Reading the mind in the eyes in patients with idiopathic REM sleep behavior disorder.

OBJECTIVES: Idiopathic rapid eye movement (REM) sleep behavior disorder (iRBD) is characterized by vocalizations, jerks, and motor behaviors during REM sleep, often associated with REM-related dream content, which is considered a prodromal stage of α-synucleinopathy. The results of the Reading the Mind in the Eyes (RME) reflecting affective Theory of Mind (ToM) are inconsistent in α-synucleinopathy. The present study tried to investigate the RME in patients with iRBD. METHODS: A total of 35 patients with iRBD and 26 healthy controls were included in the study. All participants were administered the RME and the cognitive assessments according to a standard procedure. The patients with iRBD were further divided into two groups (high or low RME) according to the scores of the RME (> 21, or ≤ 20). RESULTS: The patients with iRBD had worse scores on cognitive tests compared with healthy controls involving global cognitive screening, memory, and visuospatial abilities (p < 0.05), but the scores of the RME were similar between the two groups (20.83 ± 3.38, 20.58 ± 3.43) (p ˃ 0.05). Patients with low RME had more obvious cognitive impairments than healthy controls. After applying Bonferroni correction for multiple tests, the low REM group only performed worse on the Sum of trials 1 to 5 and delayed recall of the RAVLT compared with the healthy control group (p < 0.001, = 0.002). The RME correlated with the scores of cognitive tests involving executive function, attention, memory, and visuospatial function. CONCLUSIONS: The changes in RME had a relationship with cognitive impairments, especially memory, in patients with iRBD.

Case report: the etiology of anterior inferior cerebellar artery infarction: what does basi-parallel anatomic scanning magnetic resonance imaging tell us?

BACKGROUND: The precise etiology of anterior inferior cerebellar artery (AICA) infarction is difficult to identify because of the high anatomic variability of vertebrobasilar arteries and the limitations of conventional vascular examinations. Basi-parallel anatomic scanning magnetic resonance imaging (BPAS-MRI) can reveal the outer contour of the intracranial vertebrobasilar arteries, which may be helpful to distinguish the arteriosclerosis from congenital dysplasia and dissection. CASE PRESENTATION: In this study, we reported 3 cases of AICA infarction and discussed the diagnostic value of BPAS-MRI in the evaluation of vascular etiology. CONCLUSIONS: The BPAS-MRI could be considered as an important supplementary in the diagnosis of vascular etiology of infarction in AICA territory.

Regional cerebral blood flow correlates eating abnormalities in frontotemporal dementia.

BACKGROUND: Eating abnormalities are one of the core symptoms of frontotemporal dementia (FTD), especially for behavioral variant FTD (bvFTD), and semantic variant primary progressive aphasia (svPPA). METHODS: A group of FTD patients (43 bvFTD, 29 svPPA) underwent single-photon emission CT (SPECT) to measure the region cerebral blood flow (rCBF). The Cambridge Behavioral Inventory (CBI) was used to measure the eating abnormalities. A whole-brain voxel-based correlation between eating abnormalities and rCBF was investigated. RESULTS: In bvFTD, the sweet preference was correlated with decreased rCBF in the bilateral gyrus rectus and temporal pole, and eating the same food was correlated with the left ventral anterior cingulate cortex. In svPPA, decreased rCBF in the left inferior temporal gyrus was correlated with eating the same food. CONCLUSIONS: These findings showed that either different symptoms in the same subtype or the same symptom in different subtypes of FTD may be correlated with different regions, indicating different neural mechanisms behind them.

Effect of serum uric acid on cognition in patients with idiopathic REM sleep behavior disorder.

