Objective To explore the cognitive status of amyotrophic lateral sclerosis (ALS) patients, and to explore the involved cognitive domains, subtypes and risk factors of mild cognitive impairment in ALS ( ALS-MCI).Methods Twenty-nine cases of ALS and 58 healthy volunteers were included.The severity of the bulbar and spinal functions of the patients was evaluated by the Improved Norris Scale.According to the Diagnostic and Statistical Manual of Mental Disorders 4th Edition-Revised( DSM-Ⅳ-R) criteria of dementia, ALS cases were classified as demented and non-demented.For non-demented ALS cases, the common cognitive batteries evaluating mental state, verbal memory, executive, attentional and visuospatial abilities were performed.Hamilton Anxiety Scale ( HAMA) and Hamilton Depression Scale (HAMD) were evaluated too.They were further classified into ALS-cognitively normal (ALS-CogNL) and ALS-MCI groups according to Petersen criteria of MCI.Risk factors possibly correlated with ALS-MCI were analyzed by comparing the differences in age, age of onset, duration of the disease, sites of onset, symptoms of bulbar and limb function between ALS-CogNL and ALS-MCI groups.Results Among 29 ALS cases, 14 (48.3% ) cases with cognitively normal( ALS-CogNL), 15 cases (51.7% ) with ALS-MCI,and none with dementia were identified.Among 15 ALS-MCI cases, 12 cases with executive dysfunction, 8 cases with memory deficits,9 cases with attention impairment and none with visuospatial impairment were found.ALSMCI cases could be further classified into three subtypes; 1 case with amnestic MCI (aMCI) ,6 cases with single domain non-memory MCI ( sdMCI), and 8 cases with multiple domains slightly impaired MCI (mdMCI).Between ALS-MCI and ALS-CogNL groups, there were significant differences (t = -2.435,- 2.576, both P ＜ 0.05) in education ((8.7 ± 2.8) years vs (11.3 ± 3.0) years) and Improved Norrisscale (bulbar score: (28.4 ± 7.7) scores vs ( 34.0 ± 3.4) scores) , however, no significant differences in sex, age, age of onset, duration,site of onset,HAMA or HAMD scores,and Improved Norris scale( spinal score) were found.Conclusions Cognitive deficits commonly exist in ALS patients.For the involved domains, executive dysfunction is the most common, deficits of attention and memory are also common, and deficit in visuospatial function is not found.The most common subtype of ALS-MCI is mdMCI.Severe bulbar symptoms and lower education may be the risk factors of ALS-MCI.

Objective To analyze the clinical features of 35 cases of Kennedy's disease and the correlation be?tween clinical features and CAG repeat size to strengthen the understanding of KD and to avoid misdiagnosis and delayed diagnosis.Methods Clinical data, including clinical signs and symptoms ,serum lipid, serum sex hormone level, electro?myography, the number of CAGs and (amyotrophic lateral sclerosis muscular atrophy,ALS) rating scale were collected from 35 patients genetically diagnosed of Kennedy disease and proceed system analysis. Results Patients with KD were adult onset with the average age of (40.77 ± 8.57) years and the average confirmed course were (8.32 ± 4.17) years. Forty-two point nine percent of the patients had family history. Clinical features included medulla oblongata and spinal muscular atrophy and weakness, limbs tremor, perioral muscles twitch and endocrine function and metabolic disorders in some cases. Creatine kinase, triglyceride, low density lipoprotein, follicle estrogen and prolactin were significantly in?creased compared to healthy adults (P:0.000,0.018,0.000,0.000,0.003). The number of CAG repeat was negatively correlated with the onset age (r=-0.549, P=0.001) but not associated with the illness severity (ALS rating scale) (r=0.001, P=0.998). ALS score was negatively correlated with course of disease(r=-0.540, P=0.001).Conclusions Chinese KD pa? tients share similar clinical phenotypes with those of other races but exhibit slightly different clinical characteristics. The length of the CAG repeat influences age at onset but not the severity of disease. Severity of disease is related to the course of disease.

Objective To describe the clinical features, differential diagnosis and therapeutic method of Madras motor neuron disease (MMND) to improve the understanding of MMND. Methods We retrospectively summarized the clinical data of 3 MMND patients. and conducted the related literature review to compare the similarities and differences on clinical features between our cases and foreign MMND patients. Results Patients in the present study were adult-on?set without definite family history. The main manifestations were multiple lower cranial nerve palsies along with weakness and wasting of proximal limbs. Bifacial palsy and dysarthria were most presented in patients, while definite hearing im?pairment was rarely seen. Two patients had fasciculation and atrophy in tongue and one presented with dysphagia. Weak?ness and atrophy were more frequently presented in upper extremities than in lower limbs. All patients had signs of upper motor neuron damage. The level of creatine kinase (CK) moderately increased in one case. Electromyography (EMG) de?tected a widespread neuronal damage in all patients. MMND should be differentiated from Amyotrophic Lateral Sclerosis, Kennedy Disease and Brown–Vialetto–van Laere Syndrome. Intravenous immunoglobulin therapy showed effective in some cases to some extent. Compare to foreign MMND patients, bifacial weakness at onset was more frequently presented in our patients, but hearing impairment was absent. Conclusion The clinical features of MMND include weakness and at?rophy of limbs, involvement of facial and bulbar muscles, pyramidal dysfunction and hearing impairment. Some clinical manifestations of our patients are different from foreign MMND patient.

