Cognitive impairment in Spinocerebellar ataxia type 10

Abstract

BackgroundCognitive and psychiatric dysfunction has been described in several neurodegenerative diseases but has not been systematically evaluated in spinocerebellar ataxia type 10 (SCA10).ObjectiveThe aim of the present study was to investigate the core cognitive features in a large cohort of Brazilian patients with SCA10, comparing the results against a healthy control group.MethodsTwenty-eight SCA10 and 28 healthy subjects were prospectively assessed regarding cognitive function and psychiatric disorders at the Movement Disorders Unit of the Federal University of Paraná between February 2012 and October 2014.ResultsThe SCA10 group had worse depression scores, as well as cognitive performance, when compared to healthy individuals.ConclusionOur study showed mild cognitive and mood dysfunctions in patients with SCA10, consistent with the symptoms reported in the Cerebellar Cognitive Affective Syndrome described by Schmahmann JD in 1998. The description of these findings is an important clinical phenomenon that may guide physicians in specific disease management and improve quality of life of these patients.

Quality of life in individuals with spinocerebellar ataxia type 10: a preliminary study

“…In our study, there was a trend toward a correlation between QoL and the "role-emotional" domain. Ten individuals had a final score below the average of 50 in the "role-emotional" domain, indicating a low QoL, which may have been a result of the mild mood disorder (depression) observed in individuals with SCA10 28 . The fact that the other five patients had scores of 80 in this domain may explain the lack of correlation with QoL in this sample.…”

Cognitive Dysfunction in Repeat Expansion Diseases: A Review

“…The MMSE scores of patients with SCA1, SCA3, and SCA7 were significantly lower than the controls, though not they did not reach the line of 24 (Bürk et al, 2001 ; Chirino et al, 2018 ; Tamura et al, 2018 ). The scores of patients with SCA2, SCA6, SCA8, and SCA10 were close to controls (Lilja et al, 2005 ; Fancellu et al, 2013 ; Moro and Teive, 2016 ; Tamura et al, 2017 ), which proved that despite general cognitive dysfunction being common in SCA1, SCA3, and SCA7, patients did not always meet the diagnosis criteria of dementia. Furthermore, patients with SCA12, SCA17, and DRPLA got a much lower score, reaching the borderline of 24 in the late stage of these diseases (O'Hearn et al, 2001 ; Nielsen et al, 2012 ; Sugiyama et al, 2018 ), indicating the presence of dementia in these subtypes.…”