Idiopathic rapid eye movement sleep behavior disorder (iRBD) likely represents the prodromal stage of synucleinopathy. The present study investigated how levels of serum uric acid (UA) affect cognition and motor function in patients with iRBD. A total of 42 patients with iRBD and 45 healthy controls were included. All participants were given cognitive tests and motor assessments. Serum UA concentrations were measured. The patients were further divided into two groups (high or low UA) according to serum UA level. The level of serum UA was similar between the patients with iRBD and the healthy controls, whereas the patients showed impaired executive, memory, and visuospatial functions. The patients with low UA levels had longer durations of RBD. Lower scores involving attention, executive function, and language domain were also found in the patients with low UA, whereas the scores of the patients with high UA were similar to those of the healthy controls. Regarding memory domain, the low UA group had worse scores than the healthy controls, whereas the scores of high UA group fell between those of the low UA group and the healthy controls. Motor function was not affected in any of the groups. UA affects cognitive function but not motor function in patients with iRBD, which could contribute to its antioxidant and neuroprotective roles.

Dose effects of mycophenolate mofetil in Chinese patients with neuromyelitis optica spectrum disorders: a case series study.

BACKGROUND: Neuromyelitis optica (NMO) spectrum disorder (NMOSD) is a devastating autoimmune inflammatory disorder of the central nervous system, which can result in blindness or paralysis. Currently, there is a dire need for new treatment options in the clinic. Several case series have shown that mycophenolate mofetil (MMF) may be an effective treatment for NMOSD patients. The dosing of MMF in the treatment of NMOSD has been poorly studied. Therefore, we evaluated the efficacy, tolerability, influential factors and optimal dosage of MMF in Chinese patients with NMOSD. METHODS: A case series of 109 NMO or NMOSD (limited forms of NMO with seropositive AQP4-IgG) patients were retrospectively analyzed and followed up. Out of the 109 patients, 86 patients had received MMF for 6 months or longer and were included for efficacy assessment. RESULTS: When comparing the annualized relapse rate (ARR) of MMF treatment with that of pre-MMF treatment period, MMF was found to significantly reduce ARR in 75 (87%) patients (p < 0.0001). The median pre-treatment Expanded Disability Status Scale (EDSS) score in remission decreased from 3 (range, 0-8.5) to 2.5 (range, 0-8) at the last follow-up (p = 0.006), yet no significant difference was found in the visual score. The higher doses of MMF (1750 mg/d to 2000 mg/d) significantly lowered the relapse risks compared with lower doses (1000 mg/d or less, p < 0.0001) or moderate doses (1250 to 1500 mg/d, p = 0.031). Coexisting with systemic autoimmune diseases (HR, 2.418; p = 0.0345) and attack number before MMF initiation (HR, 1.117; p = 0.02) were important risk factors for relapses. MMF was generally well tolerated with adverse effects occurring in 21 patients (19%). While four patients decreased their daily doses because of the adverse effects, only one patient stopped MMF treatment. CONCLUSIONS: MMF is generally effective and well tolerated in Chinese NMOSD patients. High-dose MMF was more potent than the lower dose for NMOSD patients, with 1750 mg of daily MMF being the recommended dosage for Chinese patients with NMOSD. MMF treatment reduces the frequency of relapses and improves the quality of life for patients with this debilitating disease.

The role of the Montreal Cognitive Assessment (MoCA) and its memory tasks for detecting mild cognitive impairment.

To investigate the role of the Montreal Cognitive Assessment (MoCA) (Beijing version) and its memory tasks on detecting different mild cognitive impairment (MCI) subtypes including amnestic MCI (aMCI) and nonamnestic MCI (naMCI) in memory clinics. A total of 121 patients with MCI and 53 healthy controls were included. Fifty-six aMCI-multiple domains (amMCI), 32 aMCI-single domain (asMCI), and 33 naMCI patients were diagnosed according to extensive cognitive tests. All participants were administered by the Mini Mental State Examination (MMSE) and the MoCA. Patients with amMCI performed worse than patients with asMCI, naMCI, and healthy controls on the MMSE and the MoCA (p < 0.001). The area under the curve (AUC) value for the MoCA when comparing the amMCI and control groups was 0.884 (p < 0.001), which was superior to that of the MMSE. The AUC value decreased to 0.687 when applied to the naMCI and control groups (p = 0.007), which was still higher than that of the Rey Auditory Verbal Learning Test (RAVLT) or the Rey-Osterrieth complex figure (ROCF). Delayed free recall or category prompted recall in the MoCA had roles in differentiating asMCI and controls groups with AUC value of 0.717 (p = 0.002) and 0.691 (p = 0.005), respectively. The MoCA is a good screening tool for detecting different types of MCI and is suitable for patients in outpatient clinics.

