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Research Articles Related to LHON PLUS and LHON MS

Overview:

Leber Hereditary Optic Neuropathy Yu-Wai-Man P, Chinnery PF https://www.ncbi.nlm.nih.gov/pubmed/20301353  

Mitochondrial Optic Neuropathies - Disease Mechanisms and Therapeutic strategies. 

Mitochondrial optic neuropathies – Disease mechanisms and therapeutic strategies

Yu-Wai-Man P, Griffiths PG, Chinnery PF

Prog Retin Eye Res. 2011 Mar; 30(2-2): 81–114.

doi:  10.1016/j.preteyeres.2010.11.002

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3081075/

 

Neurological features:

1. Leber's "plus": neurological abnormalities in patients with Leber's hereditary

optic neuropathy.

Nikoskelainen EK, Marttila RJ, Huoponen K, Juvonen V, Lamminen T, Sonninen P,

Savontaus ML.

Journal of Neurology, Neurosurgery, and Psychiatry. 1995 Aug; 59(2): 160-164

PMC [article] PMCID: PMC485991, PMID: 7629530

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC485991/pdf/jnnpsyc00020-0050.pdf

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC485991/

2. Retinal ganglion cell neurodegeneration in mitochondrial inherited disorders. Carelli V, La Morgia C, Valentino ML, Barboni P, Ross-Cisneros FN, Sadun AA.

Biochim Biophys Acta. 2009 May;1787(5):518-28. doi: 10.1016/j.bbabio.2009.02.024.

Review. PubMed [citation] PMID: 19268652

3. Leber's optic neuropathy associated with disseminated white matter disease: a case report and review.  Perez F, Anne O, Debruxelles S, Menegon P, Lambrecq V, Lacombe D, Martin-NegrierML, Brochet B, Goizet C. Clin Neurol Neurosurg. 2009

Jan;111(1):83-6. doi: 10.1016/j.clineuro.2008.06.021. Review. PubMed [citation]

PMID: 18848389

4. Leber's Hereditary Optic Neuropathy with Olivocerebellar Degeneration due to G11778A and T3394C Mutations in the Mitochondrial DNANakaso K1, Adachi YFusayasu EDoi KImamura KYasui KNakashima K.

 J Clin Neurol. 2012 Sep;8(3):230-4. doi: 10.3988/jcn.2012.8.3.230. Epub 2012 Sep 27.https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3469805/pdf/jcn-8-230.pdf

https://www.ncbi.nlm.nih.gov/pubmed/23091534

5. Hereditary optic neuropathies share a common mitochondrial coupling

defect. Chevrollier A, Guillet V, Loiseau D, Gueguen N, de Crescenzo MA, Verny C, Ferre M, Dollfus H, Odent S, Milea D, Goizet C, Amati-Bonneau P, Procaccio V, BonneauD, Reynier P. Ann Neurol. 2008 Jun;63(6):794-8. doi: 10.1002/ana.21385. PubMed[citation] PMID: 18496845

https://www.ncbi.nlm.nih.gov/pubmed/?term=Chevrollier+A%2C+Guillet+V%2C+Loiseau+D%2C+Gueguen+N%2C+de+Crescenzo+MA%2C+Verny+C%2C+Ferre+M%2C+Dollfus+H%2C+Odent+S%2C+Milea+D%2C+Goizet+C%2C+Amati-Bonneau+P%2C+Procaccio+V%2C+Bonneau+D%2C+Reynier+P.+Hereditary+optic+neuropathies

 

Cardiac Disorders and LHON

1. Cardiac Disorders in Patients with Leber Hereditary Optic Neuropathy

Orssaud, Cristophe, MD

Journal of Neuro-Ophtalmology: December 2018 _Volume 38 - Issue 4 - p. 466 

469  doi: 10.1097/WNO.0000000000000623

https://www.ncbi.nlm.nih.gov/pubmed/29384800

2. Perioperative management of patients with genetic multisystem diseases associated with pre‑excitation. Staikou C1, Stamelos M1, Stavroulakis E2. Anaesthesiol Intensive Ther. 2019;51(2):133-146. doi: 10.5114/ait.2019.86278.

https://www.ncbi.nlm.nih.gov/pubmed/31268275?dopt=Abstract

Dystonia​ and Myoclonus:

1. Complex I function in familial and sporadic dystonia

Schapira AH, Warner T, Gash MT, Cleeter MW, Marinho CF, Cooper JM. . Ann Neurol. 1997 Apr;41(4):556-9.

