Hereditary spastic paraplegias (HSP) are a group of genetically and phenotypically heterogeneous disorders resulting from progressive degeneration of the corticospinal tract. They may have autosomal dominant, autosomal recessive, x-linked, or… Click to show full abstract
Hereditary spastic paraplegias (HSP) are a group of genetically and phenotypically heterogeneous disorders resulting from progressive degeneration of the corticospinal tract. They may have autosomal dominant, autosomal recessive, x-linked, or mitochondrial inheritance, and the main clinical features derive from lower limb spasticity. There are now more than 80 genes or loci associated to this condition, globally identified as spastic paraplegia genes (SPG). The SPG15 subtype represents 2%–4% of the autosomal recessive inherited HSP and are associated to mutations in the ZFYVE26 gene that code for spastizin. It belongs to the group of autosomal recessive HSP with thin corpus callosum (AR HSP-TCC), which includes a diverse genetic basis covering SPG11, SPG15, SPG21, SPG32, and SPG 47. SPG15 is clinically characterized by progressive lower limbs spasticity that may be associated to a variable number of other manifestations such as cognitive impairment, retinal degeneration, motor neuropathy, dysarthria, and rarely parkinsonism, although the knowledge about its phenotypic spectrum is still limited. Here, we report a case of a juvenile-onset levodoparesponsive parkinsonism associated to SPG 15 that developed motor complications under chronic levodopa therapy.
               
Click one of the above tabs to view related content.