Skip to main content
Top
Published in: Metabolic Brain Disease 2/2020

01-02-2020 | Stroke | Commentary

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

Author: Josef Finsterer

Published in: Metabolic Brain Disease | Issue 2/2020

Login to get access

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.
Literature
go back to reference 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 77:1309–1312CrossRef 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 77:1309–1312CrossRef
go back to reference Finsterer J (2017) Toxicity of antiepileptic drugs to mitochondria. Handb Exp Pharmacol 240:473–488CrossRef Finsterer J (2017) Toxicity of antiepileptic drugs to mitochondria. Handb Exp Pharmacol 240:473–488CrossRef
go back to reference Finsterer J, Laccone F (2019) Autosomal dominant optic atrophy plus due to the novel OPA1 variant c.1463G>C. Metab Brain Dis 34:1023–1027CrossRef Finsterer J, Laccone F (2019) Autosomal dominant optic atrophy plus due to the novel OPA1 variant c.1463G>C. Metab Brain Dis 34:1023–1027CrossRef
go back to reference 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 46:262–269CrossRef 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 46:262–269CrossRef
go back to reference 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–e231CrossRef 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–e231CrossRef
go back to reference 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 50:498–502CrossRef 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 50:498–502CrossRef
go back to reference 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 34:1043–1048CrossRef 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 34:1043–1048CrossRef
Metadata
Title
Stroke-like episodes in OPA1 carriers require comprehensive work-up and therapeutic considerations
Author
Josef Finsterer
Publication date
01-02-2020
Publisher
Springer US
Published in
Metabolic Brain Disease / Issue 2/2020
Print ISSN: 0885-7490
Electronic ISSN: 1573-7365
DOI
https://doi.org/10.1007/s11011-019-00523-z

Other articles of this Issue 2/2020

Metabolic Brain Disease 2/2020 Go to the issue