Targeted gene under study:
WDR45 (OMIM * 300526, # 300894; ORPHA: 329284)
Abstract
WDR45-related neurodegeneration with brain iron accumulation (NBIA5) is an X-linked neurodegenerative disorder due to hemizygous or de novo heterozygous variants in WDR45.
The first phase of the disease course may involve postnatal muscular hypotonia, static global developmental delay in early childhood, and infantile spasms. The second phase may contain progressive dystonia, Parkinsonism, extrapyramidal signs, and dementia at adolescence or young adulthood. Brain MRI shows iron accumulation in the globus pallidus and substantia nigra.
Coordinating clinicians
Hormos Dafsari – hormos.dafsari@uk-koeln.de
Institution
Department of Pediatrics, University Hospital Cologne, Cologne, Germany
Specific requirements beyond clinical data and genotype data sharing:
1- Re-analysis of DNA samples: No
2- Resampling of patients: No
3- Linked to a translational/basic research project: Yes