Literature DB >> 31970193

Cluster headache as a manifestation of a stroke-like episode in a carrier of the MT-ND3 variant m.10158T>C.

Josef Finsterer1.   

Abstract

In a recent article Fu et al reported about a 52 years old female with a mitochondrial disorder due to the variant m.10158T>C in the mtDNA located gene MT-ND3. The study has a number of shortcomings. The study would particularly profit from providing more data about multisystem disease, from providing the current medication, the cerebro-spinal fluid findings, the detailed phenotypic presentation, and the genotype of first-degree relatives. Since the index patient had experienced recurrent seizures it is crucial to know the current and previous anti-seizure medication as it may strongly determine the outcome. Some of them are mitochondrion-toxic and particularly valproic acid may exhibit fatal side effects. The outcome may also depend on the degree of multisystem involvement why it is crucial to prospectively investigate the patient for subclinical involvement of organs not obviously affected. Additionally, the outcome of the stroke-like lesions on imaging would be interesting to see. Stroke-like lesions may completely disappear or may end up as white matter lesion, laminar cortical necrosis, focal atrophy, cyst, or as the so-called toenail sign. There is also a need of discussing more profoundly the imaging findings and their diagnostic significance and to investigate first degree relatives of the index patient clinically and genetically. Though highly interesting, the presentation of this case of a mitochondrial disorder lacks clinical and genetic data of the patient and his relatives. Outcome parameters, such as severity of disease, degree of progression, drugs, pathogenicity of the mutation, and multisystem involvement require a profound discussion. ©The Author(s) 2020. Published by Baishideng Publishing Group Inc. All rights reserved.

Entities:  

Keywords:  Heteroplasmy; Oxidative phosphorylation; Stroke-like episode; mtDNA

Year:  2020        PMID: 31970193      PMCID: PMC6962085          DOI: 10.12998/wjcc.v8.i1.242

Source DB:  PubMed          Journal:  World J Clin Cases        ISSN: 2307-8960            Impact factor:   1.337


  7 in total

1.  Complex multisystem phenotype associated with the mitochondrial DNA m.5522G>A mutation.

Authors:  Claudia Nesti; Anna Rubegni; Deborah Tolomeo; Jacopo Baldacci; Denise Cassandrini; Francesca D'Amore; Filippo M Santorelli
Journal:  Neurol Sci       Date:  2019-04-01       Impact factor: 3.307

2.  A case of cluster headache associated with mitochondrial DNA deletions.

Authors:  P Montagna; P Cortelli; B Barbiroli
Journal:  Muscle Nerve       Date:  1998-01       Impact factor: 3.217

3.  A case of cluster headache associated with mitochondrial DNA deletions.

Authors:  M Odawara; A Tamaoka; H Mizusawa; K Yamashita
Journal:  Muscle Nerve       Date:  1997-03       Impact factor: 3.217

Review 4.  Mitochondrial metabolic stroke: Phenotype and genetics of stroke-like episodes.

Authors:  Josef Finsterer
Journal:  J Neurol Sci       Date:  2019-03-23       Impact factor: 3.181

Review 5.  Genetic Counselling for Maternally Inherited Mitochondrial Disorders.

Authors:  Joanna Poulton; Josef Finsterer; Patrick Yu-Wai-Man
Journal:  Mol Diagn Ther       Date:  2017-08       Impact factor: 4.074

Review 6.  Toxicity of Antiepileptic Drugs to Mitochondria.

Authors:  Josef Finsterer
Journal:  Handb Exp Pharmacol       Date:  2017

7.  Adult-onset mitochondrial encephalopathy in association with the MT-ND3 T10158C mutation exhibits unique characteristics: A case report.

Authors:  Xiao-Li Fu; Xiang-Xue Zhou; Zhu Shi; Wei-Cheng Zheng
Journal:  World J Clin Cases       Date:  2019-05-06       Impact factor: 1.337

  7 in total

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