Targeted gene(s)/phenotype under study :
- Gene: ATL1
ATL1 gene variants are usually responsible for autosomal dominant spastic paraplegia type 3A (MIM #182600), or autosomal dominant hereditary sensory neuropathy (MIM #613708) with onset during childhood or adulthood. Very few cases of neonatal presentations with severe evolution that did not permit to acquire the sitting position or to walk have been described. These clinical presentations are not well-known, since its knowledge is only based on case reports.
We aim at gathering more cases to better describe this extreme end of the clinical spectrum, and possibly describe some genotype-phenotype correlations.
Coordinating clinicians /researchers:
- Prof. Laurence Faivre
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? No