Transcranial sonography in idiopathic REM sleep behavior disorder and multiple system atrophy.

AIM: We investigated preclinical abnormalities as revealed by transcranial sonography (TCS) in patients with idiopathic rapid eye movement sleep behavior disorder (iRBD) compared with those revealed in patients with multiple system atrophy (MSA) or Parkinson's disease (PD) and in normal controls. METHODS: Twenty-two patients with iRBD, 21 patients with MSA, 22 patients with PD, and 21 normal controls were included in this study. All participants underwent one night of video-polysomnography monitoring, and the sleep parameters were analyzed using Polysmith software and by visual analysis. TCS was performed following a standardized procedure. The echogenicity of the substantia nigra and basal ganglia were evaluated. RESULTS: A greater proportion of PD patients were found to have substantia nigra hyperechogenicity (86.4%) when compared to iRBD patients (31.8%), MSA patients (23.8%), and normal controls (4.8%) (P < 0.001). Fourteen MSA patients (66.7%) and 11 iRBD patients (50.0%) had hyperechogenicity in the basal ganglia, whereas hyperechogenicity in the basal ganglia was less frequent in PD patients (18.2%) and normal controls (9.5%) (P < 0.001). Poor sleep efficiency, less stage II sleep time, and more periodic leg movements were found in MSA and PD patients, whereas iRBD patients had almost normal sleep. CONCLUSION: Some iRBD patients had basal ganglia hyperechogenicity that was similar to that observed in MSA, which may represent another possible convert direction. The present study further confirmed iRBD as a prodromal stage of synucleinopathy. TCS could detect subclinical changes and thus might provide useful markers for identifying individuals at increased risk for developing a synucleinopathy.

A case report of SPG11 mutations in a Chinese ARHSP-TCC family.

BACKGROUND: Autosomal recessive hereditary spastic paraplegia (ARHSP) with thin corpus callosum (TCC) is a complicated form of hereditary spastic paraplegia, characterized by progressive spastic paraplegia, weakness of the lower extremities and is usually accompanied by mental retardation. Mutations in the Spastic Paraplegia gene 11 (SPG11) account for a large proportion of ARHSP-TCC cases worldwide. CASE PRESENTATION: We describe a Chinese family with ARHSP-TCC. Two daughters of this family presented with a spastic gait and cognitive impairment. Brain imaging of the index patient revealed a thin corpus callosum. We performed detailed physical and auxiliary examinations and were able to exclude acquired causes of spastic paraplegia. To determine the causative mutation, we took a candidate gene approach and screened the coding sequence and some flanking intronic sequence of SPG11 by direct Sanger sequencing. We identified two novel compound heterozygous mutations in SPG11 in affected individuals (c.1551_1552delTT, p.Cys518SerfsTer39 and c.5867-1G > T (IVS30-1G > T), p.Thr1956ArgfsTer15). Bioinformatic analysis predicts that these mutations would lead to a loss of protein function due to the truncation of the SPG11 protein. CONCLUSIONS: The results of this case report indicate a broader approach to include screening for SPG11 mutations in ARHSP-TCC patients. Our findings enrich the phenotypic spectrum of SPG11 mutations.

INF2 mutations associated with dominant inherited intermediate Charcot-Marie-Tooth neuropathy with focal segmental glomerulosclerosis in two Chinese patients.

