Clinical features and immunotherapy outcomes of anti-glutamic acid decarboxylase 65 antibody-associated neurological disorders.

We described the clinical and neuroimaging characteristics of seven Chinese patients with anti-GAD65 antibody-associated neurological disorders of whom epileptic seizures were the initial and main symptoms. All patients were given immunotherapy and followed up monthly. The outcome demonstrates that immunotherapy is helpful for non-seizure manifestations of anti-GAD65-associated neurological autoimmunity and is less effective in the treatment of seizures, yet partial responses can still occur in the early stage. Taken together we suggest a trial with immunotherapy in all patients in the early stage of the disease, and in patients with non-epilepsy symptoms in the later stage.

Clinical analysis of 42 autoimmune epilepsy patients with autoantibody / 中华神经科杂志

Objective To analyze the characteristics of clinical manifestation, brain magnetic resonance imaging ( MRI ) and 18 F-fluoro-deoxy-glucose positron emission tomography ( FDG-PET ) , inflammatory cerebrospinal fluid ( CSF ) , electroencephalography ( EEG ) , and associated tumour in autoimmune epilepsy ( AE) patients with different autoantibodies. Methods Forty-two patients diagnosed as AE with different autoantibodies in Beijing Tiantan Hospital, Capital Medical University between May 2014 and May 2017 were recruited. The clinical manifestation, brain MRI and PET, CSF findings, EEG and biochemical examination of these patients were analyzed. Results Specific autoimmune antibodies were detected in 42 patients, including anti-amphiphysin in one patient, anti-contactin-associated protein 2 in two, anti-γ-aminobutyric acid-B receptor in six, anti-leucine-rich glioma inactivated 1(LGI1) in 24, anti-N-methyl-D-aspartate receptor ( NMDAR ) in nine. The case series of 42 patients had an average age of (49. 9 ± 14. 5) years with a male to female ratio of 5:1. Except anti-NMDAR associated AE, most patients (21/33) presented with the symptoms of limbic encephalitis including temporal lobe seizures, memory decline, personality and neuropsychiatric changes, mesial temporal lobe abnormality in MRI or FDG-PET, and CSF inflammation. The seizure semiologic characteristics included frequent seizure, short seizure duration and common secondarily generalized tonic-clonic seizures during sleeping. Faciobrachial dystonic seizures and hyponatremia were the special clinical manifestation of AE with anti-LGI1. AE patients with all kinds of antibodies presented as initial resistance to anti-epilepsy drugs ( AEDs) and favorable outcome of immunosuppressive treatment in combination with AEDs. Conclusions AE patients with each type of antibody have the special clinical manifestation. Except anti-NMDAR associated AE, the seizure semiologic characteristics often present as frequent and short seizures. All AE patients present as drug refractory epilepsy initially. Seizures in AE patients can be well controlled by immunotherapy combined with AEDs.

Autoimmune encephalitis associated with vitiligo?

The autoimmune encephalitis can develop with or without an underlying tumor. For tumor-negative autoimmune encephalitis, the causes are still largely unknown. Here we presented three patients with autoimmune encephalitis accompanied with vitiligo. Among them, two patients suffered from anti-leucine-rich glioma-inactivated 1 (LGI1) encephalitis and one patient suffered from anti-IgLON5 encephalopathy. All of them received intravenous immunoglobulin and steroids as immunotherapy. The two patients with anti-LGI1 encephalitis recovered and got a good prognosis. For the patient with anti-IgLON5 encephalopathy, he only got a moderate and transient improvement. Based on the above, we speculate that vitiligo may be a clue to an autoimmune cause for encephalitis.

Clinical Manifestations and Pathology of Progressive Myoclonus Epilepsy / 中国康复理论与实践

@#Objective To explore the various types of progressive myoclonus epilepsy seizure characteristics, diagnostic strategies, and pathological features.Methods12 cases of progressive myoclonus epilepsy were analyzed with the clinical characteristics, the routine laboratory examinations, the pathological examination by light and electron microscopy to extra cranial.Results12 cases carried out routine examinations, neural electrophysiological examinations and physical examinations. The result showed that there 5 patients diagnosed with Neuronal Ceroid Lipofuscinoses, 5 patients with MERRF, 1 patient with Lafora Disease, 1 patient with Unverricht-Lundborg disease.ConclusionProgressive myoclonus epilepsy is a group of rare myoclonus epilepsy syndrome. It can be early diagnosed and properly classified with detailed medical history, characteristics of the EEG, and physical examination of extra cranial tissue, especially electron microscopy examination.

Cognitive function impairment in children with benign epilepsy with centro-temporal spikes:an event-related potential study / 中国康复理论与实践

@#ObjectiveTo find the cognitive function impairment in children with benign epilepsy with centro-temporal spikes and to find a sensitive index which can reveal the cognitive function impairment.Methods21 patients with benign epilepsy with centro-temporal spikes participated in this study. 21 normal subjects, matched for age, gender, years of education and family socioeconomic status, served as controls. Subjects were asked to judged weather the two sequentially presented numbers (S1 and S2) in a digit pair were identical or not, while event-related potential (ERPs) were recorded from electrodes on their scalp.ResultsN270 was evoked by S2 of the conflict condition in either controls or patients. Compared with control group, N270 latency was significantly prolonged and the amplitude decreased in the patient group. However, the peak latency and amplitude of P300 were not changed significantly in patient group. ConclusionChildren with benign epilepsy with centro-temporal spikes as a group show cognitive function impairment. Conflict negative N270 can be employed as a method for evaluating cognitive disturbance, which seems subtler than P300 in detecting mild cognitive function impairment.