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• W853880858 abstract "Objective: To evaluate the frequency and severity of non-motor symptoms in SPG4-HSP, especially fatigue, pain, depression and excessive daytime sleepiness.Background: Mutations in the SPG4 gene are the most frequent cause of hereditary spastic paraplegia (HSP). SPG4-HSP is characterized by slowly progressive spasticity and weakness of the legs. Additional non-motor symptoms have been reported in occasional patients with SPG4-HSP, but no systematic evaluation of such manifestations has been performed yet.Design/Methods: Twenty seven patients with molecular confirmation of SPG4-HSP from 3 centers in Southern Brazil and 26 age and sex-matched healthy controls answered the Modified Fatigue Impact Scale (MFIS), Epworth Sleepiness Scale (ESS), VAS (Visual Analogic Scale) and Beck Inventory Depression (BDI). The spastic paraplegia rating scale (SPRS) was used to quantify disease severity. We used Student’s T-test to compare groups and Pearson coefficient to investigate possible correlation between clinical parameters. P values <0.05 were considered significant.Results: Mean age of patients was 48.0±13.8 years, mean SPRS score was 19.5 ± 11.6 and there were 16 men. Patients with SPG4-HSP had more severe fatigue than controls (MFIS: 31.3±14.9 vs 14.9±15.4, p<0.001). Physical and psychosocial subscores of MFIS were higher in the patient group (p<0.001), but not cognitive subscores (p=0.98). Mean VAS score was significantly higher among patients (2.6±2.08 vs 1.1±2.0, p=0.02). Depressive symptoms were more severe among patients (12.5±8.9 vs 4.3±4.0, p<0.001), but even in this group scores were not remarkable. There was no difference between groups regarding daytime sleepiness (p=0.77). Motor disability presented a correlation with fatigue (r=0.385, p=0.04) but not with pain (p=0.267).Conclusions: Fatigue and pain are frequent manifestations in SPG4-HSP. They are often severe, and at least in part, explained by the motor disability. Neurologists should actively investigate and treat these non-motor manifestations. Disclosure: I receive CAPES Dr. Saute has nothing to disclose. Dr. Moro has nothing to disclose. Dr. Martinez has nothing to disclose. Dr. De Vasconcellos has nothing to disclose. Dr. Jardim has nothing to disclose. Dr. Teive has nothing to disclose. Dr. Lopes-Cendes has nothing to disclose. Dr. D´Abreu has nothing to disclose. Dr. Franca, Jr. has nothing to disclose." @default.
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• W853880858 date "2015-04-06" @default.
• W853880858 modified "2023-10-17" @default.
• W853880858 title "Non-motor Symptoms in patients with SPG4 mutations (P7.191)" @default.
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