Familial cortical tremor, epilepsy, and mental retardation: a distinct clinical entity?

Objective: To describe a European family with cortical tremor, epilepsy, and mental retardation, the pedigree of which indicates an autosomal dominant inheritance of the disease.

Design: Clinical, laboratory, neurophysiological, and neuroimaging data were studied.

Setting: Institute for research on mental retardation.

Heart rate variability and apnea during sleep in Down's syndrome.

Autonomic system dysfunction has been reported to occur frequently in patients with Down's syndrome (DS) and is constituted mainly by an imbalance between the sympathetic and vagal systems. The analysis of heart rate variability (HRV) during sleep is a quantitative reliable method for studying such a mechanism, but it has not yet been extensively and adequately applied in DS. In this study, HRV during sleep was evaluated in seven DS patients and in six normal controls, by also controlling for the presence of sleep apnea or arousal.

Correlation dimension of EEG slow-wave activity during sleep in children and young adults.

In a recent work, the calculation of the correlation dimension (CD) of the profiles of EEG slow-wave activity during sleep in 7 young subjects, allowed us to conclude that sleep-regulation might be considered a deterministic non-linear process with an average dimension above 3. In this paper we report the results of the calculation of the CD of EEG slow-wave activity in 20 normal subjects (children and young adults) who slept in the laboratory for 3 consecutive nights. The results confirm that it is possible to calculate the CD in most normal profiles (33 out of 40) and to discriminate between chaos and noise.

Trisomy 12p and epilepsy with myoclonic absences.

We report the case of a 6-year-2-month-old female affected by trisomy 12p syndrome. Seizures were typical myoclonic absences from both the clinical and EEG points of view. Our patient and other sporadic reports in the literature seem to support the hypothesis that, at least in some cases, myoclonic absences can be a direct or indirect effect of a chromosomopathy.

Oral mucosal transudate testing for HIV-1 antibodies: a clinical update.

The HIV epidemic and the social and clinical responses to it have changed dramatically in recent years in ways that significantly affect the nursing profession. In scope, the HIV epidemic has broadened demographically and geographically, shifting the burden of the epidemic and continuing to place stress on our health care and social service delivery systems. During the past 2 years, there have been clinical advances in the ability to treat HIV disease as a more chronic, manageable condition, making it more important than ever for infected individuals to know their serostatus.

Respiratory patterns during sleep in Down's syndrome:importance of central apnoeas.

Obstructive sleep apnoea episodes have been reported repeatedly in Down's syndrome (DS) patients as a consequence of the presence of predisposing malformations or intercurrent pathology of the upper airways. There are no data on respiratory patterns of uncomplicated Down's syndrome subjects. In order to evaluate the eventual effects of central nervous system (CNS) impairment on respiration in DS, we studied the respiratory patterns during sleep of a group of 10 DS subjects, aged 8.

Signaling pathways that regulate specification of neurons in developing cerebral cortex.

The expression of the limbic system-associated membrane protein (LAMP), a marker of specific functional regions of the cerebral cortex, has been used to determine the environmental signals that regulate cortical regionalization. Transplant and cell culture studies have shown previously that the fate of precursor cells, based on LAMP expression, is amenable to regulation by exposure to novel environmental stimuli. This has been demonstrated in vitro to be dependent upon exposure to transforming factor-alpha and collagen type IV.

Chaotic behavior of EEG slow-wave activity during sleep.

The study of the dynamics of non-linear systems allows the evaluation of the correlation dimension which, in turn, provides an estimate of the number of variables needed to model the process. In such a view, the correlation dimension was calculated for the profiles of the EEG slow-wave activity during sleep obtained from 7 young normal controls and in their corresponding artificial stochastic signals. It was possible to evaluate the complexity of all the real profiles which exhibited an average dimension of 3.

Saethre-Chotzen syndrome: a clinical, EEG and neuroradiological study.

Saethre-Chotzen syndrome is a form of acrocephalosyndactyly with autosomal dominant inheritance, characterized by craniosynostosis, facial asymmetry, palpebral ptosis, deviated nasal septum, partial cutaneous syndactyly, and various skeletal abnormalities. We studied in detail the neurological, EEG, and neuroradiological features of a group of 11 (6 male, 5 female) patients with Saethre-Chotzen syndrome. Four subjects were affected by seizures; they had paroxysmal EEG abnormalities, and gross neuroimaging revealed destructive brain lesions or malformations.

Spike morphology in PTZ-induced generalized and cobalt-induced partial experimental epilepsy.

Interictal epileptiform EEG activity was recorded in 10 rats with pentylenetetrazol-induced generalized seizures and in 10 rats with cobalt-induced partial epilepsy. Thirty spikes were averaged for each rat, and morphological parameters of the average waveform (such as amplitude, duration, and 1st derivative of the rising and falling spike deflections, and sharpness at peak) were measured. Pentylenetetrazol rats showed significantly higher and longer spikes than cobalt animals with a faster 1st derivative of both deflections; sharpness at peak was also higher in this group.

