Are Cognitive Changes in Hereditary Spastic Paraplegias Restricted to Complicated Forms?

Frontiers in Neurology

Jonas Alex Morales Saute²  Marcondes Cavalcante França Jr.³  Maira Rozenfeld Olchik⁴  Marcia Polese-Bonato⁵  Laís Alves Jacinto-Scudeiro⁶  Carelis González-Salazar⁸  Daniela Burguêz⁹  Gustavo Dariva Machado⁹  Annelise Ayres^1,10  Marina Siebert^1,11 

[1] 0Department of Internal Medicine, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil;1Neurology Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil;Department of Neurology, School of Medical Science, Universidade Estadual de Campinas, Campinas, Brazil;Department of Surgery and Orthopedics, Faculdade de Odontologia, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil;Graduate Program in Biochemistry, Federal University of Rio Grande do Sul, Porto Alegre, Brazil;Graduate Program in Medicine: Medical Sciences, Universidade Federal Rio Grande do Sul, Porto Alegre, Brazil;Graduate program in Gastroenterology and Hepatology, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil;Graduate program in Medical Physiopathology, School of Medical Science, Universidade Estadual de Campinas, Campinas, Brazil;Medical Genetics Service, Hospital de Clínicas de Porto Alegre (HCPA), Porto Alegre, Brazil;Postgraduate Program in Health Sciences, Universidade Federal de Ciências da Saúde de Porto Alegre, Porto Alegre, Brazil;Unit of Laboratorial Research/Experimental Research Center, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil;

关键词: hereditary spastic paraplegia;    HSP;    SPG;    cognitive profile;    memory;    executive function;   

DOI  :  10.3389/fneur.2019.00508

来源: DOAJ

【 摘 要 】

Background: Little is known about the cognitive profile of Hereditary Spastic Paraplegias (HSP), where most scientific attention has been given to motor features related to corticospinal tract degeneration.Objectives: We aimed to perform a broad characterization of the cognitive functions of patients with pure and complicated HSP as well as to determine the frequency of abnormal cognitive performances in the studied subtypes.Methods: A two-center cross-sectional case-control study was performed. All individuals underwent cognitive assessment through screening tests (Mini Mental State Examination—MEEM and Montreal Cognitive Assessment—MOCA) and tests to assess specific cognitive functions (Verbal fluency with phonological restriction—FAS; Verbal categorical fluency—FAS-cat and Rey's Verbal Auditory Learning Test -RAVLT).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, with similar age, sex, and education participated in the study. SPG4 patients had worse performances in MOCA, FAS, FAS-cat, and RAVLT when compared to controls. Most SPG4 patients presented cognitive changes not compatible with dementia, performing poorly in memory, attention and executive functions. SPG5 patients scored lower in executive functions and memory, and SPG7 patients performed poorly on memory tasks. All evaluated cognitive functions were markedly altered in CTX and SPG11 patients.Conclusions: Cognitive abnormalities are frequent in HSP, being more severe in complicated forms. However, cognitive impairments of pure HSPs might impact patients' lives, decreasing families' socioeconomic status and contributing to the overall disease burden.

【 授权许可】

Unknown