Diagnosis of Hereditary Spastic Paraplegias (HSP) by Identification of a Mutation in the ZFYVE26 Gene or Protein

摘要

The Invention relates to an ex vivo method of diagnosing or predicting a hereditary spastic paraplegias (HSP), in a subject, which method comprises detecting a mutation in the ZFYVE26 gene or protein (spastizin), wherein said mutation is indicative of a hereditary spastic paraplegias (HSP).