Recently, mutations in the inverted formin 2 (INF2) gene have been indentified in patients with dominant inherited intermediate Charcot-Marie-Tooth neuropathy (DI-CMT) with focal segmental glomerulosclerosis (FSGS). We report clinical and nerve pathological changes in two Chinese patients. Case 1 is 27 years old and presented with distal muscle weakness and atrophy of legs at the age of 13 and renal failure at the age of 26. Three of his family members died due to pure renal failure. Case 2 is 22 years old and presented with distal muscle weakness and atrophy of the legs with transient attacks of difficulty in speaking at age 17. Proteinuria was found by routine urine test at the same time. Sural nerve biopsy revealed moderate-to-severe loss of myelinated fibers with union bulbs and regeneration clusters in both patients. Ultrastructurally, numerous elongated extensions of Schwann cells of unmyelinated fibers could be seen in both patients. INF2 gene mutation screening revealed c.451 T>C in case 1 and c.341 G>A in case 2. This is the first report of Chinese patients with INF2-related DI-CMT. The c.451 T>C mutant was responsible for both isolated FSGS and a dual phenotype of FSGS and neuropathy within one family. Intrafamilial variability can be found with the same INF2 mutation. The CNS manifestations further broadened the clinical spectrum of INF2- associated disorders.

[An analysis of clinical and imaging characteristics of atopic myelitis].

OBJECTIVE: To study the clinical and imaging characteristics of Chinese atopic myelitis (AM) patients. METHODS: Three diagnosed AM patients were retrospectively analyzed for the clinical data, serum IgE level, antigen specific IgE, cerebrospinal fluid, spinal MRI and therapeutic efficacy profiles. RESULTS: All the three patients were male and presented as subacute AM with the onset at 25, 47 and 49 years old respectively. Two patients were allergic to pollen and other drugs, while another patient suffered from allergic rhinitis. Elevated serum total IgE and mite antigen specific IgE were found in all cases. Paraesthesia in limb extremities and positive Lhermitte sign were the main clinical features, while no optic, motor, urinary and defecation disturbance were found. Oligoclonal banding of cerebrospinal fluid and serum aquaporin 4 (AQP4) antibody were both negative in all cases. Spinal MRI showed lesions were hypointense on T1 and hyperintense on T2 at the posterior column of T2-3 segment with abnormal enhancement in case 1, hypointense on T1 and hyperintense on T2 at C2/3 segment with mild swelling in case 2 and hypointense on T1 and hyperintense on T2 at C3-5 segments with swelling and abnormal enhancement in case 3. Vitamin B were used in one patient, while the other two patients improved after the treatment with high-dose corticosteroids. CONCLUSIONS: Subacute myelitis predominantly presents as paraesthesia in limb extremities with elevated serum total IgE and mite antigen specific IgE, while severe motor disorders are rare. Swelling and abnormal enhancement lesions at the posterior column of cervical cord are the common imaging features. Treatment with corticosteroids is recommended to be sustained for 3-6 months.

[Clinical analysis of carotid angioplasty stenting for high-grade extracranial carotid artery stenosis combined with severe tortuosity].

OBJECTIVE: To observe the feasibility and safety of carotid angioplasty stenting (CAS) for high-grade extracranial carotid artery stenosis combined with severe tortuosity. METHODS: Twenty patients diagnosed with high-grade extracranial carotid artery stenosis combined with severe tortuosity by cerebral angiography, who were in hospital in neurology department of China-Janpan friendship from June 2011 to June 2014. Twelve of these patients were symptomatic. All cases weren't suit for or disagreed with carotid endarterectomy (CEA) to accept CAS. We retrospectively discussed the rates of technical success, the perioperative complications and clinical improvement. During the follow-up for 4 to 40 months we observed the events of cured carotid artery territory stroke and death, and record the plaque hyperplasia in stent, in-stent restenosis, stent deformation or fracture by color doppler ultrasonography or craniocervical CT angiography. RESULTS: (1) The results of operation: the rate of technical success was 19/20 and the rate of the distal protection device placement was 18/20. One stent and 2 distal protection device were difficult to pass the tortuous access vessels. The kinking was the most common in circuity classification of internal carotid artery. The stenosis was significantly improved after stenting, and the mean degree of stenosis was reduced from (82% ± 9%) before stenting to (7% ± 6%) after stenting. Although 5 patients were with perioperative complications, all symptoms disappeared within 1 weeks, and there was no stent related death and disability. There were 4 cases with vascular spasm, one of them was combined with carotid sinus reaction, and anther with transient ischemic attack (TIA) during operation. There was one with ipsilateral carotid territory minor stroke. (2) The results of prognosis and follow up: The clinical symptoms from 12 symptomatic patients were improved significantly on discharge, and the average NIHSS scores on admission were reduced from (4 ± 4) to (2 ± 2) on discharge. One patient experienced ipsilateral carotid territory minor stroke and another patient experienced ipsilateral carotid territory TIA during the follow-up for an average of 19 months, and there were 5 cases with mild plaque hyperplasia in stent and no in-stent restenosis, stent deformation or fracture. CONCLUSION: The severe tortuosity of extracranial carotid artery may affect the using of intervention materials and increase the complexity of CAS, but for the patients who disagree with CEA or were with the contraindications to CEA, CAS may be still a relatively safe, effective and alternative treatment.

