Mild cognitive impairment in novel SPG11 mutation-related sporadic hereditary spastic paraplegia with thin corpus callosum: case series

Abstract Background SPG11 mutation-related autosomal recessive hereditary spastic paraplegia with thin corpus callosum (HSP-TCC) is the most common cause in complicated forms of HSP, usually presenting comprehensive mental retardation on early-onset stage preceding paraplegias childhood. However, there are many instances sporadic late-onset HSP-TCC cases a negative family history, and potential mild cognitive deficits multiple domains may be easily neglected inaccurately described. Methods In this study, we performed next generation sequencing four patients HSP-TCC, combined Mini-Mental State Examination (MMSE) Montreal Cognitive Assessment (MoCA) to evaluate cognition patients. Results By evolutionary conservation structural modeling analysis, have revealed 4 novel pathogenic mutations, firstly confirmed impairment (MCI) normal MMSE scores (≥27) decreased MoCA (< 26) these patients, predominantly executive function, delayed recall, abstraction language. Conclusions The results expand mutational spectrum -associated from cases, confirm MCI combination assessment, suggesting that clinicians should consider doing detect particularly those HSP-TCC.