A case of primary optic pathway demyelination caused by oncocytic oligodendrogliopathy of unknown origin

Ahmed Z, Doherty KM, Silveira-Moriyama L, Bandopadhyay R, Lashley T, Mamais A, Hondhamuni G, Wray S, Newcombe J, O’Sullivan SS et al (2011) Globular glial tauopathies (GGT) presenting with motor neuron disease or frontotemporal dementia: an emerging group of 4-repeat tauopathies. Acta Neuropathol 122:415–428. https://doi.org/10.1007/s00401-011-0857-4

Article  CAS  PubMed  Google Scholar 

Alexander C, Votruba M, Pesch UEA, Thiselton DL, Mayer S, Moore A, Rodriguez M, Kellner U, Leo-Kottler B, Auburger G et al (2000) OPA1, encoding a dynamin-related GTPase, is mutated in autosomal dominant optic atrophy linked to chromosome 3q28. Nat Genet 26:211–215. https://doi.org/10.1038/79944

Article  CAS  PubMed  Google Scholar 

Bourahoui A, De Seze J, Guttierez R, Onraed B, Hennache B, Ferriby D, Stojkovic T, Vermersch P (2004) CSF isoelectrofocusing in a large cohort of MS and other neurological diseases. Eur J Neurol 11:525–529. https://doi.org/10.1111/j.1468-1331.2004.00822.x

Article  CAS  PubMed  Google Scholar 

Chen S, Zou JL, He S, Li W, Zhang JW, Li SJ (2022) Adult-onset autosomal dominant leukodystrophy and neuronal intranuclear inclusion disease: lessons from two new Chinese families. Neurol Sci 43:1–9. https://doi.org/10.1007/s10072-022-06057-0

Article  CAS  PubMed  Google Scholar 

Delettre C, Lenaers G, Griffoin J-M, Gigarel N, Lorenzo C, Belenguer P, Pelloquin L, Grosgeorge J, Turc-Carel C, Perret E et al (2000) Nuclear gene OPA1, encoding a mitochondrial dynamin-related protein, is mutated in dominant optic atrophy. Nat Genet 26:207–210. https://doi.org/10.1038/79936

Article  CAS  PubMed  Google Scholar 

Ding Y, Zou Q, Jin Y, Zhou J, Wang H (2020) Relationship between parathyroid oxyphil cell proportion and clinical characteristics of patients with chronic kidney disease. Int Urol Nephrol 52:155–159. https://doi.org/10.1007/s11255-019-02330-y

Article  CAS  PubMed  Google Scholar 

Echaniz-Laguna A, Chassagne M, de Seze J, Mohr M, Clerc-Renaud P, Tranchant C, Mousson de Camaret B (2010) POLG1 variations presenting as multiple sclerosis. Arch Neurol 67:1140–1143. https://doi.org/10.1001/archneurol.2010.219

Article  PubMed  Google Scholar 

Ferrer I, Andres-Benito P, Zelaya MV, Aguirre MEE, Carmona M, Ausin K, Lachen-Montes M, Fernandez-Irigoyen J, Santamaria E, Del Rio JA (2020) Familial globular glial tauopathy linked to MAPT mutations: molecular neuropathology and seeding capacity of a prototypical mixed neuronal and glial tauopathy. Acta Neuropathol 139:735–771. https://doi.org/10.1007/s00401-019-02122-9

Article  CAS  PubMed  PubMed Central  Google Scholar 

Harding AE, Sweeney MG, Miller DH, Mumford CJ, Kellar-Wood H, Menard D, McDonald WI, Compston DA (1992) Occurrence of a multiple sclerosis-like illness in women who have a Leber’s hereditary optic neuropathy mitochondrial DNA mutation. Brain 115(Pt 4):979–989. https://doi.org/10.1093/brain/115.4.979

Article  PubMed  Google Scholar 

Howell N, McCullough D, Bodis-Wollner I (1992) Molecular genetic analysis of a sporadic case of Leber hereditary optic neuropathy. Am J Hum Genet 50:443–446

