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Updated: Jun 13, 2026

Consensus Brain-derived Protein, Extraction Protocol for the Study of Human and Murine Brain Proteome Using Both 2D-DIGE and Mini 2DE Immunoblotting

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Published on: April 10, 2014

Is it ADEM, POLG, or both?

Mandy O Harris¹, Laurence E Walsh, Eyas M Hattab

¹Department of Neurology, Division of Pediatric Neurology, Indiana University School of Medicine, 575 West Dr, Indianapolis, IN 46202, USA.

Archives of Neurology

|April 14, 2010

Summary

This summary is machine-generated.

A child presented with symptoms mimicking acute disseminated encephalomyelitis (ADEM), but genetic testing revealed POLG gene mutations indicating mitochondrial disease. This case highlights the overlap between these conditions.

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Adjuvant Activity of Mycobacterium paratuberculosis in Enhancing the Immunogenicity of Autoantigens During Experimental Autoimmune Encephalomyelitis

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Published on: May 12, 2023

Area of Science:

Neurology
Genetics
Immunology

Background:

Acute disseminated encephalomyelitis (ADEM) is an immune-mediated demyelinating disease.
Mitochondrial diseases can present with diverse neurological symptoms.
Genetic mutations in polymerase gamma (POLG) are associated with mitochondrial disorders.

Observation:

A 4-year-old boy presented with ataxia and encephalopathy.
Brain biopsy suggested ADEM, but genetic analysis revealed compound heterozygous POLG mutations.
The patient experienced symptom fluctuation and ultimately succumbed to the illness.

Findings:

Magnetic resonance imaging showed demyelinating lesions.
Cerebrospinal fluid analysis indicated inflammation.
Genetic confirmation of POLG mutations pointed to an underlying mitochondrial disorder.

Implications:

Mitochondrial disease may mimic or trigger autoimmune central nervous system conditions.
POLG mutations could explain poor outcomes in apparent autoimmune neurological diseases.
This case underscores the importance of genetic testing in complex neurological presentations.