Autosomal Dominant Spinocerebellar Ataxias and Social Cognition

Ataxies SpinoCérébelleuses Autosomiques Dominantes et Cognition Sociale - Etude SoCoSca

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.

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)