Amit Agarwal1, Harsimarpreet Kaur2, Ayush Agarwal1, Ashima Nehra2, Shivam Pandey3, Ajay Garg4, Mohammed Faruq5, Roopa Rajan1, Garima Shukla1, Vinay Goyal1, Achal Kumar Srivastava6. 1. Department of Neurology, All India Institute of Medical Sciences, New Delhi, India. 2. Division of Clinical Neuropsychology, Neurosciences Centre, All India Institute of Medical Sciences, New Delhi, India. 3. Department of Biostatistics, All India Institute of Medical Sciences, New Delhi, India. 4. Department of Neuroradiology, All India Institute of Medical Sciences, New Delhi, India. 5. Institute of Genomics and Integrative Biology, Mall Road, New Delhi, India. 6. Department of Neurology, All India Institute of Medical Sciences, New Delhi, India. Electronic address: achalsrivastava@hotmail.com.
Abstract
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.
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.