Objective: To find the frequency and extent of depression, autonomic disturbances, and cognitive impairment in patients with SCA12 and exploring its association with motor symptoms and CAG repeat length.

Background: SCA12 is a rare autosomal dominant ataxia caused by CAG repeat expansion in the upstream region of PPP2R2B gene. It is predominantly found in Agarwal community from India. SCA12 is characterized by action tremor, dysarthria, ataxia, hyperreflexia, and cognitive disturbances. The extent of nonmotor symptoms in SCA12 and its associated factors are rarely investigated till date.

Method: Non motor symptoms were characterized using Hamilton Depression Rating scale (HRDS), Scales for Outcomes in Parkinson’s Disease -Autonomic Dysfunction (SCOPA-AUT), Montreal Cognitive Assessment Scale (MOCA). Motor symptoms were assessed through Scales for the Assessment and Rating of ataxia (SARA), The Essential Tremor Rating Assessment Scale (TETRAS) were performed. MRI brain was performed for all 34 patients.

Results: 34 genetically confirmed (CAG repeats > 43) patients with SCA 12 were included in the study. Twenty nine out of 34 patients showed signs of moderate to severe depression. Seventeen patients showed dementia as estimated through MoCA. Urinary disturbance was present in 22 out of 34 patients. MoCA score was negatively correlated with CAG repeat length (p 0.01). HRDS was positively correlated with SARA score (p 0.009). All 34 patients presented with postural and action tremor and 20 patients showed considerable staggering of gait.

Conclusion: Nonmotor symptoms were frequently observed in SCA12. Cognitive dysfunction was more prominent in SCA12 patients with higher CAG repeat length. Extent of depression was higher in severe SCA12.

« Back to 2024 International Congress

MDS Abstracts - https://www.mdsabstracts.org/abstract/nonmotor-symptoms-in-spinocerebellar-ataxia-type-12-sca-12/