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Coexistence of protease sensitive and resistant prion protein in 129VV homozygous sporadic Creutzfeldt–Jakob disease: a case report

Ana B Rodríguez-Martínez, Adolfo López de Munain, Isidro Ferrer, Juan J Zarranz, Begoña Atarés, Nuria T Villagra, Jose M Arteagoitia, Joseba M Garrido and Ramón A Juste*

Journal of Medical Case Reports 2012, 6:348  doi:10.1186/1752-1947-6-348

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Comment regarding Rodriguez-Martinez at al. Case report 2012

Pierluigi Gambetti   (2014-07-29 21:58)  Department of Pathology, National Prion Disease Pathology Surveillance Center, School of Medicine, Case Western Reserve Universi

Letter to the Editor for Rodriguez-Martinez et al J. Med. Case Reports 2012

Dear Editor,

We read with interest the recent publication by Rodriguez-Martinez et al in the J. Med Case Reports1 in which the authors report a case of prion disease that they identify as sporadic Creutzfeldt-Jakob disease associated with valine homozygosity at codon 129 (129VV). Immunoblot analysis in this case revealed the presence of two distinct species of abnormal prion protein (PrP). Proteinase K (PK)-resistant PrP (PrPres) exhibiting the characteristic electrophoretic banding profile of PrPres type 2 was observed in the cerebellum. In contrast, similar examination of several other brain regions revealed the presence of a ladder-like banding pattern similar to that described in a novel prion disease initially labeled protease-sensitive prionopathy (PSPr) and recently renamed variably protease sensitive prionopathy (VPSPr) following the study of additional cases.2-7

Rodriguez-Martinez and colleagues conclude that they report ����the first case of the coexistence of different protease-sensitive prion proteins in the same patient���� and that ��the co-occurrence of different PK-sensitivity PrP types in the same PSPr patient has to the best of our knowledge not yet been reported.�� However, we would like to recall that in our initial 2008 publication of 11 cases of VPSPr-129VV we reported the presence of a limited amount of PK-resistant PrP27-30 forming the characteristic three band pattern in three of the eleven cases.8 The PrP27-30 was mostly located in subcortical structures (Page 703-4; Figure 4C). Obviously, the co-occurrence of ladder-like and classical three band PrPres in VPSPr-129VV is not a rare or novel observation.

Nonetheless, we agree with the authors on the importance of examining several brain regions to identify rare and atypical prionopathies. This is what led us to detecting PrP 27-30 in our cases of VPSPr four years ago.

Sincerely,

Pierluigi Gambetti Wenquan Zou

References:
1. Rodriguez-Martinez AB, de Munian AL, Ferrer I, et al. Coexistence of protease sensitive and resistant prion protein in 129VV homozygous sporadic Creutzfeldt-Jakob disease: a case report. J Med Case Rep 2012, Oct 11;6(1):348. [Epub ahead of print].

2. Head MW, Knight R, Zeidler M, et al. A case of protease sensitive prionopathy in a patient in the United Kingdom. Neuropath Appl Neurobiol 2009;7.

3. Head MW, Lowrie S, Chohan G, Knight R, Scoones DJ, Ironside JW. Variably protease-sensitive prionopathy in a PRNP codon 129 heterozygous UK patient with co-existing tau, alpha synuclein and Abeta pathology. Acta Neuropathol 2010, 120:821-823.

4. Jansen C, Head MW, van Gool WA, et al. The first case of protease-sensitive prionopathy (PSPr) in The Netherlands: a patient with an unusual GSS-like clinical phenotype. J Neurosurg Psychiatry 2010, 81:1052-1055.

5. Rodriguez-Martinez AB, Garrido JM, Zarranz JJ, et al. A novel form of human disease with a protease-sensitive prion protein and heterozygosity methionine/valine at codon 129: case report. BMC Neurol 2010, 10:99.

6. Zou WQ, Puoti G, Xiao X, et al. Variably protease-sensitive prionopathy: A new sporadic disease of the prion protein. Ann Neurol 2010, 68:162-172.

7. Head MW, Bunn TJ, Bishop MT, et al. Prion protein heterogeneity in sporadic but not variant Creutzfeldt-Jakob disease: UK cases 1991-2002. Ann Neurol 2004, 55:851-859.

8. Gambetti P, Dong Z, Yuan X, et al. A novel human disease with abnormal prion protein sensitive to protease. Ann Neurol 2008, 62:697-708.

Competing interests

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