Objective: To evaluate clinical and radiological co-relates of depression in Spinocerebellar ataxia -12

Background: Spinocerebellar ataxia type 12 (SCA12), caused by a CAG repeat expansion in PPP2R2B (chromosome 5q31-33), is characterised by action tremor, cerebellar ataxia, early erectile dysfunction, restless leg syndrome and hyperreflexia. SCA 12 occurs mainly in Hindu-Aggarwal ethnic group.  Neuropsychiatric comorbidities, notably depression, remain understudied. Data from other SCA’s like SCA-1,SCA-2,SCA-3, SCA-6 has shown prevalence of depression in these patients to be around 25-30%.

Method: 5 patients of SCA 12 evaluated for depression after detailed history and clinical examination. Depression was graded using Montgomery–Åsberg Depression Rating Scale (MADRS) and ataxia using Brief ataxia rating scale (BARS). MRI findings were also co-related.

Results: We did not find any co-relation between severity of SCA-12 and  depression as those with severe disease and higher BARS score did not necessarily have more severe depression or higher MADRS scores. Neither we found any evidence that frontal atrophy on MRI was associated with   severe depression or higher MADRS scores. There was no association between disease duration and severity of depression. The youngest patient in our cohort who had disease onset at an comparatively  younger age had severe depression , so maybe younger age at onset is a predictor of higher risk of depression but it is not possible to make this co-relation on basis of  single patient. Also since this single patient had her symptoms interfere with her current job as an school-teacher and had led to her losing her job at a previous school , it is possible that symptoms interfering with job activities lead to more depressive symptoms but this seemingly logically correct reasoning will need more studies to validate it.

Conclusion: Depression occurs in SCA 12 patients but determinants of predisposition to depression and of depression severity are not yet established. More studies are needed to clarify these risk factors and associations.

Tabular records

MRI Findings

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MDS Abstracts - https://www.mdsabstracts.org/abstract/determinants-of-depression-severity-in-patients-of-spinocerebellar-ataxia-12/