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Mitochondrial Strokes: Diagnostic Challenges and Chameleons
Chiara Pizzamiglio1, Enrico Bugiardini1, William L Macken1
1Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London WC1N 3BG, UK.
Abstract:
Mitochondrial stroke-like episodes (SLEs) are a hallmark of mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS). They should be suspected in anyone with an acute/subacute onset of focal neurological symptoms at any age and are usually driven by seizures. Suggestive features of an underlying mitochondrial pathology include evolving MRI lesions, often originating within the posterior brain regions, the presence of multisystemic involvement, including diabetes, deafness, or cardiomyopathy, and a positive family history. The diagnosis of MELAS has important implications for those affected and their relatives, given it enables early initiation of appropriate treatment and genetic counselling. However, the diagnosis is frequently challenging, particularly during the acute phase of an event. We describe four cases of mitochondrial strokes to highlight the considerable overlap that exists with other neurological disorders, including viral and autoimmune encephalitis, ischemic stroke, and central nervous system (CNS) vasculitis, and discuss the clinical, laboratory, and imaging features that can help distinguish MELAS from these differential diagnoses.
Insights
Mitochondrial stroke-like episodes (SLEs), characteristic of MELAS, present with neurological symptoms and evolving MRI lesions. Distinguishing MELAS from other neurological disorders is crucial for timely treatment and genetic counseling.
Area of Science:
- Neurology
- Genetics
- Neuroimaging
Background:
- Mitochondrial stroke-like episodes (SLEs) are a key feature of mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS).
- Diagnosis is challenging, especially during acute events, despite implications for treatment and genetic counseling.
- SLEs can mimic other neurological conditions like encephalitis and vasculitis.
Purpose of the Study:
- To highlight the diagnostic challenges of MELAS.
- To discuss clinical, laboratory, and imaging features aiding MELAS differentiation.
- To present cases illustrating overlap with other neurological disorders.
Main Methods:
- Case series of four patients with mitochondrial strokes.
- Review of clinical presentations, neuroimaging (MRI), and laboratory findings.
- Comparative analysis with differential diagnoses including viral/autoimmune encephalitis, ischemic stroke, and CNS vasculitis.
Main Results:
- Mitochondrial SLEs exhibit evolving MRI lesions, often in posterior brain regions.
- Multisystemic involvement (diabetes, deafness, cardiomyopathy) and family history are suggestive.
- Significant overlap exists between MELAS and other neurological disorders, complicating diagnosis.
Conclusions:
- Early suspicion of MELAS is vital in patients with focal neurological symptoms and suggestive features.
- Differentiating MELAS from mimics requires careful evaluation of clinical, laboratory, and imaging data.
- Accurate diagnosis enables appropriate management and genetic counseling for MELAS patients and families.
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