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Brain metabolic signatures in patients with genetic and nongenetic amyotrophic lateral sclerosis |
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| Authors: | Pan Liu Yongxiang Tang Wanzhen Li Zhen Liu Ming Zhou Jian Li Yanchun Yuan Liangjuan Fang Jifeng Guo Lu Shen Hong Jiang Beisha Tang Shuo Hu Junling Wang |
| Affiliation: | 1. Department of Neurology, Xiangya Hospital, Central South University, Changsha, China Department of Neurology, The Central Hospital of Shaoyang, Shaoyang, China;2. Department of Neurology, The Central Hospital of Shaoyang, Shaoyang, China;3. Department of Neurology, Xiangya Hospital, Central South University, Changsha, China;4. Department of Nuclear Medicine, Xiangya Hospital, Central South University, Changsha, China;5. Department of Neurology, Xiangya Hospital, Central South University, Changsha, China National Clinical Research Center for Geriatric Diseases, Xiangya Hospital, Central South University, Changsha, China Key Laboratory of Hunan Province in Neurodegenerative Disorders, Central South University, Changsha, China Center for Medical Genetics, School of Life Sciences, Central South University, Changsha, China Engineering Research Center of Hunan Province in Cognitive Impairment Disorders, Central South University, Changsha, China Hunan International Scientific and Technological Cooperation Base of Neurodegenerative and Neurogenetic Diseases, Changsha, China |
| Abstract: | AimsTo study the brain metabolic signature in Chinese amyotrophic lateral sclerosis (ALS) patients and compare the difference in brain metabolic patterns between ALS with and without genetic variants.MethodsWe included 146 patients with ALS and 128 healthy controls (HCs). All patients with ALS underwent genetic testing to screen for ALS related genetic variants and were then divided into genetic (n = 22) and nongenetic ALS (n = 93) subgroups. All participants underwent brain 18F-FDG-PET scans. Group comparisons were performed using the two-sample t-test model of SPM12.ResultsWe identified a large of hypometabolic clusters in ALS patients as compared with HCs, especially in the bilateral basal ganglia, midbrain, and cerebellum. Moreover, hypometabolism in the bilateral temporal lobe, precentral gyrus and hypermetabolism in the left anterior cingulate, occipital lobe, and bilateral frontal lobe were also found in ALS patients as compared with HCs. Compared with nongenetic ALS patients, genetic ALS patients showed hypometabolism in the right postcentral gyrus, precuneus, and middle occipital gyrus. The incidence of sensory disturbance in patients with genetic ALS was higher than that in patients with nongenetic ALS (5 of 22 [22.72%] vs. 7 of 93 [7.52%], p = 0.036).ConclusionsOur investigation provided unprecedented evidence of relative hypometabolism in the midbrain and cerebellum in ALS patients. Genetic ALS patients showed a specific signature of brain metabolism and a higher incidence of sensory disturbance, indicating that genetic factors may be an underlying cause affecting the brain metabolism and increasing the risk of sensory disturbance in ALS. |
| Keywords: | 18F-FDG-PET amyotrophic lateral sclerosis brain metabolism genetic whole exome sequencing |