Advertisement
Letter to the Editor| Volume 378, P49-51, July 15, 2017

C9ORF72 and parkinsonism: Weak link, innocent bystander, or central player in neurodegeneration?

Published:April 17, 2017DOI:https://doi.org/10.1016/j.jns.2017.04.027

      Highlights

      • C9ORF72-associated diseases may vary from ALS-FTD complex to movement disorders.
      • We describe an atypical DOPA-responsive parkinsonism carrying C9orf72 expansion.
      • Penetrance, genotype-phenotype correlations and DOPA-responsiveness are discussed.

      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 Journal of the Neurological Sciences
      Already a print subscriber? Claim online access
      Already an online subscriber? Sign in
      Institutional Access: Sign in to ScienceDirect

      References

        • Renton A.E.
        • Majounie E.
        • Waite A.
        • Simón-Sánchez J.
        • Rollinson S.
        • Gibbs J.R.
        • et al.
        A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD.
        Neuron. 2011; 72: 257-268
        • Wilke C.
        • Pomper J.K.
        • Biskup S.
        • Puskás C.
        • Berg D.
        • Synofzik M.
        Atypical parkinsonism in C9orf72 expansions: a case report and systematic review of 45 cases from the literature.
        J. Neurol. 2016; 263: 558-574
        • Origone P.
        • Verdiani S.
        • Ciotti P.
        • Gulli R.
        • Bellone E.
        • Marchese R.
        • et al.
        Enlarging the clinical spectrum associated with C9orf 72 repeat expansions: findings in an Italian cohort of patients with parkinsonian syndromes and relevance for genetic counselling.
        Amyotroph. Lateral Scler. Frontotemporal Degener. 2013; 14: 479-480
        • Chiò A.
        • Calvo A.
        • Mazzini L.
        • Cantello R.
        • Mora G.
        • Moglia C.
        • et al.
        Extensive genetics of ALS: a population-based study in Italy.
        Neurology. 2012; 79: 1983-1989
        • Origone P.
        • Verdiani S.
        • Bandettini Di Poggio M.
        • Zuccarino R.
        • Vignolo M.
        • Caponnetto C.
        • et al.
        A novel Arg147Trp MATR3 missense mutation in a slowly progressive ALS Italian patient.
        Amyotroph. Lateral Scler. Frontotemporal Degener. 2015; 16: 530-531
        • Abramzon Y.
        • Johnson J.O.
        • Scholz S.W.
        • Taylor J.P.
        • Brunetti M.
        • Calvo A.
        • et al.
        Valosin-containing protein (VCP) mutations in sporadic amyotrophic lateral sclerosis.
        Neurobiol. Aging. 2012; 33 (e1-2231.e6)
        • Floris G.
        • Borghero G.
        • Di Stefano F.
        • Melis R.
        • et al.
        Phenotypic variability related to C9orf72 mutation in a large Sardinian kindred.
        Amyotroph. Lateral Scler. Frontotemporal Degener. 2016; 17: 245-248
        • Schottlaender L.V.
        • Polke J.M.
        • Ling H.
        • MacDoanld N.D.
        • Tucci A.
        • Nanji T.
        • et al.
        Analysis of C9orf72 repeat expansions in a large series of clinically and pathologically diagnosed cases with atypical parkinsonism.
        Neurobiol. Aging. 2015; 36: e1-e6
        • Cannas A.
        • Solla P.
        • Borghero G.
        • Floris G.L.
        • Chio A.
        • Mascia M.M.
        • et al.
        C9ORF72 intermediate repeat expansion in patients affected by atypical parkinsonian syndromes or Parkinson's disease complicated by psychosis or dementia in a Sardinian population.
        J. Neurol. 2015; 262: 2498-2503
        • Cooper-Knock J.
        • Frolov A.
        • Highley J.R.
        • Charlesworth G.
        • Kirby J.
        • Milano A.
        • et al.
        C9ORF72 expansions, parkinsonism, and Parkinson disease: a clinicopathologic study.
        Neurology. 2013; 81: 808-811
        • Beck J.
        • Poulter M.
        • Hensman D.
        • Rohrer J.D.
        • Mahoney C.J.
        • Adamson G.
        • et al.
        Large C9orf72 hexanucleotide repeat expansions are seen in multiple neurodegenerative syndromes and are more frequent than expected in the UK population.
        Am. J. Hum. Genet. 2013; 92: 345-353
        • Byrne S.
        • Heverin M.
        • Elamin M.
        • Walsh C.
        • Hardiman O.
        Intermediate repeat expansion length in C9orf72 may be pathological in amyotrophic lateral sclerosis.
        Amyotroph. Lateral Scler. Frontotemporal Degener. 2014; 15: 148-150