A Case Report of Adult-Onset Alexander Disease with a Tumor-Like Lesion in the Lateral Ventricle.

Adult-onset Alexander disease (AOAD) is an autosomal dominant progressive astrogliopathy caused by pathogenic variants in glial fibrillary acidic protein (GFAP). Individuals with this disorder often present with a typical neuroradiologic pattern, including frontal white matter abnormality with contrast enhancement, atrophy and signal intensity changes of the medulla oblongata and upper cervical cord on MRI. Focal lesions are rarely seen in AOAD, which causes concern for primary malignancies. This study aimed to present the case of a 37-year-old male patient initially diagnosed with an astrocytoma in the lateral ventricle that was later identified as GFAP mutation-confirmed AOAD. GFAP sequencing revealed a heterogeneous missense mutation point c.236G>A. Hence, AOAD should be considered in patients with tumor-like lesion brain lesion in association with atrophy of medulla oblongata and upper cervical spinal cord, and frontal white matter abnormality with contrast enhancement.

Peripapillary and parafoveal vascular network assessment by optical coherence tomography angiography in aquaporin-4 antibody-positive neuromyelitis optica spectrum disorders.

BACKGROUND/AIMS: Current understanding of the alterations in the retinal vascular network in neuromyelitis optica spectrum disorders (NMOSDs) is limited. We aim to assess the peripapillary and parafoveal vessel density in aquaporin-4 antibody-positive NMOSD patients by optical coherence tomography (OCT) angiography. METHODS: A total of 55 aquaporin-4 antibody-positive NMOSD patients with or without a history of optic neuritis (ON) and 33 healthy controls underwent spectral domain OCT and OCT angiography. Clinical histories, Expanded Disability Status Scale score, visual functional system score (VFSS) and disease duration were collected. RESULTS: Peripapillary and parafoveal vessel density was significantly decreased in NMOSD eyes with or without a history of ON. The decrease in retinal vessel density could occur before ON and retinal nerve fibre layer (RNFL) atrophy. Peripapillary vessel density correlated well with the spectral domain OCT measurements and VFSS in NMOSD eyes with a history of ON. CONCLUSION: Subclinical primary retinal vasculopathy may occur in NMOSD prior to ON and RNFL atrophy. Peripapillary vessel density might be a sensitive predictor of visual outcomes in NMOSD patients with ON.

The clinical characteristics of AQP4 antibody positive NMO/SD in a large cohort of Chinese Han patients.

We aim to summarize the clinical features of AQP4-ab-positive NMO/SD in a large Chinese Han cohort. The clinical data of 145 AQP4-ab-seropositive patients was retrospectively reviewed. 55.9% (81/145) of the patients were defined as NMO while 39.3% (57/145) were defined as NMOSD according to the criteria established in 2006 and 2007. The mean onset age was 34.4years and the female to male ratio was 8.7:1. The median disease duration was 57months. The median of "time to second attack" and "time to develop NMO" was 7 and 13months respectively. Ratio of monophasic to relapsing was 1:7.1. Myelitis and optic neuritis (ON) were the most common manifestations at onset, followed by postrema syndrome. The median age of patients presenting with ON at disease onset was significantly younger than patients presenting with myelitis. Only 17.2% of the patients younger than 30years presented with longitudinally extensive transverse myelitis (LETM) at onset, while 55.6% of the patients over 30years presented with LETM at onset. The patients presenting with ON at disease onset all exhibited a relapsing course, had a higher probability of subsequent involvement of other CNS regions and developing into definite NMO over time compared with those with LETM as the first attack. AQP4-ab levels were higher in patients with circulating auto-antibodies such as ANA, SSA, anti-Ro-52, anti-dsDNA, anti-histone antibody, pANCA and SSB, and positively correlated with CSF protein concentrations.

The immune balance between memory and regulatory B cells in NMO and the changes of the balance after methylprednisolone or rituximab therapy.

We aim to explore the impacts of high dose methylprednisolone therapy (HDMT) and rituximab on circulating B cells in NMO patients. Twenty-two NMO patients in the acute relapse phase were treated with HDMT and 9 patients in the remission stage were treated with rituximab. The frequencies of circulating CD19(+)CD27(+) memory B cell (Bmem), CD19(+)CD24(high)CD38(high) regulatory B cell (Breg) and the B cell production of interleukin (IL)-10 and interferon (IFN)-γ were monitored by flow cytometry before and after the treatment. The frequencies of circulating Bregs and the B cell IL-10 production were significantly lower in NMO patients before HDMT compared to healthy controls. Two weeks' HDMT further reduced the frequencies of Bregs while increased the frequencies of Bmems, which steered the numerical balance between Bmem and Breg in favor of Bmem. Meanwhile, HDMT significantly inhibited the B cell IFN-γ expression. Rituximab exerted its effect through B cell elimination and subsequent B cell repopulation which was characterized by the predominance of Bregs, restored the numerical balance between Breg and Bmem back to an advantageous "Breg>Bmem" status. Therefore, HDMT and rituximab had basically different impacts on B cells in NMO.