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 DNA. Nakaso K1, Adachi Y, Fusayasu E, Doi K, Imamura K, Yasui K, Nakashima 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
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 A, Yu-Wai-Man P, Compston DA, Chinnery 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 F, Habas C, Bejot Y, Sahel J, Vignal-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
​
​
