Autosomal Dominant Spinocerebellar Ataxias and Social Cognition (SoCoSca)

University Hospital, Angers

Status

Enrolling

Conditions

Autosomal Dominant Spinocerebellar Ataxia (SCA1, 2,3,6,7,27B)

Treatments

Other: tests

Study type

Interventional

Funder types

Other

Identifiers

NCT07099651

ID-RCB 2025-A01253-46 (Other Identifier)

49RC23-0390

Details and patient eligibility

About

Spinocerebellar ataxias are a group of rare neurodegenerative diseases, clinically and genetically highly heterogeneous, with an estimated mean prevalence of 2.7 per 100,000 population. The term "spinocerebellar ataxia" or "SCA" is often used for ataxias of genetic origin of autosomal dominant transmission, which are the subject of this study. Recent studies of social cognition in patients with genetic cerebellar pathologies, and autosomal dominant spinocerebellar ataxia in particular, are still few and far between (around 15 studies), and seem to highlight impairment of basic emotion recognition and theory of mind skills. That said, data have very often been collected on very small samples of patients (sometimes in case study format). They also remain contradictory, including in the examination of the cerebellar anatomoclinical correlates of the deficits. Thus, the question arises as to whether patients with spinocerebellar ataxia also show impairments in emotion recognition and cognitive and affective theory of mind in more ecologically valid dynamic and interactive assessment situations.

Enrollment

160 estimated patients

Sex

All

Ages

18 to 100 years old

Volunteers

Accepts Healthy Volunteers

Inclusion criteria

For all participants:

Men or women aged 18 and over
At least 7 years' schooling (CEP level)
Ability to read, write and speak French
Signed informed consent to participate in the study

For patients :

- With molecularly confirmed autosomal dominant spinocerebellar ataxia (SCA1, 2, 3, 6, 7, 27B)

For controls:

- With no neurological pathology (questioning and neurological examination)

Exclusion criteria

For patients and controls:

Simultaneous participation in another protocol that may interfere with the measurement of the criteria of interest
Physical or cultural factors likely to interfere with test performance
History likely to interfere with cognition (stroke, cranioencephalic trauma, other neurodegenerative disease, epilepsy, learning disability, alcohol dependence syndrome, psychiatric disorders...)
Persons with contraindications to MRI scans
Pregnant, nursing or parturient women
Persons deprived of their liberty by judicial or administrative decision
Persons under compulsory psychiatric care
Persons subject to a legal protection measure
Persons unable to express their consent
Persons not affiliated to or not benefiting from a social security scheme (beneficiary or beneficiary entitled)