HLA-DRB1*15 association with multiple sclerosis is confirmed in a multigenerational Italian family.

Environmental and genetic factors seem to play a pathogenetic role in multiple sclerosis (MS). The genetic component is partly suggested by familial aggregation of cases; however, MS families with affected subjects over different generations have rarely been described. The aim of this study was to report clinical and genetic features of a multigenerational MS family and to perform a review of the literature on this topic. We describe a multigenerational Italian family with six individuals affected by MS, showing different clinical and neuroradiological findings. HLA-DRB1* typing revealed the presence of the DRB1*15:01 allele in all the MS cases and in 4/5 non-affected subjects. Reports on six multigenerational MS families have previously been published, giving similar results. The HLA-DRB1*15:01 allele was confirmed to be linked to MS disease in this family; moreover, its presence in non-affected subjects suggests the involvement of other susceptibility factors in the development and expression of the disease, in accordance with the complex disease model now attributed to MS.

Effect of chronic treatment with recombinant interleukin-2 on the central nervous system of adult and old mice.

We have studied the effects of chronic treatment with recombinant interleukin-2 on the central nervous system of adult and old mice. Treatment with high doses of recombinant interleukin-2, on a schedule similar to that used in humans, was started at the age of 4 and 17 months, respectively, and ended 3 months later. At that time, all the mice were tested for acquisition of a passive-avoidance task and then sacrificed for histological examination. Three of the four groups (treated and control adults and control old mice) did not differ from one another in task performance or neuron density in frontal cortex, cerebellum, dentate gyrus or CA1-2, CA3, CA4 hippocampal areas. The old treated mice were unique in showing impairment of the mnesic functions and marked neuronal cell loss and degenerative changes limited to the hippocampal regions. Immunohistochemical studies did not show any significant amount of immunoglobulins in affected areas. Our results suggest that in old mice the impairment of the mnesic functions after recombinant interleukin-2 administration is due to hippocampal neuronal damage.

Epilepsy in institutionalized patients with encephalopathy: clinical aspects and nosological considerations.

This study was designed to correlate the prevalence of epilepsy with the severity and type of encephalopathy of 1,023 institutionalized patients and tentatively classify each according to the Proposals of the Commission on Classification and Terminology of the International League Against Epilepsy. Of this sample, 326 individuals were diagnosed with epilepsy. Sex distribution and mean age in the epilepsy and no epilepsy groups were similar, but degree of handicap was higher for those with epilepsy. Of these individuals 32.5% had a partial form. Of the 204 patients with generalized epilepsy (62.5%), 64 had a form with electroclinical characteristics of the idiopathic type; 57, a syndromic form (53 cases with a Lennox-Gastaut syndrome); and 83, a nonsyndromic form. Degree of handicap and frequency of seizures were lower in subjects with partial epilepsy and with those having electroclinical characteristics of the idiopathic type.

[Neuroradiologic study of partial temporal epilepsy]. / Studio neuroradiologico delle epilessie parziali temporali.

MR imaging is considered the neuroradiological procedure of choice for the study of intractable partial epileptic patients. The role of CT-scan is limited to the demonstration of calcific components of the lesion and of bony abnormalities of the adjacent skull. In this chapter we describe an MR protocol for the evaluation of temporal lobe epilepsy patient; moreover, here there are described neuroradiological characteristics (MR and CT) of the more frequent temporal lobe lesions.

Obstructive sleep apnea in the Rubinstein-Taybi syndrome.

The Rubinstein-Taybi syndrome is characterized by a pattern of malformations including broad thumbs and big toes, microcephaly, facial dysmorphism, small stature, and mental retardation. Obstructive sleep apnea (OSA), has been described in several facial or skeletal malformations, but never in the Rubinstein-Taybi syndrome. We studied a 9-year-old boy, previously diagnosed as having the Rubinstein-Taybi syndrome and affected by severe OSA, as documented by polysomnography. He manifested the habitual and heavy snoring with breathing difficulties at night, and excessive daytime sleepiness. Short neck and obesity were important factors for the severity of the syndrome. Continuous positive airway pressure was not tolerated and weight loss was the only possible treatment, as upper airway surgery was not indicated by cephalometric, otolaryngologic or clinical results.

An unusual case with relapsing neuromyelitis optica associated with undifferentiated connective tissue disease.

A case is presented with attacks of optic neuritis followed by severe myelitis 15 years later, in coincidence with a severe stressful life event. This female patient was also affected by undifferentiated connective tissue disease. This case presents some unusual and atypical findings such as: the association of a relapsing neuromyelitis optica with an undifferentiated connective tissue disease, a very long interval between optic neuritis and myelitis, and the important role of a stressful event in developing a relapse.