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Phenotypes, Biomarkers and Pathophysiology in Spastic Ataxias

Spastic Ataxia

The aim of this study is to determine the clinical spectrum and natural progression of Spastic Ataxias (SPAX) and related disorders in a prospective multicenter natural history study, identify digital, imaging and molecular biomarkers that can assist in diagnosis and therapy development and study the genetic etiology and molecular mechanisms of these diseases.

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Conditions de participation

  • Sexe:

    ALL

  • Âges admissibles:

    0 and up

Critères de participation

Inclusion Criteria:

* ARSACS cohort: genetic diagnosis of ARSACS and clinically manifest disease
* SPG7 cohort: genetic diagnosis of SPG7 and clinically manifest disease
* Unrelated healthy controls: no signs or history of neurological or psychiatric disease

AND

* written informed consent provided

AND

* Participants are willing and able to comply with study procedures

Exclusion Criteria:

* Missing informed consent
* For controls: evidence of a neurodegenerative disease or movement disorders; inability to give informed consent

Lieu de l'étude

Montreal Neurological Institute of McGill University, Department of Neurology and Neurosurgery and Human Genetics
Montreal Neurological Institute of McGill University, Department of Neurology and Neurosurgery and Human Genetics
Montreal,, Quebec
Canada

Contactez l'équipe d'étude

Primary Contact

Bernard Brais, MD, PhD

[email protected]
+1-514-398
Université de Sherbrooke
Université de Sherbrooke
Saguenay, Quebec
Canada

Contactez l'équipe d'étude

Primary Contact

Cynthia Gagnon, PhD

[email protected]
1-418-695-7700
Backup Contact

Isabelle Côté, M.Sc.

[email protected]
1-418-695-7700
Étude parrainée par
University Hospital Tuebingen
Participants recherchés
Plus d'informations
ID de l'étude: NCT04297891