Objective To investigate the clinical features of patients with neuromyelitis optica spectrum disorders （NMOSD） mainly manifesting as somnolence， and to improve the awareness of this disease among clinicians. Methods A retrospective analysis was performed for the medical records of nine patients with NMOSD who were admitted to Xuanwu Hospital， Capital Medical University， from May 2021 to May 2024 and had the main clinical manifestation of somnolence， including general information， cranial and/or spinal MRI findings， polysomnography （PSG） results， cerebrospinal fluid （CSF） routine parameters， aquaporin-4 （AQP4） antibody， the level of orexin in CSF， treatment response， and prognosis. Results The age of onset in the nine patients ranged from 18 to 62 years， with a median of 30 （24，47） years， and the male/female ratio was 1∶8. Among the nine patients， six had the initial symptom of somnolence， three developed somnolence after other symptoms， and five had the manifestations of other diencephalic syndromes. All nine patients were tested for AQP4 in CSF and serum and were found positive for AQP4 antibody in CSF and/or serum. All nine patients had abnormal signals in both thalami and para-third ventricles on cranial MRI. Three patients underwent PSG and were found to have a shortened sleep latency and sleep architecture disorder， among whom one had the electrophysiological manifestation of narcolepsy and one had the manifestation of hypoventilation in severe sleep apnea. The level of orexin in CSF was measured for two patients， and the results showed that the level of orexin was lower than the normal level in both patients. All nine patients received glucocorticoid pulse therapy， and some patients were given intravenous immunoglobulin and/or subsequent sequential immunotherapy. All patients had a significant improvement in the symptom of somnolence at discharge. Conclusion In the core symptoms of NMOSD， acute diencephalic syndrome manifesting as somnolence is relatively rare in clinical practice and is easily misdiagnosed in the early stage， and the possibility of NMOSD should be considered for unexplained somnolence. Imaging examination and AQP4 antibody detection are of significant value for the diagnosis of this disease， and sleep monitoring can provide an objective assessment of sleep status. Immunotherapy is the main treatment method for this disease， and most patients have a good prognosis.

We report a case of anti-IgLON5 disease with a motor neuron disease-like presentation admitted to the Department of Neurology, Xuanwu Hospital, Capital Medical University in July 2021. The patient was a 71-year-old female who presented with the chief complaint of limb weakness persisting for 4 months. She showed progressive limb weakness accompanied by muscle atrophy. Electromyography (EMG) revealed extensive neurogenic damage. Initial serum evaluation for neural-specific autoantibodies was positive for IgLON5-Ab (1∶100). Repeat testing confirmed IgLON5-Ab positivity with a titer of 1∶1 000. The patient was diagnosed with anti-IgLON5 disease and treated with methylprednisolone and immunoglobulin, leading to clinical improvement. We found four relevant articles reporting a total of 11 similar cases. Thus, in this study, we analyzed a total of 12 cases, including our patient. Based on their clinical manifestations, these cases can be categorized into two types: amyotrophic lateral sclerosis(ALS)type and isolated bulbar type. Six cases—three males and three females—presented with the ALS type. Of these, three cases had diffuse limb weakness accompanied by muscle atrophy(two cases had diffuse hyperreflexia and one had a normal tendon reflex); one case presented with neck extensor weakness and bilateral asymmetric upper extremity weakness and was hyperreflexic at the bilateral patellar tendons; one case displayed asymmetric weakness in both lower limbs with normal deep reflexes, and one case exhibited neck weakness with hyperreflexia. EMG revealed diffuse lower motor neuron disease involving two or three regions. All patients tested positive for serum anti-IgLON5 antibodies. Four were also positive for anti-IgLON5 antibodies in cerebrospinal fluid, two were negative, and six were not tested. Among the 11 patients who received immunotherapy, 4 showed partial improvement in clinical symptoms, 2 exhibited transient improvement, 2 remained stable, and 3 showed no improvement. Testing for IgLON5-Ab should be considered among patients presenting with bulbar symptoms or ALS-like features, especially those with acute or subacute onset, rapid progression, autonomic dysfunction, vocal cord paralysis requiring tracheotomy, cognitive impairment, or involuntary movements. Early diagnosis and treatment may improve clinical symptoms and reduce adverse outcomes.

