This research investigates how cognitive-affective aspects evolve during the course of SCA3/MJD. Due to COVID-19 pandemics, this study protocol was adapted for online-only consultations. Evaluations happening after March 2020 have been done by videocall with patients, and no neurological evaluation was thus performed on these patients. A scale on Activities of Daily Living was added to the online protocol to replace SARA, SCAFI and CCFS scales.
By the end of this study, the evaluated population will be composed of 144 participants: 36 ataxic SCA3/MJD carriers, 72 at 50% risk of carrying the SCA3/MJD mutation and 36 healthy controls. Ataxic subjects are invited to participate if they have an established molecular diagnosis of SCA3/MJD and have a SARA score greater than 2.5 points. At risk subjects are composed by the offspring of molecularly diagnosed SCA3/MJD subjects that have a SARA\<3. Healthy controls belonging either to families living with the disease or to the general population are invited to participate according to how well they match with ataxic subjects included in the study. Subjects are invited to participate in the study and, after constentment procedures, cognitive-affective assessments and a scale on Activities of Daily Living (ADL) are performed on a videocall. At risk subjects collect a blood sample for double bilnd determination of their carrier status. Before March 2020, all procedures were performed in person and, instead of ADL, SARA, SCAFI and CCFS were obtained.
Study Type
OBSERVATIONAL
Enrollment
144
Double-blind molecular diagnosis for determination of the presence of the mutation.
Cross-sectional Cognitive evaluation with * CCAS Scale * Trail-Making Test parts A and B * Stroop Color-Word Test
Cross-sectional Psychiatric evaluation with Hamilton-Anxiety and Hamilton-Depression rating scales.
Hospital de Clinicas de Porto Alegre
Porto Alegre, Rio Grande do Sul, Brazil
RECRUITINGCerebellar Cognitive Affective Syndrome Scale
Study the performance on the Cerebellar Cognitive Affective Syndrome Scale of SCA3/MJD symptomatic subjects when compared to matched healthy controls and of pre-symptomatic subjects when compared to familial healthy controls.
Time frame: Through study completion, an average of 1 year
Trail-Making Test Part A and B
Study the performance on the Trail-Making Test Part A and B of SCA3/MJD symptomatic subjects when compared to matched healthy controls and of pre-symptomatic subjects when compared to familial healthy controls.
Time frame: Through study completion, an average of 1 year
Stroop Color-Word Test
Study the performance on the Stroop Color-Word Test of SCA3/MJD symptomatic subjects when compared to matched healthy controls and of pre-symptomatic subjects when compared to familial healthy controls.
Time frame: Through study completion, an average of 1 year
Emotion Attribution impairment in SCA3/MJD
Study the performance of symptomatic SCA3/MJD carriers in the Reading the Mind in the Eyes Test.
Time frame: Through study completion, an average of 1 year
Emotion Attribution in different phases of the disease
Study the performance of pre-symptomatic SCA3/MJD carriers in the Reading the Mind in the Eyes Test.
Time frame: Through study completion, an average of 1 year
Hamilton Anxiety Rating Scale
Study the profile of symptomatic and pre-symptomatic SCA3/MJD carriers in the Hamilton Anxiety Rating Scale.
Time frame: Through study completion, an average of 1 year
Hamilton Depression Rating Scale
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Cross-sectional neurological evaluation with standardized clinical scales - SARA, SCAFI and CCFS.
Cross-sectional emotional attribution evaluation by means of the Reading the Mind in the Eyes Test (RMET).
Cross-sectional evaluation of Activities of Daily Living (ADLs) by means of Friedreich Ataxia Rating Scale Part II.
Study the profile of symptomatic and pre-symptomatic SCA3/MJD carriers in the Hamilton Depression Rating Scale.
Time frame: Through study completion, an average of 1 year
Scale for the Assessment and Rating of Ataxia (SARA)
Correlations between primary outcomes and SARA.
Time frame: Through study completion, an average of 1 year
Composite Cerebellar Functional Severity Score (CCFS)
Correlations between primary outcomes and CCFS.
Time frame: Through study completion, an average of 1 year
SCA Functional Index
Correlations between primary outcomes and SCAFI.
Time frame: Through study completion, an average of 1 year
Friedreich Ataxia Rating Scale part II (FARS part II)
Correlations between primary outcomes and Activities of Daily Living from FARS part II.
Time frame: Through study completion, an average of 1 year