Hereditary spastic paraplegia

Hereditary Spastic Paraplegia (HSP) is a genetically and clinically heterogeneous disease characterized by spasticity and weakness of the lower limbs, with or without additional neurological symptoms. HSP is rare, with a prevalence of about 2-4/100,000 individuals in different populations. Although more than 70 genes and genetic loci have been implicated in HSP, many families remain genetically undiagnosed, suggesting that other genetic causes of HSP are still to be identified. HSP can be inherited in an autosomal-dominant, -recessive, or X-linked manner.

Our project on HSP is a collaborative effort, called CanHSP, which is a consortium of 7 centers across Canada to create a national database for HSP towards future clinical trials, and to perform in-depth genetic studies, including whole exome sequencing, whole genome sequencing, RNA sequencing, and copy-number variations.

RESEARCH HIGHLIGHTS:

  • Our group was the first to identify a new gene, which leads to autosomal-recessive HSP when mutated, called CAPN1.

  • Diagnosis of a family with GLUT1 deficiency syndrome, which is a treatable disorder, after this family was not diagnosed for over 2 decades.

  • We have identified a potentially novel gene that is associated with HSP - SPTAN1.

  • Identification of a syndrome that can mimic HSP, called triple A syndrome.

  • Participated in a large study that Identified UBAP1 as a novel gene that cause autosomal dominant HSP.

  • Further characterized patients with HSP due to mutations in ATP13A2.

  • Clinical characterization of HSP across Canada

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