SPG7 MRI pattern linked to mental function

Cognitive and social/emotional impairment found


A pattern has been established in MRI scans in people with SPG7 type HSP that has been linked with impairment in cognition and social functioning.


Alterations in language, verbal memory and executive function were documented along with impairment of social task and emotional functions.



Spastic paraplegia type 7 (SPG7), which represents one of the most common forms of autosomal recessive spastic paraplegia (MIM#607259), often manifests with a complicated phenotype, characterized by progressive spastic ataxia with evidence of cerebellar atrophy on brain MRI. Recent studies have documented the presence of peculiar dentate nucleus hyperintensities on T2-weighted images and frontal executive dysfunction in neuropsychological tests in SPG7 patients.

Therefore, we decided to assess whether any particular MRI pattern might be specifically associated with SPG7 mutations and possibly correlated with patients’ cognitive profiles. For this purpose, we evaluated six SPG7 patients, studying the cerebello-cortical network by MRI voxel-based morphometry and functional connectivity techniques, compared to 30 healthy control subjects. In parallel, we investigated the cognitive and social functioning of the SPG7 patients.

Our results document specific cognitive alterations in language, verbal memory, and executive function in addition to an impairment of social task and emotional functions. The MRI scans showed a diffuse symmetric reduction in the cerebellar gray matter of the right lobule V, right Crus I, and bilateral lobule VI, together with a cerebral gray matter reduction in the lingual gyrus, precuneus, thalamus, and superior frontal gyrus.

The evidence of an over-connectivity pattern between both the right and left cerebellar dentate nuclei and specific cerebral regions (the lateral occipital cortex, precuneus, left supramarginal gyrus, and left superior parietal lobule) confirms the presence of cerebello-cortical dysregulation in different networks involved in cognition and social functioning in SPG7 patients.


SOURCE: Front Neurol. 2020 Feb 25;11:82. doi: 10.3389/fneur.2020.00082. eCollection 2020. Copyright © 2020 Lupo, Olivito, Clausi, Siciliano, Riso, Bozzali, Santorelli, Silvestri and Leggio. PMID: 32161564


Cerebello-Cortical Alterations Linked to Cognitive and Social Problems in Patients With Spastic Paraplegia Type 7: A Preliminary Study


Michela Lupo 1Giusy Olivito 2 3Silvia Clausi 1 2Libera Siciliano 2Vittorio Riso 4Marco Bozzali 3 5Filippo M Santorelli 6Gabriella Silvestri 4Maria Leggio 1 2

1 Ataxia Laboratory, IRCCS Fondazione Santa Lucia, Rome, Italy.

2 Department of Psychology, Sapienza University of Rome, Rome, Italy.

3 IRCCS Fondazione Santa Lucia, Rome, Italy.

4 Department of Neurology, IRCCS Fondazione Policlinico Agostino Gemelli, Rome, Italy.

5 Clinical Imaging Science Center, Brighton and Sussex Medical School, Brighton, United Kingdom.

6 Molecular Medicine, IRCCS Fondazione Stella Maris, Pisa, Italy.

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