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Letter to the Editor| Volume 352, ISSUE 1-2, P110-111, May 15, 2015

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Eye of the tiger sign in a 23year patient with mitochondrial membrane protein associated neurodegeneration

Published:March 22, 2015DOI:https://doi.org/10.1016/j.jns.2015.03.019
      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 [
      • Schneider S.A.
      • Dusek P.
      • Hardy J.
      • Westenberger A.
      • Jankovic J.
      • Bhatia K.P.
      Genetics and pathophysiology of neurodegeneration with brain iron accumulation (NBIA).
      ]. 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 [
      • Hartig M.B.
      • Iuso A.
      • Haack T.
      • Kmiec T.
      • Jurkiewicz E.
      • Heim K.
      • et al.
      Absence of an orphan mitochondrial protein, c19orf12, causes a distinct clinical subtype of neurodegeneration with brain iron accumulation.
      ]. The clinical symptoms associated with MPAN are similar to classical PKAN, but the age of onset is later and expression of symptoms is milder [
      • Hartig M.B.
      • Iuso A.
      • Haack T.
      • Kmiec T.
      • Jurkiewicz E.
      • Heim K.
      • et al.
      Absence of an orphan mitochondrial protein, c19orf12, causes a distinct clinical subtype of neurodegeneration with brain iron accumulation.
      ].

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