[Serum uric acid level and clinical relevance analysis in autoimmune myelopathy].

OBJECTIVE: To quantify serum uric acid (UA) levels in autoimmune myelopathy (AMs) patients and analyze the clinical relevance. METHODS: Blood samples from hospitalized patients with AMs (n = 69) in acute phase and other neurological disorders (n = 50) between September 2009 and December 2013 and healthy subjects (n = 50) were used to detect UA level by enzymatic calorimetric method.Expanded disability status scale (EDSS) and spinal MRI-T2 imaging were used for clinical and imaging severity evaluations.And serum AQP4 anitbody and other antibodies were tested. RESULTS: Serum UA level in AMs patients ((223 ± 76) µmol/L) was lower than in controls ((325 ± 53) µmol/L and (324 ± 48) µmol/L, P < 0.001); for clinical relevance analysis, serum UA levels in females ((208 ± 64) µmol/L), age ≥ 40 years ((185 ± 64) µmol/L), EDSS score ≥ 4.5 ((179 ± 59) µmol/L), transverse lesion ((179 ± 56) µmol/L) and neuromyelitis optica/spectrum disorders ((199 ± 70) µmol/L) were lower than in males ((252 ± 88) µmol/L, P < 0.05), age < 40 years ((266 ± 66) µmol/L, P < 0.001), EDSS score < 4.5 ((257 ± 70) µmol/L, P < 0.001), non-transverse lesion ((274 ± 64) µmol/L, P < 0.001) and multiple sclerosis ((261 ± 69) µmol/L, P < 0.05). An inverse correlation existed between UA level and involved spinal segments (r = -0.665, P < 0.001); status of serum antibodies and associated diseases showed no significant differences. CONCLUSION: Serum UA level is low and shows strong relevance with clinical and imaging severity in AMs patients. And UA is recommended as a biomarker of AMs.

[Carpal tunnel syndrome with cervical spondylotic radiculopathy: a clinical and electrophysiological study].

OBJECTIVE: To study the clinical and electrophysiological characteristics of carpal tunnel syndrome (CTS) with cervical spondylotic radiculopathy (CSR) and simple-CTS, and compare the effect of double crush with that of simple entrapment on a nerve and investigate the association between CTS and CSR. METHOD: From January 2011 to August 2014, clinical data from 96 patients with double crush syndrome (DCS, CTS with CSR) and 165 patients with simple-CTS were examined, and the electrophysiologic parameters of median nerve in patients with DCS were compared with that in patients with simple-CTS. RESULTS: In 96 patients with DCS, most of them were female; neck and shoulder pain or simultaneously accompanied by numbness and pain of upper limb was observed in 34 patients, upper limb symptoms and hand weakness and muscle atrophy were observed in the other 62 patients, 124 median nerves with abnormal conduction were found in these DCS patients, including 68 cases with unilateral abnormalities and 28 cases with bilateral abnormalities. Cervical radiculopathies of the C5-7 mainly involved in patients with DCS.223 median nerves with abnormal conduction found in the 165 patients with simple-CTS, including 107 cases with unilateral abnormalities and 58 cases with bilateral abnormalities. The average sensory nerve conduction velocity (SCV), motor nerve conduction velocity (MCV) and distal motor latency (DML) of median nerve for DCS and simple-CTS were (32±7) m/s vs (35±5) m/s, (55±7) m/s vs (57±5) m/s and (4.6±1.6) ms vs (4.0±0.8) ms, respectively, and their corresponding amplitudes were 6.4 µV vs 9.5 µV, 10.9 mV vs 13.1 mV and 11.3 mV vs 14.1 mV, respectively. The SCV, MCV and DML and their corresponding amplitude of DCS were significantly greater decreased than that of simple-CTS (P<0.01). CONCLUSION: DCS is a common clinical syndrome, and patients with DCS may have neck and shoulder symptoms in addition to the common manifestations of simple-CTS. Abnormal conduction of median nerve of CTS with CSR is more severe than that of simple-CTS, which neurophysiologically proves the association between CTS and CSR and supports double crush hypothesis.

