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Stroke-like episodes in OPA1 carriers require comprehensive work-up and therapeutic considerations

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Abstract

This is a letter to the Editor concerning the recently published article by Zerem et al. The paper described a 12yo female with multisystem mitochondrial disorder (MID) due to the compound heterozygous variants c.1963_1964dupAT and p.Ile382Met in OPA1 manifesting phenotypically with congenital nystagmus, developmental delay, visual impairment, gait ataxia, epilepsy, a stroke-like episode (SLE) with encephalopathy and vomiting, and hearing impairment. This interesting case could be more meaningful by providing more information about the treatment of the SLE/stroke-like lesion (SLL), about the morphological characteristics of the SLL on MRI, and the results of prospective investigations for subclinical involvement of organs so far clinically unaffected.

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References

  • Baker MR, Fisher KM, Whittaker RG, Griffiths PG, Yu-Wai-Man P, Chinnery PF (2011) Subclinical multisystem neurologic disease in “pure” OPA1 autosomal dominant optic atrophy. Neurology 77:1309–1312

    Article  CAS  Google Scholar 

  • Chen L, Liu T, Tran A, Lu X, Tomilov AA, Davies V, Cortopassi G, Chiamvimonvat N, Bers DM, Votruba M, Knowlton AA (2012) OPA1 mutation and late-onset cardiomyopathy: mitochondrial dysfunction and mtDNA instability. J Am Heart Assoc 1:e003012. https://doi.org/10.1161/JAHA.112.003012

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Finsterer J (2017) Toxicity of antiepileptic drugs to mitochondria. Handb Exp Pharmacol 240:473–488

    Article  CAS  Google Scholar 

  • Finsterer J, Laccone F (2019) Autosomal dominant optic atrophy plus due to the novel OPA1 variant c.1463G>C. Metab Brain Dis 34:1023–1027

    Article  CAS  Google Scholar 

  • Ham M, Han J, Osann K, Smith M, Kimonis V (2019) Meta-analysis of genotype-phenotype analysis of OPA1 mutations in autosomal dominant optic atrophy. Mitochondrion 46:262–269

    Article  CAS  Google Scholar 

  • Liskova P, Ulmanova O, Tesina P, Melsova H, Diblik P, Hansikova H, Tesarova M, Votruba M (2013) Novel OPA1 missense mutation in a family with optic atrophy and severe widespread neurological disorder. Acta Ophthalmol 91:e225–e231

    Article  CAS  Google Scholar 

  • Steriade C, Andrade DM, Faghfoury H, Tarnopolsky MA, Tai P (2014) Mitochondrial encephalopathy with lactic acidosis and stroke-like episodes (MELAS) may respond to adjunctive ketogenic diet. Pediatr Neurol 50:498–502

    Article  Google Scholar 

  • Zerem A, Yosovich K, Rappaport YC, Libzon S, Blumkin L, Ben-Sira L, Lev D, Lerman-Sagie T (2019) Metabolic stroke in a patient with bi-allelic OPA1 mutations. Metab Brain Dis 34:1043–1048

    Article  Google Scholar 

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  1. Krankenanstalt Rudolfstiftung, Messerli Institute, Postfach 20, 1180, Vienna, Europe, Austria

    Josef Finsterer

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  1. Josef Finsterer
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JF: design, literature search, discussion, first draft, critical comments.

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Correspondence to Josef Finsterer.

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Finsterer, J. Stroke-like episodes in OPA1 carriers require comprehensive work-up and therapeutic considerations. Metab Brain Dis 35, 253–254 (2020). https://doi.org/10.1007/s11011-019-00523-z

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  • DOI: https://doi.org/10.1007/s11011-019-00523-z

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