1,398
Views
1
CrossRef citations to date
0
Altmetric
Case Report

Case Report: A patient with spinocerebellar ataxia type 31 and sporadic Creutzfeldt-Jakob disease

, , , , , , , & show all
Pages 147-149 | Received 07 Nov 2017, Accepted 25 Jan 2018, Published online: 09 Mar 2018

References

  • Sato N, Amino T, Kobayashi K, et al. Spinocerebellar ataxia type 31 is associated with “inserted” penta-nucleotide repeats containing (TGGAA) n. Am J Hum Genet. 2009;85:544–557.
  • Atarashi R, Satoh K, Sano K, et al. Ultrasensitive human prion detection in cerebrospinal fluid by real-time quaking-induced conversion. Nat Med. 2011;17:175–178.
  • Ishige T, Sawai S, Itoga S, et al. Pentanucleotide repeat-primed PCR for genetic diagnosis of spinocerebellar ataxia type 31. J Hum Genet. 2012;57:807–808.
  • Nozaki H, Ikeuchi T, Kawakami A, et al. Clinical and genetic characterizations of 16q‐linked autosomal dominant spinocerebellar ataxia (AD‐SCA) and frequency analysis of AD‐SCA in the Japanese population. Mov Dis. 2007;22:857–862.
  • Parchi P, Giese A, Capellari S, et al. Classification of sporadic Creutzfeldt-Jakob disease based on molecular and phenotypic analysis of 300 subjects. Ann Neurol. 1999;46:224–233.
  • Krasnianski A, Meissner B, Schulz-Schaeffer W, et al. Clinical features and diagnosis of the MM2 cortical subtype of sporadic Creutzfeldt-Jakob disease. Arch Neurol. 2006;63:876–880.
  • Nozaki I, Hamaguchi T, Sanjo N, et al. Prospective 10-year surveillance of human prion diseases in Japan. Brain. 2010;133:3043–3057.
  • Satoh J-i, Yamamura T. Gene expression profile following stable expression of the cellular prion protein. Cell Mol Neurobiol. 2004;24:793–814.
  • Hellenbroich Y, Schulz-Schaeffer W, Nitschke MF, et al. Coincidence of a large SCA12 repeat allele with a case of Creutzfeld-Jacob disease. J Neurol Neurosurg Psychiat. 2004;75:937–938.
  • Ishiguro T, Sato N, Ueyama M, et al. Regulatory role of RNA chaperone TDP-43 for RNA misfolding and repeat-associated translation in SCA31. Neuron. 2017;94:108–124.

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.