Cognitive impairment in spinocerebellar ataxia type 12.

INTRODUCTION

Cognitive impairment has now been recognised to be present in patients with several of spinocerebellar ataxias (SCAs). Cognitive impairment in patients with spinocerebellar ataxia type 12 has not been evaluated.

OBJECTIVE

To evaluate the cognitive impairment in patients diagnosed with spinocerebellar ataxia type 12 (SCA12).

METHODS

We conducted a cross sectional study and enrolled 30 (20 male and 10 female) genetically confirmed SCA12 patients and 30 healthy, age, gender and education matched individuals as controls. Cognitive domains were tested using a battery of validated neurocognitive tests.

RESULT

Mean age of patients was 51.6 ± 8.0 years and mean disease duration was 5.3 ± 3.0 years. Mean International Cooperative Ataxia Rating Scale (ICARS) score was 29.8 ± 12.5. SCA 12 patients scored significantly lower than controls in executive function and new learning ability. Other tested cognitive domains were also affected but did not reach statistical significance. Age, age at onset, severity of ataxia, disease duration and CAG repeat length did not correlate with cognitive impairment.

CONCLUSION

Cognitive impairment is a part of the spectrum of SCA12 and is characterized by dysfunction in executive function and new learning ability even early in the course of disease.