Hereditary spastic paraparesis 10 and CSF monoamine levels


  • Increased dopaminergic turnover and noradrenergic deficiency unrelated to obvious clinical features was identified in Swedish families with hereditary spastic paraparesis (HSP) 10 (SPG10) caused by 2 different mutations in the neuronal kinesin heavy chain gene (KIF5A).

Why this matters

  • Delineation of potential clinical correlates to changes in monoaminergic neurotransmission may lead to potential biomarkers of HSP diseases.