, Tumber A, Klatt R, Sondheimer N, Vincent A
Doc Ophthalmol 2021 Feb;142(1):111-118. Epub 2020 Jun 21 doi: 10.1007/s10633-020-09777-w. PMID: 32567010

Molecular and clinical genetics of mitochondrial diseases due to POLG mutations.

Differential phenotypes of active site and human autosomal dominant progressive external ophthalmoplegia mutations in Drosophila mitochondrial DNA helicase expressed in Schneider cells.

Matsushima Y, Kaguni LS
J Biol Chem 2007 Mar 30;282(13):9436-9444. Epub 2007 Jan 31 doi: 10.1074/jbc.M610550200. PMID: 17272269 Free PMC Article

Mapping of autosomal dominant progressive external ophthalmoplegia to a 7-cM critical region on 10q24.

Li FY, Tariq M, Croxen R, Morten K, Squier W, Newsom-Davis J, Beeson D, Larsson C
Neurology 1999 Oct 12;53(6):1265-71. doi: 10.1212/wnl.53.6.1265. PMID: 10522883

Anticipation of autosomal dominant progressive external ophthalmoplegia with hypogonadism.

See all (18)

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Autosomal dominant progressive external ophthalmoplegia

Definition

Term Hierarchy

Professional guidelines

PubMed

Recent clinical studies

Etiology

Diagnosis

Therapy

Prognosis

Clinical prediction guides

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