Syringomyelia: A New Phenotype of SPG11 -Related Hereditary Spastic Paraplegia?
Ga Hye KimTaeyoung SongJaewoong LeeDae-Hyun JangPublished in: Brain & NeuroRehabilitation (2023)
Hereditary spastic paraplegia (HSP) refers to a group of neurodegenerative disorders affecting motor neurons in the central nervous system. HSP type 11 is the most frequent subtype of autosomal recessive HSPs. Caused by pathogenic variants in SPG11 , HSP type 11 has a heterogeneous clinical presentation, including various degrees of cognitive dysfunction, spasticity and weakness predominantly in the lower extremities among other features. An 8-year-old boy visited our rehabilitation clinic with a chief complaint of intellectual impairment. Motor weakness was not apparent, but he exhibited a mild limping gait with physical signs of upper motor neuron involvement. Next generation sequencing revealed biallelic pathogenic variants, c.2163dupT and c.5866+1G>A in SPG11 , inherited biparentally which was confirmed by Sanger sequencing. Brain imaging study showed thinning of corpus callosum, consistent with previous reports, however whole spine imaging study revealed extensive syringomyelia in his spinal cord, a rare finding in HSP type 11. Further studies are needed to determine whether this finding is a true phenotype associated with HSP type 11.
Keyphrases
- heat shock protein
- heat shock
- spinal cord
- heat stress
- cerebral palsy
- copy number
- high resolution
- spinal cord injury
- single cell
- botulinum toxin
- primary care
- intellectual disability
- physical activity
- mental health
- gene expression
- emergency department
- neuropathic pain
- resting state
- computed tomography
- autism spectrum disorder
- photodynamic therapy
- brain injury
- mass spectrometry
- functional connectivity
- case control
- genome wide