Objective:To analyze the clinical characteristics of 14 patients with severe autoimmune glial fibrillary acidic protein astrocytopathy (GFAP-A).Methods:A retrospective analysis was conducted on the clinical data of 14 patients diagnosed with severe GFAP-A in Xuanwu Hospital, Capital Medical University, between July 2023 and September 2024.Results:(1) Fourteen patients were included in the study, including 11 males and 3 females, aged 15-66 years (average: 39±13 years). The time from disease onset to consciousness impairment was 4-15 days, with an average of 10±3 days. (2) The primary initial main symptoms were fever, headache, limb weakness, and abnormal mental behavior. As the condition worsened, all patients developed consciousness disorders, and 11 experienced respiratory failure requiring tracheal intubation. (3) Intracranial lesions often involved both cerebral hemispheres, the thalamus, basal ganglia, and the brainstem. Spinal cord lesions involved the cervical and thoracic regions. (4) Most patients had elevated intracranial pressure. In the cerebral spinal fluid (CSF), all patients exhibited elevated protein levels and a high white blood cell count, predominantly monocytes, along with reduced glucose levels. (5) Treatment encompassed combinations of immunotherapies, including hormones, human immunoglobulin, plasma exchange, or immunoadsorption.Conclusions:The clinical manifestations of critically ill GFAP-A patients are heterogeneous. Disease progression is rapid, and the symptoms are increasingly severe, making early diagnosis difficult. Head and spinal cord MRI, CSF analysis, and GFAP-IgG testing are essential for diagnosis. After immunotherapy, most patients have a good prognosis.

Objective:To improve the understanding of the clinical manifestation of immunoglobulin G 4-related disease (IgG 4-RD) with neurological involvement. Methods:Patients presenting with neurological symptoms and biopsy-confirmed IgG 4-RD were enrolled between March 2014 and March 2024 from the Department of Neurology of Xuanwu Hospital of Capital Medical University. Medical record data of all patients were retrospectively reviewed, including clinical manifestations, laboratory findings, radiological results, pathology, treatments, and outcomes. RD were enrolled between March Results:Nine patients (five males, four females; median age at onset: 63 years) were included in the study. Neurological manifestations consisted of pachymeningitis in six cases, peripheral nerve involvement in two, and brain parenchyma involvement in one. Four patients displayed isolated neurologic symptoms. The most common clinical manifestations were headache and cranial nerve palsy, each involving five cases. Magnetic resonance imaging showed thickening and enhancement of the dura mater in the six patients with pachymeningitis. Four of these cases involved the posterior cranial fossa, 3 presented with an inflammatory pseudotumor, and 2 involved the spinal cord. Four patients with pachymeningitis had normal serum IgG 4 concentrations. Eight patients exhibited elevated serum C-reactive protein or erythrocyte sedimentation rates, with some also showing decreased complement C3 and C4 levels. Cerebrospinal fluid immunoglobulin was elevated in all nine cases. In all cases, histopathologic biopsy results showed extensive infiltration of lymphocytes and plasma cells, with the latter displaying IgG 4+abnormalities. All patients received glucocorticoid therapy, with six also receiving immunosuppressants. All patients were followed up for a median of 30 months, with outcomes including two complete remissions, five partial remissions, one unchanged condition, and one death. Six patients experienced a relapse. Conclusions:Isolated hypertrophic pachymeningitis is the most common manifestation of IgG 4-RD, often occurring in the absence of elevated serum IgG 4 levels. Peripheral nerve and brain parenchyma involvement can also be seen. Clinical manifestations are non-specific, and histopathologic biopsy is frequently required for diagnosis. Although the disease responds well to hormone treatment, recurrence is common. Early combined immunosuppressive therapy can improve prognosis.

