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

Introduction: In this study we sought to: (1) determine the distribution of GABA receptors (GABA -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. GABA -R distribution was assessed using 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 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 GABA -Rs. Muscle Nerve 55: 591-595, 2017.