Objective: We aimed to characterize cognitive functions of patients with pure and complicated HSP, and to determine the frequency of abnormal cognitive performances in the studied subtypes.

Background: Hereditary Spastic Paraplegias (HSP) is a clinically and genetic heterogeneous group of diseases, where little attention has been given to cognitive abnormalities.

Method: A two-center cross-sectional case-control study was performed. Cognitive assessments were performed through the following standardized tests: Mini Mental State Examination – MEEM1; Montreal Cognitive Assessment – MOCA2; Verbal fluency with phonological restriction – FAS3; Verbal categorical fluency – FAS-cat4, Rey’s Verbal Auditory Learning Test –RAVLT5 and Wechsler Intelligence Scale for Children (WISC III)6.  In order to verify if depressive symptoms could act as a confounding factor for cognitive performance, Beck Depression Inventory (BDI)7 was applied.

Results: Fifty four patients with genetically confirmed HSP diagnosis, 36 with spastic paraplegia type 4 (SPG4), 5 SPG11, 4 SPG5, 4 cerebrotendinous xanthomatosis (CTX), 3 SPG7 and 2 SPG3A, and 10 healthy, unrelated control subjects participated in the study. Most SPG4 patients presented cognitive changes not compatible with dementia, performing poorly in memory, attention and executive function. SPG5 patients scored lower in executive functions and memory, and SPG7 patients performed poorly on memory tasks, also presenting cognitive changes not compatible with dementia . All evaluated cognitive functions were altered in patients with CTX and SPG11 patients. The 2 patients with SPG3A performed within normal limits on cognitive tests. The comparative analysis amongst SPG4, SPG11 and control groups showed significant differences on cognitive performance in all tests (P <0.001 for all comparisons)(Insert table 1). The WISC-III results showed low average IQ scores in 60% (3/5) of the children with SPG4 and average IQ in the others. BDI scores did not correlate with cognitive tests performance (P> 0.2 for all comparisons).

Conclusion: Cognitive abnormalities are frequent in HSP, being more severe in complicated forms. SPG4, the most frequent and the prototype of pure HSP, present multiple cognitive abnormalities that might impact patients’ lives, decreasing families´ socioeconomic status and contributing to the overall disease burden.

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MDS Abstracts - https://www.mdsabstracts.org/abstract/are-cognitive-changes-in-hereditary-spastic-paraplegias-restricted-to-complicated-forms/