Skip to main content


Log in

Glucocerebrosidase mutations p.L444P and p.N370S are not associated with multisystem atrophy, progressive supranuclear palsy and corticobasal degeneration in Polish patients

  • Letter to the editors
  • Published:
Journal of Neurology Aims and scope Submit manuscript

This is a preview of subscription content, log in via an institution to check access.

Access this article

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.


  1. Aharon-Peretz J, Rosenbaum H, Gershoni-Baruch R (2004) Mutations in glucocerebrosidase gene and Parkinson’s disease in Ashkenazi Jews. N Engl J Med 351:1972–1977. doi:10.1056/NEJMoa033277

    Article  PubMed  CAS  Google Scholar 

  2. Mata IF, Samii A, Achneer SH, Roberts JW, Griffith A, Leis BC, Schellenberg GD, Sidransky E, Bird TD, Leverenz JB et al (2008) Glucocerebrosidase gene mutations: a risk factor for Lewy body disorders. Arch Neurol 65:379–382. doi:10.1001/archneurol.2007.68

    Article  PubMed  Google Scholar 

  3. Bras J, Paisan-Ruiz C, Guerreiro R, Ribeiro MH, Morgadinho A, Januario C, Sidransky E, Oliveira C, Singelton A (2007) Complete screening for glucocerebrosidase mutations in Parkinson’s disease patients from Portugal. Neurobiol Aging. doi:10.1016/neurobiolaging.2007.11.016

  4. Bras J, Singleton A, Cookson MR, Hardy J (2008) Emerging pathways is genetic Parkinson’s disease: potential role of ceramide metabolism in Lewy body disease. FEBS J 275:5767–5773. doi:10.1111/j.1742-4658.2008.06709.x

    Article  PubMed  CAS  Google Scholar 

  5. Williams DR, Lees AJ (2009) Progressive supranuclear palsy: clinicopathological concepts and diagnostic challenges. Lancet Neurol 3:270–279. doi:10.1016/S1474-4422(09)70042-0

    Article  Google Scholar 

  6. Tayebi N, Walker J, Stubblefield B, Orvisky E, LaMarca ME, Wong K, Rosenbaum H, Schiffmann R, Bembi B, Sidransky E (2003) Gaucher disease with parkinsonian manifestations: does glucocerebrosidase deficiency contribute to a vulnerability to parkinsonism? Mol Genet Metab 79:104–109. doi:10.1016/S1096-7192(03)00071-4

    Article  PubMed  CAS  Google Scholar 

  7. Gutti U, Fung H-C, Hruska KS, LaMarca ME, Chen C-M, Wu Y-R, Sidransky E (2008) The need for appropriate genotyping strategies for glucocerebrosidase mutations in cohort with Parkinson’s disease. Arch Neurol 65(6):850–851. doi:10.1001/archneur.65.6.850

    Article  PubMed  Google Scholar 

  8. Goker-Alpan O, Lopez G, Vithayathil J, Davis J, Hallett M, Sidransky E (2008) The spectrum of parkinsonian manifestations associated with glucocerebrosidase mutations. Arch Neurol 65(10):1353–1357. doi:10.1001/archneur.65.10.1353

    Article  PubMed  Google Scholar 

  9. Segarane B, Li A, Paudel R, Scholz S, Neumann J, Lees A, Revesz T, Hardy J, Mathias CJ, Wood NW, Holton J, Houlden H (2009) Glucocerebrosidase mutations in 108 neuropathologically confirmed cases of multiple system atrophy. Neurology 72:1185–1186. doi:10.1212/01.wnl.0000345356.40399.eb

    Article  PubMed  CAS  Google Scholar 

  10. Abidhatia RM, Hatcher JF (2008) Altered lipid metabolism in brain injury and disorders. Subcell Biochem 49:241–268. doi:10.1007/978-1-4020-8831-5_9

    Article  Google Scholar 

Download references


This work was supported by the Polish Ministry of Science and Higher Education, Grant # N N402 4404 33.

Conflict of interest statement


Author information

Authors and Affiliations


Corresponding author

Correspondence to Zygmunt Jamrozik.

Rights and permissions

Reprints and permissions

About this article

Cite this article

Jamrozik, Z., Lugowska, A., Slawek, J. et al. Glucocerebrosidase mutations p.L444P and p.N370S are not associated with multisystem atrophy, progressive supranuclear palsy and corticobasal degeneration in Polish patients. J Neurol 257, 459–460 (2010).

Download citation

  • Received:

  • Revised:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: