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Research Article

Phenotypic variability related to C9orf72 mutation in a large Sardinian kindred

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Pages 245-248 | Received 18 May 2015, Accepted 20 Sep 2015, Published online: 17 Nov 2015

References

  • DeJesus-Hernandez M, Mackenzie IR, Boeve BF, Boxer AL, Baker M, Rutherford NJ, et al. Expanded GGGGCC Hexanucleotide Repeat in Noncoding Region of C9orf72 Causes Chromosome 9p-Linked FTD and ALS. Neuron. 2011;72:245–56.
  • Renton AE, Majounie E, Waite A, Simón-Sánchez J, Rollinson S, Gibbs JR, et al. A hexanucleotide repeat expansion in C9orf72 is the cause of chromosome 9p21-linked ALS-FTD. Neuron. 2011;72:257–68.
  • Cooper-Knock J, Shaw PJ, Kirby J. The widening spectrum of C9orf72-related disease; genotype/phenotype correlations and potential modifiers of clinical phenotype. Acta Neuropathol. 2014;127:333–45.
  • Brooks BR, Miller RG, Swash M, Munsat TL, World Federation of Neurology Research Group on Motor Neuron Diseases: El Escorial revisited: revised criteria for the diagnosis of amyotrophic lateral sclerosis. Amyotroph Lateral Scler Other Motor Neuron Disord. 2000;1:293–9.
  • Rascovsky K, Hodges JR, Knopman D, Mendez MF, Kramer JH, Neuhaus J, et al. Sensitivity of revised diagnostic criteria for the behavioural variant of frontotemporal dementia. Brain. 2011;134:2456–77.
  • Sabatelli M, Conforti FL, Zollino M, Mora G, Monsurrò MR, Volanti P, et al. C9orf72 hexanucleotide repeat expansions in the Italian sporadic ALS population. Neurobiol Aging. 2012;33:1848–53.
  • Cannas A, Borghero G, Floris GL, Solla P, Chiò A, Traynor BJ, et al. The p.A382T TARDBP gene mutation in Sardinian patients affected by Parkinson's disease and other degenerative Parkinsonisms. Neurogenetics. 2013;14:161–6.
  • Park HK, Chung SJ. New perspective on Parkinsonism in frontotemporal lobar degeneration. J Mov Disord. 2013;6:1–8.
  • Siuda J, Fujioka S, Wszolek ZK. Parkinsonian syndrome in familial frontotemporal dementia. Parkinsonism Relat Disord. 2014;20:957–64.
  • Boeve BF, Boylan KB, Graff-Radford NR, DeJesus-Hernandez M, Knopman DS, Pedraza O, et al. Characterization of frontotemporal dementia and/or amyotrophic lateral sclerosis associated with the GGGGCC repeat expansion in C9orf72. Brain. 2012;135:765–83.
  • Hsiung GY, DeJesus-Hernandez M, Feldman HH, Sengdy 1P, Bouchard-Kerr P, Dwosh E, et al. Clinical and pathological features of familial frontotemporal dementia caused by C9orf72 mutation on chromosome 9p. Brain. 2012;135:709–22.
  • Simón-Sánchez J, Dopper EG, Cohn-Hokke PE, Hukema RK, Nicolaou N, Seelaar H, et al. The clinical and pathological phenotype of C9orf72 hexanucleotide repeat expansions. Brain. 2012;135:723–35.
  • Cooper-Knock J, Frolov A, Highley JR, Charlesworth G, Kirby J, Milano A, et al. C9orf72 expansions, Parkinsonism, and Parkinson’s disease: a clinicopathologic study. Neurology. 2013;81:808–11.
  • Borghero G, Pugliatti M, Marrosu F, Marrosu MG, Murru MR, Floris G, et al. Genetic architecture of ALS in Sardinia. Neurobiol Aging. 2014;35: 2882.e7–2882.e12.

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