We report a case of anti-IgLON5 disease with a motor neuron disease-like presentation admitted to the Department of Neurology, Xuanwu Hospital, Capital Medical University in July 2021. The patient was a 71-year-old female who presented with the chief complaint of limb weakness persisting for 4 months. She showed progressive limb weakness accompanied by muscle atrophy. Electromyography (EMG) revealed extensive neurogenic damage. Initial serum evaluation for neural-specific autoantibodies was positive for IgLON5-Ab (1∶100). Repeat testing confirmed IgLON5-Ab positivity with a titer of 1∶1 000. The patient was diagnosed with anti-IgLON5 disease and treated with methylprednisolone and immunoglobulin, leading to clinical improvement. We found four relevant articles reporting a total of 11 similar cases. Thus, in this study, we analyzed a total of 12 cases, including our patient. Based on their clinical manifestations, these cases can be categorized into two types: amyotrophic lateral sclerosis(ALS)type and isolated bulbar type. Six cases—three males and three females—presented with the ALS type. Of these, three cases had diffuse limb weakness accompanied by muscle atrophy(two cases had diffuse hyperreflexia and one had a normal tendon reflex); one case presented with neck extensor weakness and bilateral asymmetric upper extremity weakness and was hyperreflexic at the bilateral patellar tendons; one case displayed asymmetric weakness in both lower limbs with normal deep reflexes, and one case exhibited neck weakness with hyperreflexia. EMG revealed diffuse lower motor neuron disease involving two or three regions. All patients tested positive for serum anti-IgLON5 antibodies. Four were also positive for anti-IgLON5 antibodies in cerebrospinal fluid, two were negative, and six were not tested. Among the 11 patients who received immunotherapy, 4 showed partial improvement in clinical symptoms, 2 exhibited transient improvement, 2 remained stable, and 3 showed no improvement. Testing for IgLON5-Ab should be considered among patients presenting with bulbar symptoms or ALS-like features, especially those with acute or subacute onset, rapid progression, autonomic dysfunction, vocal cord paralysis requiring tracheotomy, cognitive impairment, or involuntary movements. Early diagnosis and treatment may improve clinical symptoms and reduce adverse outcomes.

Objective:To analyze the clinical characteristics of 14 patients with severe autoimmune glial fibrillary acidic protein astrocytopathy (GFAP-A).Methods:A retrospective analysis was conducted on the clinical data of 14 patients diagnosed with severe GFAP-A in Xuanwu Hospital, Capital Medical University, between July 2023 and September 2024.Results:(1) Fourteen patients were included in the study, including 11 males and 3 females, aged 15-66 years (average: 39±13 years). The time from disease onset to consciousness impairment was 4-15 days, with an average of 10±3 days. (2) The primary initial main symptoms were fever, headache, limb weakness, and abnormal mental behavior. As the condition worsened, all patients developed consciousness disorders, and 11 experienced respiratory failure requiring tracheal intubation. (3) Intracranial lesions often involved both cerebral hemispheres, the thalamus, basal ganglia, and the brainstem. Spinal cord lesions involved the cervical and thoracic regions. (4) Most patients had elevated intracranial pressure. In the cerebral spinal fluid (CSF), all patients exhibited elevated protein levels and a high white blood cell count, predominantly monocytes, along with reduced glucose levels. (5) Treatment encompassed combinations of immunotherapies, including hormones, human immunoglobulin, plasma exchange, or immunoadsorption.Conclusions:The clinical manifestations of critically ill GFAP-A patients are heterogeneous. Disease progression is rapid, and the symptoms are increasingly severe, making early diagnosis difficult. Head and spinal cord MRI, CSF analysis, and GFAP-IgG testing are essential for diagnosis. After immunotherapy, most patients have a good prognosis.