Objective To analyze the correlative factors of hypopituitarism in patients with intracranial non-sellar tumors.Methods Eighty-three patients with intracranial non-sellar tumors,admitted to our hospital from May 2014 to April 2015,were included in our study;their clinical data were retrospectively analyzed.The status of pituitary function was assessed according to the level of preoperative serum hormone.Univariate and multivariate Logistic regression analyses were employed to analyze the correlations of preoperative hypopituitarism with age,gender,hypertension,epilepsy history,course of disease,mass effect of tumor,tumor location,intracranial pressure (ICP),and composition of cerebrospinal fluid.Results Before surgery,30 showed hypopituitarism,accounting for 36.14％:23 had deficiency in one pituitary axe and 7 had multi-axial deficiency.Univariate analysis showed that high ICP (ICP＞200 mmH2O),acute or sub-acute course (≤ 3 months) and presence of mass effect by non-sellar brain tumor were the risk factors of hypopituitarism (P＜0.05).Multivariate Logistic regression analysis revealed that intracranial mass effect in patients with non-sellar brain tumor was an independent risk factor (OR=3.197,95％CI=1.085-9.423,P=0.035).Conclusion Hypopituitarism has high morbidity in patients with non-sellar brain tumor;intracranial mass effect is an independent risk factor for hypopituitarism.

Objective:To establish the reference values of stimulation single fiber electromyography (SFEMG) in orbicularis oculi, and to explore its sensitivity in repetitive nerve stimulation (RNS) negative ocular myasthenia gravis (OMG) patients, and the relationship between jitter and various clinical parameters.Methods:Thirty-two healthy volunteers were included to establish the reference value of normal controls from January 2019 to December 2019. From December 2019 to January 2023, 36 OMG patients with negative RNS were collected. Quantitative MG score (QMGS) was performed, neostigmine test and antibody titers as well as thymus CT results were recorded. One side of the orbicularis oculi muscle was tested with a disposable concentric needle electrode in stimulation SFEMG, and the mean consecutive difference (MCD) value was calculated, which was compared with the average MCD value and upper limit of individual values in normal controls to evaluate whether the jitter was abnormal. Spearman correlation analysis of abnormal mean MCD values with QMGS and antibody titer was conducted.Results:Among the 32 healthy volunteers, there were 13 males and 19 females, the age was (46.8 ±18.7) years, and the MCD was (19.0 ±4.4) μs. The upper limit of the reference value was 27.7 μs for average MCD, and 37.4 μs for 10% individual values. Among 36 OMG patients negative at RNS tests, 20 were male and 16 were female, with a age of (37.2 ±17.0) years. The MCD was (29.9 ±14.7) μs, and Jitter was abnormal in 29 patients (81%). Among them, 20 (20/25) patients were antibody positive, 6 (6/26) patients had thymic hyperplasia, and 7 (7/26) patients had thymoma. The QMGS was 3(2, 4). There were 7 patients (19%) with normal jitter, whose QMGS was 3(2, 4). Among the patients with normal Jitter, 5 (5/5) patients were antibody positive, 2 (2/6) patients had thymic hyperplasia. There was no statistically significant difference in clinical indicators between the two groups of patients with abnormal or normal jitter. There was no significant correlation in antibody titer or QMGS with abnormal mean MCD value. Conclusions:The upper limit of the mean MCD value in the normal controls is 27.7 μs. The upper limit of a single value is 37.4 μs. Its sensitivity for OMG patients with RNS negative is 81%, and the abnormal mean MCD value does not show a significant correlation with various clinical indicators. Abnormal jitter indicates dysfunction of neuromuscular junction transmission, which is an important neuroelectrophysiological indicator for MG patients and is suitable for RNS negative patients. Orbicularis oculi muscle stimulation SFEMG provides a reliable and sensitive electrophysiological means for functional evaluation of neuromuscular junction.

Objective To investigate the loss of motor unit and it's influencing factors in the lower motor neurons after middle cerebral artery infarction. Method Forty patients with first onset and unilateral middle cerebral artery infarction were divided into cortical-basal ganglia(26)and basal ganglia(14)groups and 10 healthy controls were served as control group.All included patients were scored by National Institute of Health stroke scale(NIHSS),modified Rankin scale (mRS), Fugl-Meyer Assessment (FMA) at 48 hours of admission. Nerve conduction study on the limb and motor unit number estimation (MUNE) on abductor pollicis brevis were performed at 2-4 weeks after onset, and the data of single motor action potential (SMUAP) were collected. SPSS 20.0 software was used to statistical analysis. Result The MUNE on were significantly lower and the amplitude and area of SMUAP were significantly increased in ipsilateral than contralateral sides (cortical-basal ganglia group:95.85±26.82 vs. 143.65±38.86, P<0.001; basal ganglia group: 126.71± 44.13 vs. 157.36±56.72, P=0.001). The affected MUNE was significantly decreased in the cortex-basal ganglia than in basal ganglia groups (95.85±26.82 vs.161.40±48.90,P=0.027). The MUNE was negatively correlated with NIHSS score (r=-0.362,P=0.022)and mRS score(r=-0.339,P=0.032).NIHSS score(β=-1.603,P=0.032,95%CI:-3.064~-0.142)and mRS score(OR=2.885,P=0.025,95%CI:1.139~7.158)on admission could predict the loss of MUNE on the affected side. Conclusion This study reveals the loss of motor unit and the compensation of remained motor unit on the affected side after middle cerebral artery infarction,NIHSS score and mRS score on admission may predict the loss of MUNE after stroke.