Neuropsychiatry and Cognition in the Context of Spinocerebellar Ataxia Type 3/Machado-Joseph Disease (SCA3/MJD)

Status: Recruiting
Location: See location...
Intervention Type: Diagnostic Test
Study Type: Observational

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.

Participation Requirements
Sex: All
Minimum Age: 18
Healthy Volunteers: Accepts Healthy Volunteers

• Symptomatic:

• older than 18 year old;

• molecular diagnosis of SCA3/MJD;

• SARA>2.5.

• At 50% risk:

• older than 18 year old;

• have a parent with molecular diagnosis of SCA3/MJD;

• SARA<3.

• Healthy Controls

• older than 18 year old;

• no genetic relationship with a SCA3/MJD carrier.

Other Locations
Hospital de Clinicas de Porto Alegre
Porto Alegre
Contact Information
Laura B. Jardim, MD, PhD
Gabriela Bolzan, MD
Time Frame
Start Date: December 13, 2019
Estimated Completion Date: August 1, 2023
Target number of participants: 144
Molecularly diagnosed SCA3/MJD Symptomatic subjects.
Non-related Controls
Controls matched with symptomatic by age and educational level.
At 50% risk for SCA3/MJD group
The offspring of affected individuals with SARA<3. This group will be comprised of two subpopulations: pre-symptomatic individuals and related controls. The determination will be made upon molecular diagnosis to be done in a double-blind manner.
Gabriela Bolzan, Laura B. Jardim
Leads: Hospital de Clinicas de Porto Alegre

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