Advertisement

C19orf12 mutation causing mitochondrial membrane-protein Associated Neurodegeneration masquerading as spastic paraplegia

      Abstract

      Mitochondrial Membrane-protein Associated Neurodegeneration (MPAN) is a rare disease, caused by C19orf12 mutations and up to 29 different mutations have been described. We report a young woman presented with spastic paraparesis due to C19orf12 gene. MPAN presenting like Hereditary spastic paraplegia-43 is rare and the genetic mutation had been described only once in the literature.

      Keywords

      To read this article in full you will need to make a payment

      Purchase one-time access:

      Academic & Personal: 24 hour online accessCorporate R&D Professionals: 24 hour online access
      One-time access price info
      • For academic or personal research use, select 'Academic and Personal'
      • For corporate R&D use, select 'Corporate R&D Professionals'

      Subscribe:

      Subscribe to Parkinsonism & Related Disorders
      Already a print subscriber? Claim online access
      Already an online subscriber? Sign in
      Institutional Access: Sign in to ScienceDirect

      References

        • Selikhova M.
        • Fedotova E.
        • Wiethoff S.
        • et al.
        A 30-year history of MPAN case from Russia.
        Clin. Neurol. Neurosurg. 2017; 159: 111-113
        • Nagarjunakonda S.
        • Daggumati R.
        • Uppala V.
        • Gajula R.
        • Amalakanti S.
        A novel mutation in neurodegeneration with brain iron accumulation - a case report.
        Neurol. India. 2019; 67: 1341-1343
        • Meilleur K.G.
        • Traoré M.
        • Sangaré M.
        • et al.
        Hereditary spastic paraplegia and amyotrophy associated with a novel locus on chromosome 19.
        Neurogenetics. 2010; 11: 313-318
        • Landouré G.
        • Zhu P.-P.
        • Lourenço C.M.
        • et al.
        Hereditary spastic paraplegia type 43 (SPG43) is caused by mutation in C19orf12.
        Hum. Mutat. 2013; 34: 1357-1360
        • Hartig M.B.
        • Iuso A.
        • Haack T.
        • et al.
        Absence of an orphan mitochondrial protein, c19orf12, causes a distinct clinical subtype of neurodegeneration with brain iron accumulation.
        Am. J. Hum. Genet. 2011; 89: 543-550