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Mild Cognitive Impairment in novel SPG11 Mutation-Related Sporadic Hereditary Spastic Paraplegia with Thin Corpus Callosum
Wei Zhang
Tang DU Hospital, Fourth Military Medical University
Corresponding Author
ORCiD: https://orcid.org/0000-0002-5063-1551
License:
This work is licensed under a CC BY 4.0 License. Read Full License
View the published version at BMC Neurology.
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 still lots of sporadic late-onset HSP-TCC cases with 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 spastic paraplegia and thin corpus callosum (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 visuoexecutive function, delayed recall, abstraction and language correlated with prefrontal deficits.
Conclusions: The results expand the mutational spectrum of SPG11-associated HSP-TCC from sporadic cases, and confirm MCI characterized with dysfunction of prefrontal lobe in SPG11-related HSP-TCC, which should be paid more attention by neurologists.
Keywords
SPG11, Next generation sequencing, Hereditary spastic paraplegia, Mild cognitive impairment
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CURRENT STATUS: Published
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Posted 13 Dec, 2020
Editorial decision: Minor revision
On 13 Dec, 2020
Editor assigned
On 10 Nov, 2020
Submission checks complete
On 10 Nov, 2020
Editor invited
On 10 Nov, 2020
This version was not preprinted
Version 1
Posted 17 Sep, 2020
Published
On 11 Jan, 2021
No community comments so far
Editorial decision: Major revision
On 29 Oct, 2020
Review #1 received
Received 11 Oct, 2020
Review #2 received
Received 05 Oct, 2020
Reviewer #2 agreed
On 25 Sep, 2020
Reviewers invited
Invitations sent on 24 Sep, 2020
Reviewer #1 agreed
On 24 Sep, 2020
Editor assigned
On 30 Aug, 2020
Submission checks complete
On 29 Aug, 2020
Editor invited
On 29 Aug, 2020
Version (no preprint)
Posted 17 Aug, 2020
This version was not preprinted
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This preprint is under consideration at BMC Neurology. A preprint is a preliminary version of a manuscript that has not completed peer review at a journal. Research Square does not conduct peer review prior to posting preprints. The posting of a preprint on this server should not be interpreted as an endorsement of its validity or suitability for dissemination as established information or for guiding clinical practice.
Learn more about In Review
Research article
Mild Cognitive Impairment in novel SPG11 Mutation-Related Sporadic Hereditary Spastic Paraplegia with Thin Corpus Callosum
Wei Zhang
Tang DU Hospital, Fourth Military Medical University
Corresponding Author
ORCiD: https://orcid.org/0000-0002-5063-1551
Badges
Prescreen
This manuscript passed our Prescreen assessment
Complete author information
Appropriate declaration statements
Potential risks to human health
Prescreen
Peer Review Timeline
CURRENT STATUS: Published
Version (no preprint)
Posted 13 Dec, 2020
Editorial decision: Minor revision
On 13 Dec, 2020
Editor assigned
On 10 Nov, 2020
Submission checks complete
On 10 Nov, 2020
Editor invited
On 10 Nov, 2020
This version was not preprinted
Version 1
Posted 17 Sep, 2020
Published
On 11 Jan, 2021
No community comments so far
Editorial decision: Major revision
On 29 Oct, 2020
Review #1 received
Received 11 Oct, 2020
Review #2 received
Received 05 Oct, 2020
Reviewer #2 agreed
On 25 Sep, 2020
Reviewers invited
Invitations sent on 24 Sep, 2020
Reviewer #1 agreed
On 24 Sep, 2020
Editor assigned
On 30 Aug, 2020
Submission checks complete
On 29 Aug, 2020
Editor invited
On 29 Aug, 2020
Version (no preprint)
Posted 17 Aug, 2020
This version was not preprinted
Metrics
Comments: 0
PDF Downloads: ...
HTML Views: ...
License:
This work is licensed under a CC BY 4.0 License. Read Full License
View the published version at BMC Neurology.
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 still lots of sporadic late-onset HSP-TCC cases with 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 spastic paraplegia and thin corpus callosum (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 visuoexecutive function, delayed recall, abstraction and language correlated with prefrontal deficits.
Conclusions: The results expand the mutational spectrum of SPG11-associated HSP-TCC from sporadic cases, and confirm MCI characterized with dysfunction of prefrontal lobe in SPG11-related HSP-TCC, which should be paid more attention by neurologists.
Figure 1
Figure 2