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We report a patient with myoclonic epilepsy who underwent muscle biopsy for suspected mitochondrial disease (myoclonic epilepsy with ragged-red fibers, MERRF). In spite of normal histochemical studies and of the absence of a severe COX deficiency, the molecular analysis showed the common MERRF mutation (A8344G) in the tRNA(Lys) gene on mitochondrial DNA. The case serves to illustrate the importance of pursuing the proposed mitochondrial genetic abnormality, even in patients with normal biopsy findings.

The sensitivity of quantitative electroencephalogram (EEG) was compared with that of conventional EEG in patients with acute ischaemic stroke. In addition, a correlation between quantitative EEG data and computerized tomography (CT) scan findings was carried out for all the areas of lesion in order to reassess the actual role of EEG in the evaluation of stroke. Sixty-five patients were tested with conventional and quantitative EEG within 24 h from the onset of neurological symptoms, whereas CT scan was performed within 4 days from the onset of stroke. EEG was recorded from 19 electrodes placed upon the scalp according to the International 10-20 System. Spectral analysis was carried out on 30 artefact-free 4-sec epochs. For each channel absolute and relative power were calculated for the delta, theta, alpha and beta frequency bands and such data were successively represented in colour-coded maps. Ten patients with extensive lesions documented by CT scan were excluded. The results indicated that conventional EEG revealed abnormalities in 40 of 55 cases, while EEG mapping showed abnormalities in 46 of 55 cases: it showed focal abnormalities in five cases and nonfocal abnormalities in one of six cases which had appeared to be normal according to visual inspection of EEG. In a further 11 cases, where the conventional EEG revealed abnormalities in one hemisphere, the quantitative EEG and maps allowed to further localize abnormal activity in a more localized way. The sensitivity of both methods was higher for frontocentral, temporal and parieto-occipital cortical-subcortical infarctions than for basal ganglia and internal capsule lesions; however, quantitative EEG was more efficient for all areas of lesion in detecting cases that had appeared normal by visual inspection and was clearly superior in revealing focal abnormalities. When we considered the electrode related to which the maximum power of the delta frequency band is recorded, a fairly close correlation was found between the localization of the maximum delta power and the position of lesions documented by CT scan for all areas of lesion excepting those located in the striatocapsular area.

Purpose: Because several reports have described the relation between epilepsy and cardiac arrhythmias and suggest that changes in autonomic neural control of the heart could be involved in the pathogenesis of sudden unexplained death in patients with epilepsy, the aim of this study was to evaluate cardiac function in patients with temporal lobe epilepsy., Methods: Sixty-five patients with epilepsy were evaluated by simultaneous ambulatory 24-h EEG-ECG monitoring, and in 30 of these, power spectral analysis of relative-risk (RR) variability also was carried out, both in the supine position and in a passive tilt position at 60 degrees. The power spectrum of RR variability, the two major spectral components detectable at low frequency (LF) and at high frequency (HF), respectively, and the LF/HF ratio were calculated., Results: By EEG-ECG monitoring, we recorded six partial seizures, and in four cases, discharges were associated with sinus tachycardia. However, interictally the occurrence of ventricular and supraventricular arrhythmias was not different from that in normal subjects. The spectral analysis of RR variability, on the other hand, demonstrated in patients with epilepsy a significant decrease in the total RR variability and in both of its components (LF and HF) in the supine position, and of the LF/HF ratio in orthostatic position., Conclusions: These findings suggest that the spectral analysis of RR variability may detect disorders of autonomic cardiac control in patients with epilepsy, even in the absence of abnormal findings during ECG monitoring. This alteration, which is more severe in cases with right EEG focus, could play a role in the pathogenesis of cardiac arrhythmias.

This paper describes the clinical features of two patients with chronic renal failure and uremic anaemia treated with recombinant human erythropoietin (9000 I.U. subcutaneously subdivided in 3 times weekly at the end of haemodialysis treatment) who developed seizures and status epilepticus. This treatment has unequivocal benefits but in some patients has been accompanied by elevated blood pressure leading to hypertensive encephalopathy with seizures. In fact, the correction of the anaemia results in a rise in packed cell volume with a consequent increase in blood viscosity, predisposing to increased vascular resistance and the development of hypertension.

15 patients with chronic cerebrovascular disease were studied using carotid Doppler and B-mode echography, transcranial Doppler, EEG and clinical evaluation before and 3 and 6 months after treatment with mesoglycan sulphate at doses of 96 mg/day per os. A subjective improvement was reported by 7 out of 15 patients while no significant variations in Doppler, TCD, echographic and EEG data were observed. During treatment no side effects or laboratory abnormalities were found.