CAS  PubMed  PubMed Central  Google Scholar 

Huoponen K, Vilkki J, Aula P, Nikoskelainen EK, Savontaus ML (1991) A new mtDNA mutation associated with Leber hereditary optic neuroretinopathy. Am J Hum Genet 48:1147–1153

CAS  PubMed  PubMed Central  Google Scholar 

Jansen PH, van der Knaap MS, de Coo IF (1996) Leber’s hereditary optic neuropathy with the 11 778 mtDNA mutation and white matter disease resembling multiple sclerosis: clinical, MRI and MRS findings. J Neurol Sci 135:176–180. https://doi.org/10.1016/0022-510x(95)00287-c

Article  CAS  PubMed  Google Scholar 

Johns DR, Neufeld MJ, Park RD (1992) An ND-6 mitochondrial DNA mutation associated with Leber hereditary optic neuropathy. Biochem Biophys Res Commun 187:1551–1557. https://doi.org/10.1016/0006-291x(92)90479-5

Article  CAS  PubMed  Google Scholar 

Jurkute N, Majander A, Bowman R, Votruba M, Abbs S, Acheson J, Lenaers G, Amati-Bonneau P, Moosajee M, Arno G et al (2019) Clinical utility gene card for: inherited optic neuropathies including next-generation sequencing-based approaches. Eur J Hum Genet 27:494–502. https://doi.org/10.1038/s41431-018-0235-y

Article  CAS  PubMed  Google Scholar 

Kjer P (1959) Infantile optic atrophy with dominant mode of inheritance: a clinical and genetic study of 19 Danish families. Acta Ophthalmol Suppl 164:1–147

CAS  PubMed  Google Scholar 

Kline LB, Glaser JS (1979) Dominant optic atrophy. The clinical profile. Arch Ophthalmol 97:1680–1686. https://doi.org/10.1001/archopht.1979.01020020248013

Article  CAS  PubMed  Google Scholar 

Kohler W, Curiel J, Vanderver A (2018) Adulthood leukodystrophies. Nat Rev Neurol 14:94–105. https://doi.org/10.1038/nrneurol.2017.175

Article  CAS  PubMed  Google Scholar 

Kovacs GG, Hoftberger R, Majtenyi K, Horvath R, Barsi P, Komoly S, Lassmann H, Budka H, Jakab G (2005) Neuropathology of white matter disease in Leber’s hereditary optic neuropathy. Brain 128:35–41. https://doi.org/10.1093/brain/awh310

Article  PubMed  Google Scholar 

Lestienne P, Ponsot G (1988) Kearns-Sayre syndrome with muscle mitochondrial DNA deletion. Lancet 1:885. https://doi.org/10.1016/s0140-6736(88)91632-7

Article  CAS  PubMed  Google Scholar 

Lucchinetti C, Bruck W, Parisi J, Scheithauer B, Rodriguez M, Lassmann H (2000) Heterogeneity of multiple sclerosis lesions: implications for the pathogenesis of demyelination. Ann Neurol 47:707–717. https://doi.org/10.1002/1531-8249(200006)47:6%3c707::aid-ana3%3e3.0.co;2-q

Article  CAS  PubMed  Google Scholar 

Mackey DA, Oostra RJ, Rosenberg T, Nikoskelainen E, Bronte-Stewart J, Poulton J, Harding AE, Govan G, Bolhuis PA, Norby S (1996) Primary pathogenic mtDNA mutations in multigeneration pedigrees with Leber hereditary optic neuropathy. Am J Hum Genet 59:481–485

CAS  PubMed  PubMed Central  Google Scholar 

Macmillan C, Kirkham T, Fu K, Allison V, Andermann E, Chitayat D, Fortier D, Gans M, Hare H, Quercia N et al (1998) Pedigree analysis of French Canadian families with T14484C Leber’s hereditary optic neuropathy. Neurology 50:417–422. https://doi.org/10.1212/wnl.50.2.417

Article  CAS  PubMed  Google Scholar 

Mahad D, Ziabreva I, Lassmann H, Turnbull D (2008) Mitochondrial defects in acute multiple sclerosis lesions. Brain 131:1722–1735. https://doi.org/10.1093/brain/awn105

