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Summary: Purpose: To determine the incidence and the 30-day case fatality of status epilepticus (SE) in the adult resident population of the city of Bologna, Italy.Methods: Over a 1-year period (March 1, 1999 to February 29, 2000, all patients older than 20 years with SE were included. The case-finding method was based on (a) a prospective surveillance of all public general hospitals in the city by neurologic units, and (b) a review of all discharge codes concerning epilepsy.Results: The crude and standardized annual incidence rate of SE was 13.1 per 100,000 [95% confidence interval (CI), 9.5-17.5] and 10.7 (95% CI, 7.5-13.8). It was higher in the elderly (older than 60 years) than in young adults (26.2 vs. 5.2) and in women than in men (14.9 vs. 11.0). Acute symptomatic SE accounted for 48%, and a cerebrovascular pathology was the most frequently associated etiologic condition (41%). A history of seizures was reported in 39% of patients. The 30-day case fatality was 39% (33% excluding postanoxic patients).Conclusions: This study reports the first data on the epidemiology of SE in Italy. The incidence rate found in the population of Bologna is in the same range as that of the other European countries. The 30-day case fatality is higher than all the other population studies (both European and American), despite the broadly similar clinical features of patients. Indirect evidence suggests that some inaccurate patient management could have negatively influenced the outcome of SE.

Optic neuropathy is common in mitochondrial disorders, but poorly characterized in Friedreich's ataxia (FRDA), a recessive condition caused by lack of the mitochondrial protein frataxin. We investigated 26 molecularly confirmed FRDA patients by studying both anterior and posterior sections of the visual pathway using a new, integrated approach. This included visual field testing and optical coherence tomography (OCT), pattern visual evoked potentials (P-VEPs) and diffusion-weighted imaging. The latter was used to study optic radiation by calculating water apparent diffusion coefficients (ADC). All patients suffered optic nerve involvement with their disorder. Different patterns of visual field defects were observed and a variably reduced retinal nerve fiber layer thickness was seen by OCT in all cases. P-VEPs were abnormal in approximately half of the patients. Decreased visual acuity and temporal optic disc pallor were present in advanced stages of the disease, but only five patients were symptomatic. Two of these patients suffered a sudden loss of central vision, mimicking Leber's hereditary optic neuropathy (LHON), and of the other three symptomatic patients two were noted to be compound heterozygotes. ADC values of optic radiations in patients were significantly higher than controls (P < 0.01). Retinal nerve fiber layer thickness at OCT and P-VEPs correlated with age at onset and ICARS total score. ADC values correlated with age at onset, disease duration, GAA triplet expansion size, ICARS total score and P-VEPs. Visual pathway involvement is found consistently in FRDA, being previously underestimated, and we here document that it also involves the optic radiations. Occasional LHON-like cases may occur. However, optic neuropathy in FRDA substantially differs from classic mitochondrial optic neuropathies implying a different pathophysiology of visual system degeneration in this mitochondrial disease.

Neuroimaging evidence of microstructural changes consistent with neurodegeneration was found in the dentate nucleus (DN) and SCP of patients with familial essential tremor. This suggests that neurodegenerative pathology of cerebellar structures may play a role in essential tremor. Further studies are needed to assess the role of fractional anisotropy and mean diffusivity changes in DN and SCP in the differential diagnosis of essential tremor and Parkinson disease, which may present similar clinical signs at the onset of disease.