Mutations in the POLG1 gene, encoding the catalytic subunit of the mitochondrial DNA polymerase γ, are responsible
for various phenotypes associated with multiple mitochondrial DNA (mtDNA) deletions.
[
[1]
] Mitochondrial recessive ataxia syndrome (MIRAS) is due to the mutations c.1399G>A (A467T) and c.2243G>C (W748S) of POLG1, and is clinically characterized by early onset ataxia, variably associated with
peripheral neuropathy, epilepsy, headache, cognitive impairment, psychiatric disturbances,
movement disorders, and ophthalmoplegia. MIRAS is considered a common cause of inherited
ataxia in Northern Europe [
[2]
]. However, in Italy and the United Kingdom a poor overall impact of POLG1 mutations in autosomal recessive cerebellar ataxias (ARCAs) was reported [
3
,
4
,
5
]. Here we describe a new case of MIRAS with features of Friedreich's ataxia-like and
co-occurrence of Brugada syndrome (BrS). The discussion focuses on differential diagnosis
of ARCAs with overlapping features as well as on a possible link between mitochondrial
dysfunction and BrS.Keywords
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References
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Article info
Publication history
Published online: January 03, 2015
Accepted:
December 29,
2014
Received in revised form:
December 6,
2014
Received:
November 1,
2014
Identification
Copyright
© 2015 Elsevier B.V. Published by Elsevier Inc. All rights reserved.
