354
Views
14
CrossRef citations to date
0
Altmetric
Report

Pure cerebellar ataxia linked to large C9orf72 repeat expansion

, , , , , , , & show all
Pages 301-303 | Received 15 Jul 2015, Accepted 29 Sep 2015, Published online: 26 Nov 2015

References

  • Majounie E, Renton AE, Mok K, Dopper E, Walte A, Rollinson S, et al. Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study. Lancet Neurol. 2012;11:323–30.
  • Lindquist SG, Duno M, Btbayli M, Puchmann A, Braendgaard H, Mardosiene S, et al. Corticobasal and ataxia syndromes widen the spectrum of C9orf72 hexanucleotide expansion disease. Clin Genet. 2013;83:279–83.
  • Lesage S, Le Ber I, Condroyer C, Broussolle E, Gabelle A, Thobois S, et al. C9orf72 repeat expansions are a rare genetic cause of Parkinsonism. Brain. 2013;136:385–91.
  • Goldman J, Quinzii C, Dunning-Broadbent J, Waters C, Mitsumoto H, Brannagan T, et al. Multiple system atrophy and amyotrophic lateral sclerosis in family with hexanucleotide repeat expansions in C9orf72. JAMA Neurol. 2014;71:771–4.
  • Moss D, Poulter M, Beck J, Hehir J, Polke J, Campbell T, et al. C9orf72 expansions are the most common genetic cause of Huntington’s disease phenocopies. Neurology. 2014;82: 292–9.
  • Renton AE, Majounie E, Waite A, Simon-Sanchez J, Rollinson S, Gibbs R, et al. A hexanucleotide repeat expansion in C9orf72 is the cause of chromosome 9p21-linked ALS-FTD. Neuron. 2011;72:257–68.
  • Nachbauer W, Eigentler A, Boesch S. Acquired ataxias: the clinical spectrum, diagnosis and management. J Neurol. 2015;262:1385–93.
  • Al-Sarraj S, King A, Troakes C, Smith B, Maekawa S, Bodi I, et al. p62-positive, TDP-43 negative, neuronal cytoplasmic and intranuclear inclusions in the cerebellum and hippocampus define the pathology of C9orf72-linked FLTD and MND/ALS. Acta Neuropathol. 2011;122:691–702.
  • Whitwell J, Weigand S, Boeve D, Senjem M, Gunter J, DeJesus-Hernandez M, Rutherford M, et al. Neuroimaging signatures of frontotemporal dementia genetics: C9orf72, tau, progranulin and sporadics. Brain. 2012;135:794–806.
  • Suarez-Calvet M, Camacho V, Gomez-Anson B, Anton S, Vives-Gilabert Y, Dols-Icardo O, et al. Early cerebellar hypometabolism in patients with frontotemporal dementia carrying the C9orf72 expansion. Alzheimer Dis Assoc Disord. 2015;29:353–356.
  • Bannwarth S, Ait-El-Mkadem S, Chaussenot A, Genin EC, Lacas-Gervais S, Fragaki K, et al. A mitochondrial origin for frontotemporal dementia and amyotrophic lateral sclerosis through CHCHD10 involvement. Brain. 2014;137:2329–45.
  • Kobayashi H, Abe K, Matsuura T, Ikeda Y, Hitomi T, Akechi Y, et al. Expansion of intronic GGCCTG hexanucelotide repeat in NOP56 causes SCA36, a type of spinocerebellar ataxia accompanied by motor neuron involvement. Am J Hum Genet. 2011;89:121–30.
  • Andersen PM, Al Chalabi A. Clinical genetics of amyotrophic lateral sclerosis: what do we really know? Nature Review Neurol. 2011;7:603–15.

Reprints and Corporate Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

To request a reprint or corporate permissions for this article, please click on the relevant link below:

Academic Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

Obtain permissions instantly via Rightslink by clicking on the button below:

If you are unable to obtain permissions via Rightslink, please complete and submit this Permissions form. For more information, please visit our Permissions help page.