The phenotypic and genetic spectrum of colony-stimulating factor 1 receptor gene-related leukoencephalopathy in China / 中华神经科杂志

Objective:To summarize and analyze the clinical data of Chinese patients with colony-stimulating factor 1 receptor (CSF1R)-related leukoencephalopathy, and clarify the phenotypic and genetic characteristics of Chinese patients.Methods:Medical history of patients with CSF1R-related leukoencephalopathy diagnosed from April 1, 2018 to January 31, 2021 in the department of neurology of 22 hospitals in China was collected, and scores of Mini-Mental State Examination (MMSE), Montreal Cognitive Assessment Scale (MoCA), magnetic resonance severity scale were evaluated. Group comparison was performed between male and female patients.Results:A total of 62 patients were included, and the male-female ratio was 1∶1.95. The age of onset was (40.35±8.42) years. Cognitive impairment (82.3%, 51/62) and motor symptoms (77.4%,48/62) were the most common symptoms. The MMSE and MoCA scores were 18.79±7.16 and 13.96±7.23, respectively, and the scores of two scales in male patients (22.06±5.31 and 18.08±5.60) were significantly higher than those in females (15.53±7.41 , t=2.954, P=0.006; 10.15±6.26, t=3.328 , P=0.003). The most common radiographic feature was bilateral asymmetric white matter changes (100.0%), and the magnetic resonance imaging severity scale score was 27.42±11.40, while the white matter lesion score of females (22.94±8.39) was significantly higher than that of males (17.62±8.74 , t=-2.221, P<0.05). A total of 36 CSF1R gene mutations were found in this study, among which c.2381T>C/p.I794T was the hotspot mutation that carried by 17.9% (10/56) of the probands. Conclusions:The core phenotypic characteristics of CSF1R-related leukoencephalopathy in China are progressive motor and cognitive impairment, with bilateral asymmetrical white matter changes. In addition, there exist gender differences clinically, with severer cognitive impairment and imaging changes in female patients. Thirty-six CSF1R gene mutations were found in this study, and c.2381T>C/p. I794T was the hotspot mutation.

Summary of the 30th International Symposium on Amyotrophic Lateral Sclerosis-Motor Neuron Disease / 中华神经科杂志

The 30th International Symposium on Amyotrophic Lateral Sclerosis-Motor Neuron Disease was held in Perth, Australia from December 4 to 6, 2019. This article mainly introduces the clinical research of this meeting, including epidemiology, non-motor symptoms, auxiliary examinations and biomarkers, etc., while the basic research includes genomics and genetics, protein metabolism abnormalities, neuroimmunity and inflammation, synapse pathology and preclinical treatment strategies,

Clinical and electrophysiological study of Miller-Fisher syndrome and Bickerstaff' s brainstem encephalitis / 中华神经科杂志

Objective To investigate the underlying mechanisms of Miller-Fisher syndrome (MFS) and Bickerstaff' s brainstem encephalitis (BBE) by studying their clinical and electrophysiological characteristics.Methods The clinical and electrophysiological characteristics of 13 MFS and 7 BBE cases in Peking Union Medical College Hospital between 2000 and 2011 were retrospectively analyzed.The electrophysiological parameters included sensory and motor nerve conduction,electromyography,F wave,sympathetic skin response and brainstem auditory evoked potential and blink reflex.Results MFS and BBE had similar clinical characteristics:respiratory symptoms were the most common infectious symptoms before disease onset; Ophthalmoplegia,facial palsy and bulbar symptoms were common; They both had cerebrospinal fluid albuminocytological dissociation and positive serum anti-GQ1b antibody.However,BBE had more central nervous system lesion signs clinically such as conscious disturbance,positive Babinski' s sign and central facial palsy.Electrophysiologically,MFS and BBE also had similar electrophysiological features:sensory nerve abnormality ratios were 6/13,2/7 respectively,with prominently reduced sensory nerve active potential amplitude,normal or slightly slowed sensory conduction velocity; Motor nerves abnormality ratios were 2/13,1/7 respectively,with slightly prolonged distal motor latency and normal compound muscle action potential; Electromyography abnormality ratios were 1/7,0/4 respectively; F wave frequency abnormality ratios were 3/13,5/7 respectively,and in some cases,F wave frequency would restore; Sympathetic skin response abnormality ratios were 1/2,1/3 respectively; Blink reflex abnormalityratios were 1/2,1/1 respectively,with central involvement in BBE; Brainstem auditory evoked potential abnormality ratios were 3/5,1/4 respectively,with wave Ⅰ latency or amplitude abnormality.Conclusion The similarities of clinical and electrophysiological features suggest that MFS and BBE have the same mechanism and they form a continuous spectrum with variable central nervous system and peripheral nervous system involvement.

Study of electromyography in patients with amyotrophic lateral sclerosis of different stages / 临床神经病学杂志

Objective To study the quantitative electromyography in patients with ALS of different stages and determine the sensitive parameters for early diagnosis.Methods Quantitative electromyography was performed in 371 muscles of 60 ALS patients and 275 control muscles. MUPs parameters, the presence of spontaneous activity and the recruitment order were measured. The electromyographic data were analyzed respectively and compared with the values obtained in the control group; Results There were obviously different electromyographic patterns in each stage. Six electrophysiological stages N_0-N_5 could be discerned from the early to the most advanced phase; Compared with those of the control group, the amplitude, area, duration, SI and polyphasia of MUPs all increased significantly in N_2 ( P