Targeted syndrome/gene under study:
SIGMAR1/OMIM#601978/Distal hereditary motor neuropathy, juvenile amyotrophic lateral sclerosis
Abstract
Biallelic pathogenic variants in the sigma nonopioid intracellular receptor-1 gene (SIGMAR1) have been reported as a cause of dHMN with/without additional pyramidal signs (MIM#605726, #605726). We have identified eight families so far and would like to include more patients to characterise the phenotypic spectrum and investigate the genotype-phenotype correlation. Hence, we would like to receive detailed clinical and genetic data of patients with bi-allelic SIGMAR1 variants.
Coordinating clinicians
Reza Maroofian – r.maroofian@ucl.ac.uk
Arman Cakar – a.cakar@ucl.ac.uk
Institution
The UCL Queen Square Institute of Neurology, London, UK
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: No