[Diagnosis of Muscular Dystrophy Using Western Blot with Micro-sample of Muscle].

OBJECTIVE: To diagnose muscular dystrophy using Western blot (WB) by improving the method of the protein extraction. METHOD: Firstly,we compared the effect of different sample buffer solutions and processing Methods on the extraction of muscle protein in rats,then selected the appropriate extracting method and the process of the muscular protein. RESULTS: We put the selected sample buffer into the micro-sample,then mixed. The concentration of the extracting protein was much more,and the loss during the process was much less. We extracted enough protein in 62 cases. The protein bands were showed clearly by WB,and the abnormal protein bands were shown in some patients. Compared with the Results of immunohistochemical staining detected the severe abnormal expressions of Dys-R,Dys-C,and Dys-N in the specimens,we did not detect the corresponding target band in WB. We detected the target protein band of the specimens were abnormal position,light or normal staining in WB,while Dys were mildly expressed in immunohistochemical staining. CONCLUSIONS: The improved protein extraction method can save the muscle tissue,and the protein bands can be used for diagnosing the muscular dystrophy. For clinically suspected patients with dystrophinopathy,if normal or mild deficiency is shown by immunohistochemistry,WB should be applied to detect the dystrophin protein band.

[Limb-girdle muscular dystrophy type 2G: clinical, pathological and genetic analysis of a case].

OBJECTIVE: To investigate TCAP gene mutation and clinical features of a Chinese patient with limb-girdle muscular dystrophy type 2G(LGMD 2G). METHODS: Clinical data of the patient was analyzed. Exons of the TCAP gene were amplified and sequenced. RESULTS: The patient has presented clinically as LGMD and pathologically as vacuolar myopathy. Genetic analysis has identified compound heterozygous mutations of exons 1 and 2 of the TCAP gene(c.100delC, c.166insG). CONCLUSION: LGMD is a group of neuromuscular disorders with substantial phenotypic heterogeneity. Genetic diagnosis has become indispensable for accurate diagnosis for patients suspected to have the disease.

[Association between basilar artery hypoplasia and posterior circulation infarction].

