Characterizing a Rare Disease Through a Global Effort

Defining the clinical, molecular, and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia

In the rare disease field, the compilation of large patient cohorts is a challenge, but necessary for understanding a disease and eventually enabling clinical trials. CENTOGENE therefore happily participated in a corresponding effort that focuses on the rare neurodegenerative disorder AP4-deficiency syndrome. The first insights from this global initiative were published in Brain, one of the leading neurological journals.


  • Darius Ebrahimi-Fakhari
  • et al.