Search

We describe a rare case of multiple spinal meningiomas and evaluate the possible relationship with tamoxifen treatment. We observed a 74-year-old woman who showed a spastic paraparesis gradually developed in the last year. The patient underwent left mastectomy for a breast cancer ten years earlier and was treated with tamoxifen for four years after surgical intervention. Magnetic resonance imaging revealed three spinal meningiomas at C6-C7, D6-D7 and D9 levels. Taking in account the tumor-inducing properties of tamoxifen and the extreme rarity of multiple spinal meningiomas, we suggest that tamoxifen may be the cause play a role in the genesis of the spinal meningiomatosis in the observed patient. Therefore, we propose the long-term clinical and neurological surveillance of patients who assumed tamoxifen, even for a short time, in order to survey the possible appearance of secondary tumours.

Objective: Temporal intermittent rhythmic delta activity (TIRDA) is an EEG pattern characterized by sinusoidal trains of activity, ranging from 1 to 3.5 Hz, and well localized over the temporal regions. It is considered to be an indicator of temporal lobe epilepsy (TLE), but full agreement between different authors has still not been reached. The aim of this study was therefore to assess the role of TIRDA in localizing the epileptogenic zone, which was estimated using anatomo-electro-clinical correlations obtained from non-invasive pre-surgical investigations, in a large group of patients affected by drug-resistant partial epilepsy., Methods: The occurrence of TIRDA was investigated using a prolonged Video-EEG recording of 129 patients affected by drug-resistant partial epilepsy that underwent a non-invasive pre-surgical protocol. Patients were divided into 3 groups: TLE only, extratemporal epilepsy, and multilobar epilepsy including temporal lobe. According to the epileptogenic zone identified using anatomo-clinical-radiological correlations, 3 different subgroups of TLE were identified: mesial, lateral, and mesio-lateral. Statistical analysis was performed in order to evaluate the relationship between TIRDA and the epileptogenic zone, and neuroradiological, neuropathological, EEG interictal and ictal findings., Results: The pattern of TIRDA was observed in 52 out of the 129 (40.3%) patients studied. Significant correlations were found between TIRDA and: (i) mesial and mesio-lateral TLE; (ii) mesial temporal sclerosis; (iii) interictal epileptiform discharge localized over the anterior temporal regions; and (iv) 5-9 Hz temporal ictal discharge., Conclusions: Our research shows that TIRDA plays a role in localizing the epileptogenic zone, suggesting that this pattern might be considered as an EEG marker of an epileptogenesis that involves the mesial structures of the temporal lobe. However, further studies investigating the relationship between intracranial EEG monitoring and simultaneous scalp EEG recording are needed in order to confirm our findings and improve our understanding of the significance of TIRDA.

An epidemiological survey of Charcot-Marie-Tooth disease (CMT) was conducted in Molise, a central-southern region of Italy, from March 1998 to June 2000. Fifty-eight cases of CMT in 13 unrelated families were identified within the selected area. The prevalence of all subtypes of CMT was 17.5/100,000. All families underwent a bio-molecular analysis to disclose the duplication at gene locus 17p11.2 in order to ascertain the diagnosis of CMT type 1A. Our data revealed that 64% of all the observed patients had CMT1A, thus confirming the high prevalence of duplication of the 17p11.2 locus., (Copyright 2002 S. Karger AG, Basel)

Six families with SCA1 were studied. The clinical data on 35 patients are reported. Cerebellar and pyramidal system involvement was invariably found in association with brainstem, spinal cord and/or peripheral nervous system disorders. In our patients the clinical features appeared concordant when the patients with the same disease duration were compared. Previous reports of SCA1 families had shown great variability in clinical phenotype both interfamilial and intrafamilial. We suggest that the phenotype might appear more homogeneous if disease duration is taken into account.

A family with late-onset autosomal dominant pure cerebellar ataxia was studied both neurologically and genetically. Neuroimaging and electrophysiological results were in agreement with the clinical evidence showing involvement of the cerebellar system only, even many years after onset. No atrophy of inferior olives was observed by magnetic resonance imaging, while cerebellar atrophy was extremely marked. A very slow disease progression was observed in all patients. The disease can be differentiated from autosomal dominant olivo-ponto-cerebellar atrophies, and in particular from spinocerebellar ataxia type 1 mapping on chromosome 6p, which shows an early multisystemic involvement and a more rapid progression toward inability. A genetic study of the family with the 6p DNA marker D6S89 closely linked to the spinocerebellar ataxia type 1 locus was performed. Results showed significant exclusion of a linkage between the disease and the marker within a distance of 8.5% recombination, indicating that genetic heterogeneity underlies phenotypic differences.

Five families with late onset spinocerebellar ataxia (SCA) were studied. A high association was found between the disease and HLA. A stronger association results with a marker called D6S89. Clinical data of 26 patients and neuropathological study in two are reported. The clinical phenotypes of other HLA-linked SCA kindreds shows differences when comparison is made. The Authors suggest that the phenotype might appear more homogeneous if disease duration is taken into account.