PubMed [citation] PMID: 9124815

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3580789/

 

2. Pediatric-onset dystonia associated with bilateral

striatal necrosis and G14459A mutation in a Korean family: a case report.

Kim IS, Ki CS, Park KJ. J

Korean Med Sci. 2010 Jan;25(1):180-4. doi: 10.3346/jkms.2010.25.1.180. PubMed

[citation] PMID: 20052369, PMCID: PMC2800009 https://www.ncbi.nlm.nih.gov/pubmed/20052369

LHON and Multiple Sclerosis:

1. A multiple sclerosis-like illness in a man harboring the

mtDNA 14484 mutation Bhatti MT, Newman NJ. . J Neuroophthalmol. 1999 Mar;19(1):28-33. Review. PubMed [citation] PMID: 10098545

https://www.ncbi.nlm.nih.gov/pubmed/10098545
 

2. Mitochondrial

mutations of Leber's hereditary optic neuropathy: a risk factor for multiple

sclerosis.  Vanopdenbosch L, Dubois B, D'Hooghe MB, Meire F, Carton H. J Neurol. 2000 Jul;247(7):535-43. PubMed [citation] PMID: 10993496

https://www.ncbi.nlm.nih.gov/pubmed/10993496

 

3. Leber's hereditary optic neuropathy mutations in

Korean patients with multiple sclerosis.

Hwang JM, Chang BL, Park SS. Ophthalmologica. 2001

Nov-Dec;215(6):398-400. PubMed [citation] PMID: 11741103

4. Leber's optic neuropathy associated with disseminated

white matter disease: a case report and review. Perez F, Anne O, Debruxelles S, Menegon P, Lambrecq V, Lacombe D, Martin-NegrierML, Brochet B, Goizet C. Clin Neurol Neurosurg. 2009

Jan;111(1):83-6. doi: 10.1016/j.clineuro.2008.06.021. Review. PubMed [citation]

PMID: 18848389 

http://europepmc.org/abstract/med/18848389

5. Leber's hereditary optic neuropathy associated with a multiple-sclerosis-like picture in a man.

La Russa A, Cittadella R, Andreoli V, Valentino P, Trecroci F, Caracciolo M,Gallo O, Gambardella A, Quattrone A. Mult Scler. 2011

Jun;17(6):763-6. doi: 10.1177/1352458511404033. PubMed [citation] PMID: 21685233

https://www.ncbi.nlm.nih.gov/pubmed/21685233

6.  Clinical features of MS associated with Leber hereditary optic neuropathy mtDNA mutations. Pfeffer G1, Burke AYu-Wai-Man PCompston DAChinnery PF.

Neurology. 2013 Dec 10;81(24):2073-81. doi: 10.1212/01.wnl.0000437308.22603.43. Epub 2013 Nov 6.

7.  Mitochondria in neuroinflammation - Multiple sclerosis (MS), leber hereditary optic neuropathy (LHON) and LHON-MS.  Bargiela D1, Chinnery PF2. Neurosci Lett. 2017 Jun 28. pii: S0304-3940(17)30543-8. doi: 10.1016/j.neulet.2017.06.051  

https://www.sciencedirect.com/science/article/pii/S0304394017305438?via%3Dihub

MRI Imaging:

1. Magnetic resonance imaging, magnetisation transfer imaging, and diffusion

weighted imaging correlates of optic nerve, brain, and cervical cord damage in

Leber's hereditary optic neuropathy.

Inglese M, Rovaris M, Bianchi S, Mantia L, Mancardi G, Ghezzi A, Montagna P,

Salvi F, Filippi M.

