Summary
Succinate dehydrogenase (SDH), or respiratory complex II, consists of four nuclear-encoded
subunits. The chaperone protein succinate dehydrogenase assembly factor 1 (SDHAF1)
plays an essential role in the assembly of SDH, and in the incorporation of iron-sulfur
clusters into the SDHB subunit. SDHB couples the oxidation of succinate to fumarate
with the reduction of ubiquinone (coenzyme Q) to ubiquinol. Previously reported mutations
in SDHAF1 have been associated with infantile leukoencephalopathy. We report an adult
case with a homozygous variant of uncertain significance (VUS) mutation in SDHAF1,
presenting with dementia, spastic paraparesis, and cardiomyopathy, initially diagnosed
as multiple sclerosis.
Keywords
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References
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Article info
Publication history
Published online: July 03, 2021
Accepted:
June 29,
2021
Received in revised form:
June 24,
2021
Received:
March 25,
2021
Footnotes
The listed authors all contributed equally to the writing, review, and editing of the case report.
Identification
Copyright
© 2021 Elsevier B.V. All rights reserved.
