A nonsense mutation in CHCHD2 in a patient with Parkinson disease

Eva Koschmidder, Anne Weissbach, Norbert Brüggemann, Meike Kasten, Christine Klein, Katja Lohmann*

*Corresponding author for this work
8 Citations (Scopus)


While Parkinson disease (PD) was for many years regarded as a textbook example of a nongenetic disease, this view has dramatically changed over the past 2 decades with the identification of a number of genes, mutations in which cause monogenic PD. In recent years, the identification of disease genes was facilitated due to the advent of next-generation sequencing (NGS) resulting in an exponential increase in the number of reported disease genes. 1 These observations require independent confirmation since the number of false-positive results has likewise considerably increased. 2

Original languageEnglish
Issue number6
Pages (from-to)577-579
Number of pages3
Publication statusPublished - 09.02.2016

Research Areas and Centers

  • Academic Focus: Center for Brain, Behavior and Metabolism (CBBM)


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