Our demographic data provide new data on disability in patients with neuromyelitis optica, most of whom were receiving treatment.

Background: Neuromyelitis optica (NMO) is characterizedbyopticneuritisandlongitudinallyextensiveacutetransverse myelitis. The brain is generally considered healthy in NMO, though very recent studies have demonstrated that magnetic resonance imaging abnormalities may be observed in various brain regions of NMO patients. To date, cognitive functions have never been investigated in NMO.Objective: To investigate cognitive functions in a cohort of 30 patients with NMO.Design: Observational, prospective study. Patients:We studied 30 patients with NMO and compared them with 30 patients with multiple sclerosis and 30 healthy controls matched for age, sex, and educational level. Main Outcome Measure: We applied a French translation of the Brief Repeatable Battery of Neuropsychological Tests for Multiple Sclerosis and 3 additional tests.Results: Cognitive performance was significantly lower in the NMO and multiple sclerosis groups than in healthy controls for the 2-second (P Ͻ .001) and 3-second (P =.001) Paced Auditory Serial Addition Test, the digit symbol modality test (P=.005), word generation (P=.02), and forward (P=.002) and backward (P=.007) digit span test. We did not observe any difference in test performance between NMO and multiple sclerosis patients. We found no differences between the 3 groups for the other tests. We did not find any correlation between clinical, biological, or magnetic resonance imaging results and cognitive dysfunction.Conclusions: This study confirms the recent concept of a possible brain involvement in NMO. Additional studies are needed to confirm these initial results and to better understand the mechanisms of such abnormalities.

In contrast to the reported results in Asian opticospinal MS, we found no association between the DPB1*0501 allele and NMO in our Caucasian patients. Moreover, we suggest that NMO-IgG-positive patients could represent a distinct NMO group in terms of their genetic susceptibility.

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The antibody index has a very good specificity but only moderate sensitivity. Given the lack of consensual criteria for neuroborreliosis and the absence of a "gold standard" diagnostic test, we propose pragmatic diagnostic criteria for neuroborreliosis, namely the presence of four of the following five items: no past history of neuroborreliosis, positive CSF ELISA serology, positive anti-Borrelia antibody index, favorable outcome after specific antibiotic treatment, and no differential diagnosis. These new criteria will need to be tested in a larger, prospective cohort.

The information provided by this study helps to improve our understanding of the natural history of the disease and may help optimize the quality of care we can offer patients at the end of life.

Patients with p-NMO can present a diffuse inflammatory process on first brain MRI and have a longer time to disability than patients with a-NMO.

Frontotemporal dementia (FTD) refers to a disease spectrum including the behavioral variant FTD (bvFTD), primary progressive aphasia (PPA), progressive supranuclear palsy/corticobasal degeneration syndrome (PSP/CBDS), and FTD with amyotrophic lateral sclerosis (FTD-ALS). A GGGGCC expansion in C9ORF72 is a major cause of FTD and ALS. C9ORF72 was analyzed in 833 bvFTD, FTD-ALS, PPA, and PSP/CBDS probands; 202 patients from 151 families carried an expansion. C9ORF72 expansions were much more frequent in the large subgroup of patients with familial FTD-ALS (65.9%) than in those with pure FTD (12.8%); they were even more frequent than in familial pure ALS, according to estimated frequencies in the literature (23-50%). The frequency of carriers in non-familial FTD-ALS (12.7%) indicates that C9ORF72 should be analyzed even when family history is negative. Mutations were detected in 6.8% of PPA patients, and in 3.2% of patients with a clinical phenotype of PSP, thus enlarging the phenotype spectrum of C9ORF72. Onset was later in C9ORF72 (57.4 years, 95%CI: 55.9-56.1) than in MAPT patients (46.8, 95%CI: 43.0-50.6; p = 0.00001) and the same as in PGRN patients (59.6 years; 95%CI: 57.6-61.7; p = 0.4). ALS was more frequent in C9ORF72 than in MAPT and PGRN patients; onset before age 50 and parkinsonism were indicative of MAPT mutations, whereas hallucinations were indicative of PGRN mutations; prioritization of genetic testing is thus possible. Penetrance was age- and gender-dependent: by age 50, 78% of male carriers were symptomatic, but only 52% of females. This can also guide genetic testing and counseling. A flowchart for genetic testing is thus proposed.