Abnormal distribution of GABAA receptors in brain of duchenne muscular dystrophy patients.

ABSTRACT

INTRODUCTION: In this study we sought to (1) determine the distribution of GABAA receptors (GABAA -Rs) in the brain of Duchenne muscular dystrophy (DMD) patients; and (2) ascertain if the distribution pattern correlates with cognitive dysfunction. METHODS: Fourteen DMD patients [young adult (n = 7, 18-25 years old) and older adult (n = 7, 30-37 years old) groups] and 16 age-matched normal volunteers participated. GABAA -R distribution was assessed using 123 I-IMZ-SPECT. Neuropsychological assessments were performed using 3 different test batteries, the WAIS-III, WMS-R, and Wisconsin Card Sorting Test (WCST). RESULTS: All DMD patients showed significant decline in 123 I-IMZ uptake in the prefrontal cortex (P < 0.05). Although no differences were detected in the WAIS-III and WMS-R, the WCST scores of DMD patients (2.8 ± 1.9) were significantly lower (P < 0.01) than those of normal volunteers (5.4 ± 0.7). Both abnormalities were more pronounced in older adult patients. CONCLUSION: The findings demonstrate that DMD is accompanied by a reduction in the prefrontal cortex distribution of GABAA -Rs. Muscle Nerve 55 591-595, 2017.