Journal of Neurology, Neurosurgery, and Psychiatry. 2001 Apr; 70(4): 444-449

PMC [article] PMCID: PMC1737306, PMID: 11254765, DOI: 10.1136/jnnp.70.4.444

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1737306/pdf/v070p00444.pdf

 

2, White matter abnormalities in Leber's hereditary optic neuropathy due to the 3460

mitochondrial DNA mutation.

Lev D, Yanoov-Sharav M, Watemberg N, Leshinsky-Silver E, Lerman-Sagie T. Eur J Paediatr Neurol. 2002;6(2):121-3. PubMed

[citation] PMID: 11995959

https://www.ncbi.nlm.nih.gov/pubmed/11995959

 

3. Late-onset progressive visual loss in a man with unusual MRI findings: MS, Harding's, Leber's or Leber's Plus?

Cawley N, Molloy A, Cassidy L, Tubridy N. Ir J Med

Sci. 2010 Dec;179(4):599-601. doi: 10.1007/s11845-010-0586-z. PubMed [citation]

PMID: 20882363  

https://www.ncbi.nlm.nih.gov/pubmed/20882363

4. Leber's optic neuropathy associated with disseminated white matter disease: a case report and review. Perez F, Anne O, Debruxelles S, Menegon P, Lambrecq V, Lacombe D, Martin-Negrier ML, Brochet B, Goizet C. Clin Neurol Neurosurg. 2009 Jan;111(1):83-6. doi: 10.1016/j.clineuro.2008.06.021. Review. PubMed [citation]

PMID: 18848389

http://www.clineu-journal.com/article/S0303-8467(08)00263-1/abstract

5. MRI Of the Optic Nerves and Chiasm in Patients with Lebers Hereditary Optic Neuropathy.  Blanc C1, Heran FHabas CBejot YSahel JVignal-Clermont C.

J Neuroophthalmol. 2018 Dec;38(4):434-437. doi: 10.1097/WNO.0000000000000621.

LHON and MITOCHONDRIAL DISEASE:

1, Khaled K. Abu-Amero,  Leber's Hereditary Optic Neuropathy: The Mitochondrial Connection Revisited

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3085146/

Optic Neuropathy in LHON and Leighs Syndrome:

1. Carelli V, Sadun A. Optic Neuropathy in LHON and Leighs Syndrome

http://www.aaojournal.org/article/S0161-6420(01)00618-2/pdf

2. Leigh-like encephalopathy complicating Leber's hereditary optic

neuropathy. Funalot B, Reynier P, Vighetto A, Ranoux D, Bonnefont JP, Godinot C, Malthièry Y,Mas JL.
Ann Neurol. 2002 Sep;52(3):374-7. PubMed [citation] PMID: 12205655

https://www.ncbi.nlm.nih.gov/pubmed/12205655

G14459A Mitochondrial DNA mutation and clinical manifestation:

1. Variable clinical manifestation of homoplasmic G14459A mitochondrial DNA

mutation.

Gropman A, Chen TJ, Perng CL, Krasnewich D, Chernoff E, Tifft C, Wong LJ. Am J Med Genet A. 2004 Feb 1;124A(4):377-82. PubMed [citation] PMID:

14735585

2. Clinical variability in maternally inherited leber hereditary optic neuropathy with the

G14459A mutation.Tarnopolsky MA, Baker SK, Myint T, Maxner CE, Robitaille J, Robinson BH. Am J Med Genet A. 2004 Feb 1;124A(4):372-6. PubMed [citation]

PMID: 14735584

3. Kim IS, Ki CS, Park KJ. Pediatric-onset dystonia associated with bilateral

striatal necrosis and G14459A mutation in a Korean family: a case report. J

Korean Med Sci. 2010 Jan;25(1):180-4. doi: 10.3346/jkms.2010.25.1.180. PubMed

[citation] PMID: 20052369, PMCID: PMC2800009

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2800009/

3460 Mutation and LHON 

1. White matter abnormalities in Leber's hereditary optic neuropathy due to the 3460

mitochondrial DNA mutation.