Article  PubMed  PubMed Central  Google Scholar 

Marucci G, Maresca A, Caporali L, Farnedi A, Betts CM, Morandi L, de Biase D, Cerasoli S, Foschini MP, Bonora E et al (2013) Oncocytic glioblastoma: a glioblastoma showing oncocytic changes and increased mitochondrial DNA copy number. Hum Pathol 44:1867–1876. https://doi.org/10.1016/j.humpath.2013.02.014

Article  CAS  PubMed  Google Scholar 

Matthews L, Enzinger C, Fazekas F, Rovira A, Ciccarelli O, Dotti MT, Filippi M, Frederiksen JL, Giorgio A, Kuker W et al (2015) MRI in Leber’s hereditary optic neuropathy: the relationship to multiple sclerosis. J Neurol Neurosurg Psych 86:537–542. https://doi.org/10.1136/jnnp-2014-308186

Article  Google Scholar 

Muller-Hocker J, Schafer S, Krebs S, Blum H, Zsurka G, Kunz WS, Prokisch H, Seibel P, Jung A (2014) Oxyphil cell metaplasia in the parathyroids is characterized by somatic mitochondrial DNA mutations in NADH dehydrogenase genes and cytochrome c oxidase activity-impairing genes. Am J Pathol 184:2922–2935. https://doi.org/10.1016/j.ajpath.2014.07.015

Article  CAS  PubMed  Google Scholar 

Ng KL, Morais C, Bernard A, Saunders N, Samaratunga H, Gobe G, Wood S (2016) A systematic review and meta-analysis of immunohistochemical biomarkers that differentiate chromophobe renal cell carcinoma from renal oncocytoma. J Clin Pathol 69:661–671. https://doi.org/10.1136/jclinpath-2015-203585

Article  CAS  PubMed  Google Scholar 

Nolan M, Barbagallo P, Turner MR, Keogh MJ, Chinnery PF, Talbot K, Ansorge O (2021) Isolated homozygous R217X OPTN mutation causes knock-out of functional C-terminal optineurin domains and associated oligodendrogliopathy-dominant ALS-TDP. J Neurol Neurosurg Psychiatry 92:1022–1024. https://doi.org/10.1136/jnnp-2020-325803

Article  PubMed  Google Scholar 

Oldfors A, Tulinius M (2003) Mitochondrial encephalomyopathies. J Neuropathol Exp Neurol 62:217–227. https://doi.org/10.1093/jnen/62.3.217

Article  CAS  PubMed  Google Scholar 

Petty RK, Harding AE, Morgan-Hughes JA (1986) The clinical features of mitochondrial myopathy. Brain 109(Pt 5):915–938. https://doi.org/10.1093/brain/109.5.915

Article  PubMed  Google Scholar 

Petzold A (2013) Intrathecal oligoclonal IgG synthesis in multiple sclerosis. J Neuroimmunol 262:1–10. https://doi.org/10.1016/j.jneuroim.2013.06.014

Article  CAS  PubMed  Google Scholar 

Pfeffer G, Burke A, Yu-Wai-Man P, Compston DA, Chinnery PF (2013) Clinical features of MS associated with Leber hereditary optic neuropathy mtDNA mutations. Neurology 81:2073–2081. https://doi.org/10.1212/01.wnl.0000437308.22603.43

Article  CAS  PubMed  PubMed Central  Google Scholar 

Rahman S, Blok RB, Dahl HH, Danks DM, Kirby DM, Chow CW, Christodoulou J, Thorburn DR (1996) Leigh syndrome: clinical features and biochemical and DNA abnormalities. Ann Neurol 39:343–351. https://doi.org/10.1002/ana.410390311

Article  CAS  PubMed  Google Scholar 

Rone MB, Cui QL, Fang J, Wang LC, Zhang J, Khan D, Bedard M, Almazan G, Ludwin SK, Jones R et al (2016) Oligodendrogliopathy in multiple sclerosis: low glycolytic metabolic rate promotes oligodendrocyte survival. J Neurosci 36:4698–4707. https://doi.org/10.1523/JNEUROSCI.4077-15.2016

Article  CAS 

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