Cognitive disturbances are frequently encountered in advancing Parkinson's disease (PD). Typically there are visuo-spatial disorders, memory impairment and bradyphrenia, defined as 'subcortical dementia' to distinguish it from the dementia that occurs in Alzheimer's disease, where the most prominent dysfunctions are agnosia, apraxia and aphasia. An electrophysiological test to study cognitive processing is the P300 (or P3) of the Event Related Potentials; in particular the latency of the P3 seems to correlate with cognitive decline. Thirty patients affected with idiopathic PD were investigated using a classic auditory "oddball" paradigm (rare tone--"target"--3000 Hz, frequent tone--"non target"--1000 Hz; the patients were instructed to recognize and keep a mental count of the number of rare tones). Electrophysiological findings were compared with those obtained in twenty normal subjects, age and sex matched with the patient's group. The parameters of P300 were correlated with patient's age, duration of the disease, motor and cognitive impairment levels and L-Dopa therapy. The P300 was loss in 16.6% (5 p.) and delayed in 33.3% (10 p.). Significative correlations were found only with age and cognitive impairment scores, but not with other variables analyzed. These results suggest that P300 could be a useful test to identify demented patients among those with PD, despite different motor disabilities.

The development of REM latency in the first year of life was investigated in two groups of 10 infants each. While 10 infants were normal, the other 10 underwent continuous feeding for various gastrointestinal diseases. Each infant was continuously recorded polygraphically for 24 h. While younger infants (less than or equal to 3 months) manifested predominantly shorter REM latencies (less than or equal to 8 min), older infants (4-13 months) produced a mixed distribution of short and long REM latencies. The total distribution of the REM latencies appears to be bimodal with latencies either shorter than 8 min or longer than 16 min. It is only in the group of older infants that the temporal distribution of REM latencies constitutes a diurnal rhythm, with the longest latencies in the interval between 12:00 and 16:00 and the shortest between 4:00 and 8:00. In the group of older infants, REM latency also depends on the duration of prior wakefulness. Long REM latencies are significantly more often preceded by long episodes of wakefulness than are short REM latencies. The different feeding conditions had only a minor effect on REM latency.

Determination of plasma prolactin concentration every 2 h in twelve healthy elderly subjects, aged between 62 and 78, indicates that the secretory rhythm is not modified with age and that it remains synchronized with the sleep-wake cycle. The increase of awake time during the night in old age does not change substantially the rise of nocturnal prolactin levels. The 24-h profile of growth hormone is characterized by a frequent decrease or absence of sleep-related peaks in elderly subjects. This reduction of growth hormone nocturnal secretion does not seem secondary to an alteration in sleep structure.

The existence of sleep disorders was investigated in 643 healthy children of ages ranging from 3 to 14 years, resident in Latina, city of the central part of Italy.

This study was conducted on 15 outpatients with idiopathic Parkinson's disease, 10 on chronic levodopa therapy and 5 drug free, all complaining of painful syndromes. We investigated the perceptive and pain thresholds and the threshold of polysynaptic components of the blink reflex in patients and 8 controls. Our data indicate that as regards the perceptive, pain and R2, R3 thresholds, patients with and without levodopa therapy do not differ significantly from controls.

Spontaneous awakenings from sleep were studied in a group of 20 infants whose sleep-waking patterns were recorded polygraphically for 24 h. While 10 infants were orally fed the other 10 underwent continuous feeding for various gastrointestinal diseases. Spontaneous awakening from sleep was analysed with regard to the prior sleep state, age and feeding condition. Infants awoke preferentially out of REM sleep and less often out of non-REM sleep. The feeding condition had no significant influence on the distribution of awakenings. The propensity for REM awakenings was significantly greater than would have been expected according to the REM sleep amount. This tendency was more pronounced for younger (less than or equal to 3 months) than for older (greater than or equal to 4 months) infants. REM sleep episodes which were interrupted by awakenings were significantly shorter than uninterrupted ones, since awakenings occurred predominantly shortly after REM sleep onset. It is proposed that the specific pattern of brain activity during REM sleep facilitates the transition from sleep into the waking state, particularly in the youngest infants.

Nocturnal sleep was poligraphycally recorded in three male patients aged 54-67, with progressive supranuclear palsy (PSP). All patients suffered from insomnia. In case 1 REM sleep was markedly reduced and spindles were less numerous than in normal subjects. In cases 2 and 3, EEG patterns were not distinguishable from those observed when the patients were awake. Sleep, therefore, was recognized only by constant observation of the patients. As seen in the literature EEG changes during sleep can be correlated to the severity of the clinical picture and the stage of evolution of the disease. EEG patterns of sleep in PSP are similar to those reported in patients with presenile dementia.