Targeted gene under study
AMFR (OMIM #603243), Spastic paraplegia 89, autosomal recessive OMIM #620379)
Abstract
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 – t.barakat@erasmusmc.nl
Institution
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