Neurodegeneration with brain iron accumulation (NBIA) involves several genetic disorders
with markedly excessive regional brain iron stores. In addition to pantothenate kinase-associated
neurodegeneration (PKAN), caused by a mutation in the PANK2 gene, which accounts for at least one-half of (NBIA) cases, several other genetic
causes have been identified [
[1]
]. NBIA subtype, mitochondrial membrane protein associated neurodegeneration (MPAN)
is caused by mutation in the orphan gene C19orf12, which encodes a protein expressed in mitochondria, but its role has not been fully
understood [
[2]
]. The clinical symptoms associated with MPAN are similar to classical PKAN, but the
age of onset is later and expression of symptoms is milder [
[2]
].Keywords
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Article info
Publication history
Published online: March 22, 2015
Accepted:
March 12,
2015
Received in revised form:
March 10,
2015
Received:
January 9,
2015
Identification
Copyright
© 2015 Elsevier B.V. Published by Elsevier Inc. All rights reserved.
