Assessment of Clinical Features and Higher Brain Dysfunction in Anti-NMDA Receptor Encephalitis / The Japanese Journal of Rehabilitation Medicine

　We report five cases of anti-<i>N</i>-methyl-D-aspartate receptor (NMDAR) encephalitis. Five women (27-38 years), Who-presented with psychiatric symptoms, neurological complications, and decreased consciousness, were diagnosed with anti-NMDAR encephalitis after testing positive for serum anti-NMDAR antibodies. The mean（±SD）for hospitalization duration was 272.4（±144.8)days. All patients presented with respiratory failure due to central hypoventilation and required mechanical ventilation for 50.2（±13.1）days on average. Four patients showed no abnormal findings upon brain MRI, one showed high intensity lesions in the right temporal cortex and bilaterally in the hippocampus on T2 weighted images. Higher brain function assessment revealed an overall decrease in intelligence, attention, memory, and executive function in all patients. Temporal assessments revealed progressive improvement in these dysfunctions over several years. Four patients presented with deep venous thrombosis, articular contracture, ectopic ossification, and compression paralysis during the first immobility episode. Two had severely impaired communication and ability to perform activities of daily living when admitted for rehabilitation. However, eventually all the patients attained a premorbid state.<br>　Anti-NMDAR encephalitis possibly results from reversible synaptic dysfunction；therefore, it has a better functional prognosis compared with classical limbic encephalitis and other paraneoplastic neurologic syndromes. Previous studies found abnormalities in the limbic area on MRI in about 25％ of patients, although other findings were non-specific. Prevention of disuse syndrome due to prolonged immobility is important in acute phase rehabilitation. Our study shows that long-term temporal assessments of higher brain function are necessary and useful in the chronic stage.

Glial fibrillary acidic protein mutation in a Chinese girl with infantile Alexander disease / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To investigate the molecular basis of infantile Alexander disease in a Chinese patient, which may yield useful information for further genetic counseling.</p><p><b>METHODS</b>DNA sequencing analysis and restriction endonuclease analysis were used to detect the mutation of glial fibrillary acidic protein (GFAP) gene in a patient with clinically diagnosed Alexander disease, in her parents and in 50 healthy controls.</p><p><b>RESULTS</b>A 249C>T (R79C) mutation was identified in the exon 1 of the GFAP gene but not in her parents and the controls.</p><p><b>CONCLUSION</b>The study on mutation of GFAP gene in Chinese patients with Alexander disease has never been reported previously. The mutation analysis of GFAP gene can provide valuable information for the diagnosis of Alexander disease and can serve as a reliable method of prenatal diagnosis for the family.</p>