Mutation analysis of the neurofilament M gene in Parkinson's disease

Rejko Krüger*, Christian Fischer, Thorsten Schulte, Karsten M. Strauss, Thomas Müller, Dirk Woitalla, Daniela Berg, Marcel Hungs, Rene Gobbele, Klaus Berger, Jörg T. Epplen, Olaf Riess, Ludger Schöls

*Corresponding author for this work

Research output: Contribution to journalArticleResearchpeer-review

24 Citations (Scopus)


Neurofilament M, a major component of Lewy bodies, represents an interesting candidate in the pathogenesis of Parkinson's disease (PD). We performed detailed mutation analyses of the NF-M gene in 322 familial and sporadic PD patients. Two polymorphisms (Ala475Thr and Gly697Arg) occurred at similar frequencies in PD patients and controls. A Pro725Gln substitution and a deletion of valine in position 829 were identified in two PD patients. These substitutions affect residues of the NF-M protein that are highly conserved among different species. None of our patients carried the Gly336Ser substitution, which has been described in familial PD. Our results argue against a major role of NF-M in PD. However, rare variants of the NF-M gene may act as susceptibility factors for PD and functional analyses of the identified variations are warranted to decipher possible mechanisms in neurodegeneration.

Original languageEnglish
Pages (from-to)125-129
Number of pages5
JournalNeuroscience Letters
Issue number2
Publication statusPublished - 13 Nov 2003
Externally publishedYes


  • Genetics
  • Lewy bodies
  • Neurodegeneration
  • Neurofilament
  • Parkinson's disease
  • Protein degradation


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