Targeted syndrome/gene under study:

SIGMAR1/OMIM#601978/Distal hereditary motor neuropathy, juvenile amyotrophic lateral sclerosis


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 –

Arman Cakar – 


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