OBJECTIVE: To explore the relationship between basal artery hypoplasia (BAH) and posterior circulation ischemic stroke and its clinical characteristics to improve the understanding of BAH. METHODS: A total of 328 hospitalized patients from April 2012 to April 2014 were enrolled retrospectively. With normal course and regular shape of basilar artery on brain magnetic resonance angiography (MRA), other causes of posterior circulation ischemic stroke were excluded. They were divided into BAH (n = 48) and non-BAH (n = 280) groups according to the morphology and diameter of basilar artery on head MRA. We compared the general information and intracranial vascular variations between two groups, especially the incidence rate of posterior circulation infarction and mean blood flow velocity (Vm) of basal artery by analyzing clinical information and MRI findings. Meantime, their clinical outcomes were observed through follow-ups. And detailed clinical features were discussed for the patients with posterior circulation infarction in the BAH group. RESULTS: (1) The concurrent lesions included vertebral artery intracranial segment hypoplasia (n = 24, VAH), fetal type posterior artery (n = 18, FTPA), persistent trigeminal artery (n = 1) and giant fenestration variation on vertebral artery (n = 1) in the BAH group. In comparison, it was more liable to cranial vascular variations in the BAH group (P < 0.05). (2) The incidence rates of posterior circulation infarction for two groups were 35.4% (17/48) and 8.6% (24/280) respectively. In comparison, these cases in the BAH group were more likely to suffer from posterior circulation ischemic stroke (P < 0.05) and the Vm of basal artery in the BAH group was obviously lower than that in the non-BAH group (P < 0.05). (3) these cases with stroke in two groups had no mortality during a follow-up period of 4-28 months. There were 3 cases with recurrent posterior circulation stroke in the non-BAH group. The number of cases with mRS scoring 2 points or less in the BAH group was more than that in the non-BAH group at discharge, 30 or 90 days after discharge (P < 0.05). (4) these cases with posterior circulation stroke in the BAH group often presented as lacunar syndrome (9/17), paramedian infarction in pons (9/17) and bilateral VAH plus unilateral FTPA (8/17). CONCLUSION: As a relatively rare disease, BAH often has other intracranial vascular variants. Posterior circulation stroke occurs due to reduced blood supply of vertebrobasilar system, especially pons infarction. Though with relatively good clinical outcomes, we still need to make an early diagnosis and strengthen stroke prevention.

[Analysis of clinical features for 8 patients with autoimmune dementia].

OBJECTIVE: To explore the clinical features and therapeutic profiles of autoimmune dementia. METHODS: Eight hospitalized patients with autoimmune dementia during March 2011 and May 2013 were recruited and retrospectively analyzed for clinical features, as well as therapeutic and prognosis profiles. RESULTS: There were 3 males and 5 females with a onset age range of 45-72 years. Their onsets varied from acute (n = 3), subacute (n = 1) to chronic (n = 4).Six of them had a fluctuating course. The diagnoses were multiple sclerosis (n = 3), paraneoplastic limbic encephalitis (n = 2) and Hashimoto's encephalopathy (n = 1), microscopic polyangiitis (n = 1) and unclassified autoimmune encephalopathy (n = 1). Progressive memory loss without delirium was the main symptom.In addition, 3 patients suffered epilepsy, 2 with intractable hyponatremia, 4 with positive serum autoimmune or paraneoplastic antibodies, 7 with inflammatory cerebrospinal fluid, 4 with abnormal electroencephalography (EEG) and 8 with various changes on brain magnetic resonance imaging (MRI). Two patients had concurrent Hashimoto's thyroiditis and another with small cell lung cancer. All patients improved after treatment with immunological and antineoplastic therapies. CONCLUSION: Autoimmune dementia has complex causes with a rapidly progressive and fluctuating course. The coexisting conditions include epilepsy, hyponatremia, organ-specific autoimmunity, inflammatory spinal fluid with abnormal EEG and brain MRI findings.Immunotherapy is recommended.

[Longitudinally extensive spinal cord lesion: etiology and imaging features].

OBJECTIVE: To explore the etiologies and imaging features of longitudinally extensive spinal cord lesion (LESCL). METHODS: The etiologies and magnetic resonance (MR) imaging features of 51 hospitalized LESCL patients from January 2011 to August 2013 were reviewed and retrospectively analyzed. RESULTS: Among them, the causes were neuromyelitis optica spectrum disorder (NMOSD, n = 25), isolated longitudinally extensive transverse myelitis (n = 6), subacute combined degeneration (n = 4), multiple sclerosis (MS, n = 3), paraneoplastic myelopathy (n = 3), anterior spinal artery syndrome (n = 3), acute disseminated encephalomyelitis (n = 2), spinal dural arteriovenous fistula (n = 2), intramedullary spinal cord metastasis (n = 1), myelopathic leukemia (n = 1) and syringomyelus (n = 1). For MR imaging, at least one lesion of each patient presented continuously longitudinal profile and whole-length spinal cord was involved in 11 patients. CONCLUSION: LESCL may be caused by various diseases. And the imaging features may aid its diagnosis despite a lack of specificity.

