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Stroke-like episodes in adult mitochondrial disease

Lookup NU author(s): Dr Yi NgORCiD, Professor Grainne Gorman


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© 2023 Elsevier B.V.Stroke-like episode is a paroxysmal neurological manifestation which affects a specific group of patients with mitochondrial disease. Focal-onset seizures, encephalopathy, and visual disturbances are prominent findings associated with stroke-like episodes, with a predilection for the posterior cerebral cortex. The most common cause of stroke-like episodes is the m.3243A > G variant in MT-TL1 gene followed by recessive POLG variants. This chapter aims to review the definition of stroke-like episode and delineate the clinical phenomenology, neuroimaging and EEG findings typically seen in patients. In addition, several lines of evidence supporting neuronal hyper-excitability as the key mechanism of stroke-like episodes are discussed. The management of stroke-like episodes should focus on aggressive seizure management and treatment for concomitant complications such as intestinal pseudo-obstruction. There is no robust evidence to prove the efficacy of L-arginine for both acute and prophylactic settings. Progressive brain atrophy and dementia are the sequalae of recurrent stroke-like episode, and the underlying genotype in part predicts prognosis.

Publication metadata

Author(s): Ng YS, Gorman GS

Editor(s): Horvath R; Hirano M; Chinnery PF

Publication type: Book Chapter

Publication status: Published

Book Title: Mitochondrial Diseases

Year: 2023

Volume: 194

Pages: 65-78

Print publication date: 16/06/2023

Online publication date: 20/02/2023

Acceptance date: 02/04/2022

Series Title: Handbook of Clinical Neurology

Publisher: Elsevier B.V.

Place Published: Amsterdam


DOI: 10.1016/B978-0-12-821751-1.00005-1

PubMed id: 36813321

Library holdings: Search Newcastle University Library for this item

ISBN: 9780128217511