Objective:To improve the understanding of the clinical manifestation of immunoglobulin G 4-related disease (IgG 4-RD) with neurological involvement. Methods:Patients presenting with neurological symptoms and biopsy-confirmed IgG 4-RD were enrolled between March 2014 and March 2024 from the Department of Neurology of Xuanwu Hospital of Capital Medical University. Medical record data of all patients were retrospectively reviewed, including clinical manifestations, laboratory findings, radiological results, pathology, treatments, and outcomes. RD were enrolled between March Results:Nine patients (five males, four females; median age at onset: 63 years) were included in the study. Neurological manifestations consisted of pachymeningitis in six cases, peripheral nerve involvement in two, and brain parenchyma involvement in one. Four patients displayed isolated neurologic symptoms. The most common clinical manifestations were headache and cranial nerve palsy, each involving five cases. Magnetic resonance imaging showed thickening and enhancement of the dura mater in the six patients with pachymeningitis. Four of these cases involved the posterior cranial fossa, 3 presented with an inflammatory pseudotumor, and 2 involved the spinal cord. Four patients with pachymeningitis had normal serum IgG 4 concentrations. Eight patients exhibited elevated serum C-reactive protein or erythrocyte sedimentation rates, with some also showing decreased complement C3 and C4 levels. Cerebrospinal fluid immunoglobulin was elevated in all nine cases. In all cases, histopathologic biopsy results showed extensive infiltration of lymphocytes and plasma cells, with the latter displaying IgG 4+abnormalities. All patients received glucocorticoid therapy, with six also receiving immunosuppressants. All patients were followed up for a median of 30 months, with outcomes including two complete remissions, five partial remissions, one unchanged condition, and one death. Six patients experienced a relapse. Conclusions:Isolated hypertrophic pachymeningitis is the most common manifestation of IgG 4-RD, often occurring in the absence of elevated serum IgG 4 levels. Peripheral nerve and brain parenchyma involvement can also be seen. Clinical manifestations are non-specific, and histopathologic biopsy is frequently required for diagnosis. Although the disease responds well to hormone treatment, recurrence is common. Early combined immunosuppressive therapy can improve prognosis.

Post-transplant lymphoproliferative disorder (PTLD) is a solid organ or hematopoietic stem cells transplant associated syndrome, and central nervous system PTLD(CNS-PTLD) is extremely rare. A case of CNS-PTLD occurring after 24 years of kidney transplant was reported, and pathological examination proved it to be diffuse large B cell lymphoma. Cerebrospinal fluid next generation sequencing and pathological examination supported that Epstein-Barr virus infection was associated with it.

Objective:To report the clinical manifestation and genetic characteristics of a case of de novo Huntington′s disease due to paternal intermediate alleles. Methods:Clinical data and imaging features of a middle-aged female, who complained of unstable walking without positive family history and was admitted to Xuanwu Hospital, Capital Medical University on September 20, 2022, were retrospectively analyzed. The serum samples of the patient and her parents were used to screen HTT gene dynamic mutation in accordance with the principle of informed consent and voluntary. And the relevant literatures were reviewed. Results:This is a 38-year-old female with progressive course, who presented as ataxia, involuntary movement at the end of extremities, dystonia, and cognitive impairment. Imaging results showed atrophy of bilateral caudate nuclei, as well as decreased glucose metabolism of bilateral caudate nuclei, putamen and partial cortex. Genetic testing showed the abnormal expansion of polymorphic trinucleotide (CAG) repeats in HTT gene and confirmed the diagnosis of Huntington′s disease. The CAG repeat length of the patient was 17/47 (pathopoiesis), of the father was 17/35 (intermediate alleles), and of the mother was 17/17 (normal). Conclusions:Paternal intermediate alleles may cause the first case of Huntington′s disease in a family. Importantly, HTT gene screening should be performed for the patient and parents when the diagnosis of Huntington′s disease is clinically possible despite negative family history, to prevent the misdiagnosis.

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,