FCGR3A-V158F gene polymorphism: A potential predictor for rituximab dosing optimization in Chinese patients with neuromyelitis optica spectrum disorder.

BACKGROUND: Rituximab (RTX), an anti-CD20 monoclonal antibody, has shown promise in managing neuromyelitis optica spectrum disorders (NMOSD) by depleting B cells and reducing relapses. However, there is no consensus on the optimal RTX dosing regimen, and genetic factors, such as FCGR3A-V158F polymorphism, may influence treatment outcomes. This study investigates how FCGR3A-V158F genotypes influence RTX efficacy in Chinese NMOSD patients under varying dosing regimens and aims to optimize treatment protocols. METHODS: We conducted a retrospective analysis of 25 Chinese NMOSD patients treated with RTX, grouped into standardized and low-dosage regimens. FCGR3A-V158F genotypes were determined, and treatment responses were evaluated, including relapse rates, time to first relapse (TFR), B-cell depletion, dose adjustments, and treatment retention. RESULTS: Among all patients, 15 received standardized dosages, while 10 received varied induction doses (500 mg to 1200 mg) in low-dose regimens. For FCGR3A-V158F genotypes, 15 had the FF genotype, and 10 were V carriers (3 VV genotype, 7 VF genotype). Regardless of dosing, FF genotype patients had a higher relapse rate post-RTX treatment compared to V carriers (P < 0.05). None of the 3 VV genotype patients in either dose group experienced relapses post-RTX. In both dose groups, FF genotype patients had significantly shorter TFR and required more RTX dose adjustments post-RTX treatment compared to V carriers in the standardized dosage group (P < 0.05). FF genotype patients in the low dosage group were more likely to experience insufficient B-cell depletion, had lower treatment retention rates, and more discontinuations than V carriers in the standardized dosage group (P < 0.05). Insufficient B-cell depletion significantly predicted clinical relapses after RTX treatment (P < 0.05). In survival analysis, FF genotype patients, regardless of dosing, experienced earlier relapses post-RTX treatment (P < 0.05). CONCLUSIONS: This study highlights the importance of RTX dosage selection in NMOSD treatment, particularly for FCGR3A-FF genotype patients. Standard-dose RTX therapy with vigilant monitoring of peripheral blood B-cell levels is recommended for these individuals to optimize treatment efficacy.

Assessment of Lumbosacral Nerve Roots in Patients with Type 2 Diabetic Peripheral Neuropathy Using Diffusion Tensor Imaging.

BACKGROUND: Diffusion tensor imaging (DTI) has found clinical applications in the evaluation of the central nervous system and has been extensively used to image peripheral neuropathy. However, few studies have focused on lumbosacral nerve root fiber damage in diabetic peripheral neuropathy (DPN). The aim of the study was to evaluate whether DTI of the lumbosacral nerve roots can be used to detect DPN. METHODS: Thirty-two type 2 diabetic patients with DPN and thirty healthy controls (HCs) were investigated with a 3T MRI scanner. DTI with tractography of the L4, L5, and S1 nerve roots was performed. Anatomical fusion with the axial T2 sequences was used to provide correlating anatomical information. Mean fractional anisotropy (FA) and apparent diffusion coefficient (ADC) values were measured from tractography images and compared between groups. Diagnostic value was assessed using receiver operating characteristic (ROC) analysis. The Pearson correlation coefficient was used to explore the correlation between DTI parameters and clinical data and the nerve conduction study (NCS) in the DPN group. RESULTS: In the DPN group, FA was decreased (p < 0.001) and ADC was increased (p < 0.001) compared with the values of the HC group. FA displayed the best diagnostic accuracy, with an area under the ROC curve of 0.716. ADC was positively correlated with HbA1c level (r = 0.379, p = 0.024) in the DPN group. CONCLUSIONS: DTI of lumbosacral nerve roots demonstrates appreciable diagnostic accuracy in patients with DPN.