Study of sporadic, late-onset cases
Mild cognitive impairment, predominantly in executive function (such as planning, organising ability) delayed recall, abstraction (e.g. understanding concepts) and language was found to occur in this study of sporadic (no family history) late-onset cases of SPG11.
Decreased scores in the Montréal Cognitive Assessment (MoCA) suggest that clinicians should consider using this to detect mild cognitive impairment in people with HSP.
New mutations were found in each of the 4 cases of sporadic, late-onset SPG11 studied.
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 spastic paraplegias in childhood. However, there are many instances of sporadic late-onset HSP-TCC cases with a negative family history, and potential mild cognitive deficits in multiple domains may be easily neglected and inaccurately described.
Methods: In this study, we performed next generation sequencing in four sporadic late-onset patients with HSP-TCC, and combined Mini-Mental State Examination (MMSE) and Montreal Cognitive Assessment (MoCA) to evaluate cognition of the patients.
Results: By evolutionary conservation and structural modeling analysis, we have revealed 4 novel pathogenic SPG11 mutations, and firstly confirmed mild cognitive impairment (MCI) with normal MMSE scores (≥27) and decreased MoCA scores (< 26) in these SPG11 mutation-related HSP-TCC patients, predominantly presenting impairment of executive function, delayed recall, abstraction and language.
Conclusions: The results expand the mutational spectrum of SPG11-associated HSP-TCC from sporadic cases, and confirm MCI with combination of decreased MoCA and normal MMSE assessment, suggesting that clinicians should consider doing a MoCA to detect MCI in patients with HSP, particularly those with HSP-TCC.
SOURCE: BMC Neurol. 2021 Jan 11;21(1):12. doi: 10.1186/s12883-020-02040-4. PMID: 33430805
Mild cognitive impairment in novel SPG11 mutation-related sporadic hereditary spastic paraplegia with thin corpus callosum: case series
1 Department of Neurology, Tangdu Hospital, Fourth Military Medical University, Xi’an City, 710038, Shaanxi Province, China.
2 Department of Neurology, Tangdu Hospital, Fourth Military Medical University, Xi’an City, 710038, Shaanxi Province, China.
3 Department of Neurology, Tangdu Hospital, Fourth Military Medical University, Xi’an City, 710038, Shaanxi Province, China.