Interferon alpha-2a treatment of relapsing-remitting multiple sclerosis: disease activity resumes after stopping treatment.

We evaluated the long-lasting effects of systemic high-dose recombinant interferon alpha-2a (rIFNA) in relapsing-remitting (RR) MS after discontinuing treatment in a single-blind randomized placebo-controlled trial with 20 RR clinically definite MS patients using either nine million IU intramuscular rIFNA (n = 12) or placebo (n = 8) every other day for 6 months. Follow-up continued for a further 6 months without IFN treatment. In rIFNA-treated patients, main outcome measures, significantly different from placebo during treatment, returned, after discontinuing treatment, to values similar to placebo or baseline.

Leigh syndrome and partial deficit of cytochrome c oxidase associated with epilepsia partialis continua.

Epilepsia partialis continua (EPC) has previously been reported in only two patients with Leigh syndrome (LS). We report here a subject in whom LS and partial deficit of cytochrome c oxidase (COX) were associated with EPC. Epilepsy in this subject appeared when neurologic impairment was clearly evident and MRI showed cortical lesions typically associated with congenital lactic acidosis.

Complementary distribution of collagen type IV and the epidermal growth factor receptor in the rat embryonic telencephalon.

We previously identified an interaction between collagen type IV and the EGF receptor that regulates the differentiation of a limbic cortical phenotype in vitro (Ferri and Levitt, 1995). In the present study, we map the expression of the EGF receptor and collagen type IV in the embryonic telencephalon of the rat. At embryonic day (E) II, the earliest age examined, both proteins are coexpressed throughout the ventricular zone in the cerebral wall; this zone remains immunoreactive throughout corticogenesis (E14-E19).

Environmental signals influence expression of a cortical areal phenotype in vitro independent of effects on progenitor cell proliferation.

We have shown previously that, in vitro, cortical progenitor cells isolated from specific locations of the cerebral wall can adopt area-specific fates, assayed by expression of the limbic system-associated membrane protein (LAMP; R. T. Ferri and P.

A new family with periventricular nodular heterotopia and peculiar dysmorphic features. A probable X-linked dominant trait.

Objective: To describe 3 sisters with brain periventricular heterotopia and peculiar dysmorphic features as a probable X-linked dominant trait.

Design: Clinical, laboratory, neurophysiological, and brain imaging data were studied.

Setting: Research institute for mental retardation.

Age-and height-dependent changes of amplitude and latency of somatosensory evoked potentials in children and young adults with Down's syndrome.

Middle-latency somatosensory evoked potentials (MLSEPs) were recorded from 19 scalp electrodes in 34 patients with Down's syndrome (DS) aged 7.4 to 35.7 years and in 16 normal control subjects aged 6.

Scalp topographic mapping of middle-latency somatosensory evoked potentials in normal aging and dementia.

Middle-latency somatosensory evoked potentials (MLSEPs) were recorded in four groups of subjects: 13 normal young controls (mean age, 17.9 years). 11 normal elderly (mean age, 66.

Topographic EEG mapping of 3/s spike-and-wave complexes during absence seizures.

Topographic color mapping has recently been introduced for the study of ictal EEG manifestations of absences. We recorded 2-4 3/s spike-and-wave (sw) bursts in 12 patients with absence epilepsy, and performed a spectral analysis of the EEG under baseline conditions and during the 2 sec preceding the 3/s sw bursts. An increase in delta and theta bands was found in preseizure conditions.

Age, sex and mental retardation related changes of brainstem auditory evoked potentials in Down's syndrome.

Brainstem auditory evoked potentials (BAEPs) were recorded in 51 Down's syndrome (DS) subjects and compared with those of 38 normal controls; the correlations between the BAEP measures and age, sex, and degree of mental retardation were then evaluated. The DS patients showed a significant reduction in wave V latency and amplitude and in I-III, III-V, and I-V interpeak intervals. An age-related shortening of the I-V interpeak interval found in DS patients was interpreted as being a result of changes in central inhibitory/excitatory mechanisms.

Clinical and neurophysiological aspects of epilepsy in subjects with autism and mental retardation.

Clinical and neurophysiological findings for 28 patients with mental retardation, autism, and epilepsy were described. Correct classification of seizure type and epileptic syndrome (when possible), etiology, severity of autism and epilepsy, EEG findings, and neuroimaging findings were given. No particular epileptic syndrome was found to be more frequently correlated to autism, severity of autism was not correlated with a more pronounced tendency to develop seizures, and females with autism were more frequently affected by seizures than were males.