Lev D, Yanoov-Sharav M, Watemberg N, Leshinsky-Silver E, Lerman-Sagie T. Eur J Paediatr Neurol. 2002;6(2):121-3. PubMed

[citation] PMID: 11995959 https://www.ncbi.nlm.nih.gov/pubmed/11995959

Atypical presentations and genetic variants:

1. Atypical presentation of Leber's hereditary optic neuropathy associated to mtDNA

11778G>A point mutation--A case report.

Grazina MM, Diogo LM, Garcia PC, Silva ED, Garcia TD, Robalo CB, Oliveira CR. Eur J Paediatr Neurol. 2007

Mar;11(2):115-8. PubMed [citation] PMID: 17254817

2. Hereditary optic neuropathies share a common mitochondrial coupling

defect.Chevrollier A, Guillet V, Loiseau D, Gueguen N, de Crescenzo MA, Verny C, Ferre M, Dollfus H, Odent S, Milea D, Goizet C, Amati-Bonneau P, Procaccio V, BonneauD, Reynier P. Ann Neurol. 2008 Jun;63(6):794-8. doi: 10.1002/ana.21385. PubMed [citation] PMID: 1849684

Myoclonus and rare mtDNA variants of LHON

1. Rare mtDNA variants in Leber

hereditary optic neuropathy families with recurrence of myoclonus.

La Morgia C, Achilli A, Iommarini L, Barboni P, Pala M, Olivieri A, Zanna C,

Vidoni S, Tonon C, Lodi R, Vetrugno R, Mostacci B, Liguori R, Carroccia R,Montagna P, Rugolo M, Torroni A, Carelli V. Neurology.

2008 Mar 4;70(10):762-70. doi: 10.1212/01.wnl.0000295505.74234.d0. PubM

ed[citation] PMID: 18216301

Melas and LHON/ Dystonia

1. A MELAS-associated ND1 mutation causing leber hereditary optic neuropathy and spastic dystonia.

Spruijt L, Smeets HJ, Hendrickx A, Bettink-Remeijer MW, Maat-Kievit A,Schoonderwoerd KC, Sluiter W, de Coo IF, Hintzen RQ. Arch

Neurol. 2007 Jun;64(6):890-3. PubMed [citation] PMID: 17562939

http://jamanetwork.com/journals/jamaneurology/fullarticle/793995

2. Unique presentation of LHON/MELAS overlap syndrome caused by m.13046T>C in MTND5 Kolarova H, Liskova P, Tesarova M, Kucerova Vidrova V, Forgac M, Zamecnik J,

Hansikova H, Honzik T. . Ophthalmic Genet. 2016 Dec;37(4):419-423. PubMed [citation] PMID: 26894521 

https://www.ncbi.nlm.nih.gov/pubmed/?term=26894521

 

3. Complex I function in familial and sporadic dystonia.

Schapira AH, Warner T, Gash MT, Cleeter MW, Marinho CF, Cooper JM. Ann Neurol. 1997 Apr;41(4):556-9.

PubMed [citation] PMID: 9124815  https://www.ncbi.nlm.nih.gov/pubmed/?term=Schapira+AH%2C+Warner+T%2C+Gash+MT%2C+Cleeter+MW%2C+Marinho+CF%2C+Cooper+JM.+Complex+I+function+in+familial+and+sporadic+dystonia.+Ann+Neurol.+1997+Apr%3B41(4)%3A556-9.+PubMed+%5Bcitation%5D+PMID%3A+9124815

 

Atypical presentation of LHON 11778 mutation

1. Atypical presentation of Leber's hereditary optic neuropathy associated to mtDNA

11778G>A point mutation--A case report.

Grazina MM, Diogo LM, Garcia PC, Silva ED, Garcia TD, Robalo CB, Oliveira CR. Eur J Paediatr Neurol. 2007

Mar;11(2):115-8. PubMed [citation] PMID: 17254817

http://www.ejpn-journal.com/article/S1090-3798(06)00179-6/abstract