Gene/phenotype/disorder under study
Autosomal Recessive Hereditary Spastic Paraplegia Type 11 (OMIM #604360)
Abstract
Autosomal recessive hereditary spastic paraplegia type 11 (SPG11-HSP) is a relatively frequent complex form of hereditary spastic paraplegia, characterized by progressive spastic paraparesis usually combined with a wide range of additional symptoms like cognitive impairment, ataxia, peripheral neuropathy, parkinsonism, dystonia, psychiatric manifestations and seizures. Considerable clinical heterogeneity has been reported, and disease progression varies between individuals.
SPG11-HSP is caused by biallelic pathogenic variants in the SPG11 gene, which encodes spatacsin, a protein implicated in autophagic–lysosomal pathways. More than 200 pathogenic variants have been described, including recurrent and population specific mutations. Despite the growing number of identified cases, genotype – phenotype correlations remain incomplete, and the full
spectrum of neurological and neurodevelopmental involvement is not yet well defined.
The aim of this call is to collect genetically confirmed SPG11 cases from multiple centers in order to expand clinical understanding of this disorder, refine genotype – phenotype relationships and better characterize its natural history. We seek access to both genetic and clinical data, and when available, to brain MRI and neurophysiological studies in order to support comprehensive phenotypic analysis. By aggregating data across centres, we hope to more accurately delineate the variability of SPG11-related disease, identify recurrent or founder variants, and contribute to improved clinical management and future research directions.
Coordinating clinician
Ariadni Daponte – ariadnidaponte@gmail.com
Institution
Neurogenetics and Neuromuscular Department, UCL Queen Square Institute of Neurology, London
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