Targeted gene under study

AMFR (OMIM #603243), Spastic paraplegia 89, autosomal recessive OMIM #620379)


We recently described a new form of hereditary spastic paraplegia (Spastic paraplegia 89, autosomal recessive) caused by bi-allelic loss-of-function variants in the gene AMFR, found in 21 individuals so far (PMID: 37119330). We are interested in collecting medical data from more affected individuals, further delineating the phenotype of this new disorder. Our pre-clinical results indicate that this phenotype might be amenable to treatment, which we plan to investigate in a clinical trial in the near future. We would be interested in all patients harboring bi-allelic variants in AMFR.

Coordinating clinicians/researchers

Dr. Stefan Barakat –


Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, the Netherlands

Specific requirements beyond clinical data and genotype data sharing:

  • Re-analysis of DNA samples: No
  • Resampling of patients: No
  • Linked to a translational/basic research project: Yes