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The clinical and genetic features of three non-Portuguese and non-Japanese patients with aprataxin gene mutations are reported. Patient 1 came from Italy and presented with typical ataxia with ocular motor apraxia (OMA). She was homozygous for the W279X nonsense mutation, which is associated with the Portuguese founding haplotype. Patients 2 and 3 were French siblings and did not present with either OMA or hypoalbuminemia. They were compound heterozygous for the nonsense W279X mutation and a missense K197Q mutation.

Background: There have been few epidemiologic studies on neuromyelitis optica (NMO) and none used the recent 2006 diagnostic criteria. Here we describe the clinical, laboratory, MRI, and disability course of NMO in a French cohort of 125 patients. Methods: We performed an observational, retrospective, multicenter study. Data were collected from September 2007 through August 2008, corresponding to the endpoint of the study. We identified 125 patients fulfilling the 2006 NMO criteria. Selection was made using hospital files and a specific clinical questionnaire for NMO. Results: Mean age at onset was 34.5 years (range 4–66) with a mean disease duration of 10 ± 7.8 years at the endpoint. The patients were mainly (87%) Caucasian, with a female:male ratio of 3:1. In 90% of cases, the association of optic neuritis, longitudinal extensive myelitis, and a Paty-negative initial brain MRI was sufficient to fulfill the supportive criteria. Eighty-eight percent of patients were treated with immunosuppressive therapies. Median delay from onset to Expanded Disability Status Scale (EDSS) score 4 was 7 years; score 6, 10 years; and score 7, 21 years. The first episode of myelitis was immediately followed by an EDSS score ≥4 in 37.3% of cases, and a severe residual visual loss was observed in 22% of patients after the first episode of optic neuritis. Multivariate analysis did not reveal any predictors of a poor evolution other than a high number of MRI brain lesions at diagnosis, which were predictive of a residual visual acuity ≤1/10. Conclusions: Our demographic data provide new data on disability in patients with neuromyelitis optica, most of whom were receiving treatment.

Background: No consensual criteria exist to diagnose neuroborreliosis. The intrathecal anti- Borrelia antibody index (AI) is a necessary criterion to diagnose neuroborreliosis in Europe, but not in the United States. Previous studies to determine the diagnostic value of the AI found a sensitivity ranging from 55% to 80%. However, these studies included only typical clinical cases of meningitis or meningoradiculitis, and none had a control group with CSF anti- Borrelia antibodies. Methods: We studied a sample of 123 consecutive patients with clinical signs of neurologic involvement and CSF anti- Borrelia antibodies. We determined the AI for all patients and a final diagnosis was made. Patients were then divided into three groups (neuroborreliosis, possible neuroborreliosis, control). Results: Thirty of the 40 patients with neuroborreliosis had a positive AI (AI sensitivity = 75%). Two of the 74 patients with another neurologic diagnosis had a positive AI (AI specificity = 97%). Conclusion: 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.

Subacute loss of vision accompanied by pain is most commonly due to some form of inflammatory optic neuropathy (ON), and may be the first symptom of multiple sclerosis (MS). ON may also be due to viral or bacterial infection or systemic diseases. Although ON is frequently limited to a single episode, some patients experience recurrent episodes. The name recently given to these recurrent episodes of inflammatory ON with a negative workup for MS or other causes of ON is relapsing inflammatory ON (RION).1 MRI scans are normal and oligoclonal bands are rarely found in the CSF. Some patients with an initial diagnosis of RION are, after several years of follow-up, diagnosed with neuromyelitis optica (NMO), due to the occurrence of one or more episodes of myelitis.2 Recently, a specific marker of NMO, named NMO antibody, was found.3 There is now evidence to suggest that patients who experience recurrent episodes of myelitis and are positive for NMO antibodies are at a high risk of developing NMO.4 A similar hypothesis could be applied to RION. In the first study on NMO antibodies, a positive result was found in 2 of 8 patients with RION.3 However, the …

A 31-year-old man with progressive right hemianopsia and Ollier disease (multiple enchondromatosis) underwent head CT and MRI (figure). Figure Intracranial enchondroma Large extra-axial tumor (arrow) from left clinoid demonstrates calcifications on CT (A), sagittal T1W (B), and transverse GRE (D) …