Aicardi-Goutières syndrome: differential diagnosis and aetiopathogenesis.

Aicardi-Goutières syndrome (AGS) is a progressive encephalopathy with onset in the first year of life and a recessive autosomal pattern of inheritance. The syndrome is characterised by acquired microcephaly, basal ganglia calcifications, white matter abnormalities, chronic cerebrospinal fluid (CSF) lymphocytosis and raised interferon-alpha (INF-alpha) in the CSF. AGS is diagnosed on the basis of a clinical picture characterised by microcephaly and by the onset of encephalopathy associated with severe psychomotor delay, spasticity and extrapyramidal signs.

Memory disturbances and temporal lobe epilepsy simulating Alzheimer's disease: a case report.

We report the case of a patient presenting with recurrent transient dyscognitive episodes and memory disturbances, simulating the clinical picture of early Alzheimer's disease (AD). Neuropsychological examination showed only episodic memory impairment without significant progression over time in the absence of any other cognitive dysfunctions; magnetic resonance imaging failed to show selective temporal atrophy. The suspicion that a nocturnal epileptic seizure had occurred arose on the basis of a clinical report of tongue biting and the findings of sharp waves over the temporal region on standard EEG.

Report of eight new cases of hypnic headache and mini-review of the literature.

Hypnic headache is a rare condition first described by Raskin in 1988. This headache is not included in the first edition of the International Headache Society classification (IHC 1st Edition). We describe eight new Italian hypnic headache cases and consider our findings in the light of literature data.

Disease clustering: the example of ALS, PD, dementia and hereditary ataxias in Italy.

The "mini-epidemic" distribution of rare conditions (either sporadic, inherited or due to a transmissible agent) is frequently described as a cluster. Genetic abnormalities and environmental factors are usually investigated to explain the presence of a disease cluster. We have reported a cluster of amyotrophic lateral sclerosis (ALS) cases in a small area of central Italy, where an identical SOD1 gene mutation was found both in familial ALS (FALS) cases and in one apparently sporadic ALS individuals.

Nitroglycerin induces hyperalgesia in rats--a time-course study.

Nitroglycerin is a nitric oxide (NO) donor which activates nuclei involved in nociceptive transmission following systemic administration. The effect of nitroglycerin on the nociceptive threshold was studied in rats by means of two experimental tests that explore different modalities of pain: the tail-flick test and the formalin test. Nitroglycerin induced a significant reduction in the latency of the tail flick 2 and 4 h after its administration.

A reliability study of impairment and disability scales for myasthenia gravis patients.

The authors developed two scales to be adopted for the evaluation of myasthenia gravis (MG) patients. The first scale (MG impairment scale) is based on objective patient evaluation and on patients' responses to standardized questions relating to the functioning of specific muscle groups. It consists of 13 items exploring strength and 10 items exploring fatigability.

Hallucinations and sleep-wake cycle in PD: a 24-hour continuous polysomnographic study.

Twenty-four-hour ambulatory polysomnography was performed in 20 patients with PD who were having visual hallucinations (12 men and 8 women, mean age 70 +/- 6 years). Visual hallucinations were clearly related to daytime NREM sleep or nocturnal REM sleep in 33% of the instances. The data reinforce the hypothesis that neural mechanisms implicated in generating sleep and, in particular, in dream imagery play a role in the occurrence of visual hallucinations in PD.

Visual acuity in the first two years of life in healthy term newborns: an experience with the teller acuity cards.

Teller Acuity Cards are a new "preferential looking" procedure for the evaluation of visual acuity in newborns and infants. We used this test to assess, longitudinally, visual acuity in 60 healthy term newborns followed up from birth to two years of age. In order to have a set of comparison parameters for use in studies of newborns at risk of developing visual system impairment, the relative maturational curve was plotted.

Cognitive impairment and central motor conduction time in chronic alcoholics.

The non-invasive technique of transcranial magnetic stimulation (TMS) was used in 62 chronic alcoholics to assess the functional status of descending motor pathways. The main aims of this study were: to investigate asymptomatic upper motor neuron dysfunction in alcoholics as well as to assess its relationship with parameters reflecting the intensity of exposure to alcohol; and to evaluate a possible relationship between central motor conduction time (CMCT) prolongation and neuropsychological measures of alcohol-related brain damage. Compared to control subjects, chronic alcoholics exhibited a significant prolongation of CMCT (23 out of 62 subjects).

Chronic alcoholism and the frontal lobe: which executive functions are imparied?

Objective: Over the last decade, various hypotheses have been advanced concerning the cognitive functions affected by chronic alcoholism. The aim of this study was to identify the pattern of executive function impairment in chronic alcoholism, shedding light on possible differences between specific functions related to the frontal lobe.

Methods: Twenty-two male alcoholics and 22 controls, matched for age, educational level and IQ, were enrolled in the study.

Pelizaeus-Merzbacher disease: electrophysiological study of two sibs with the classic form and of their relatives.

We examined two sibs with the classic form of Pelizaeus-Merzbacher disease (PMD) and their relatives. Electromyographic-electroneurographic studies and magnetic stimulation of motor pathways were performed. In both patients we found an absence of compound motor action potential (cMAP) after stimulation of the motor cortex and a normal conduction time by stimulating the cervical roots.

Neuropsychological changes after carotid endarterectomy.

Carotid endarterectomy (CEA), performed to prevent stroke, could lead to changes in cognitive functions. Sixty-four patients with severe carotid stenosis undergoing CEA treatment were evaluated by means of a detailed neuropsychological assessment before (baseline), from one to two weeks (1st follow up) after and 3 months (2nd follow up) after surgical operation. A significant post-CEA improvement was found in verbal memory and attention (p<0.

Vestibular evoked myogenic potentials: test-retest reliability.

Vestibular evoked myogenic potentials (VEMPs) are myogenic responses induced by stimulation of the saccular macula by intense sound stimuli. The responses are recordable from the sternocleidomastoid (SCM) muscles. We recorded VEMPs from normal subjects (up to three times in each subject) to identify: i) the best recording procedures, ii) the reliability, and iii) the normal limits for both individual point and test-retest evaluation.

Visual evoked potential abnormalities in dyslexic children.

Developmental reading disability (dyslexia) has traditionally been attributed to impaired linguistic skills. Recent psychophysical data suggest that dyslexia may be related to a visual perceptual deficit. A few visual evoked potential (VEP) studies have addressed this hypothesis, but their results are far from consistent.

Headache in the Diagnosis-Related Groups (DRG) era: management and appropriateness of admission.

Headache is an extremely common disorder which has a marked impact on the utilisation of healthcare resources and constitutes a considerable socio-economic burden. The related costs, both direct and indirect, are especially high in developed countries, since headache predominantly affects an economically-active section of the population. The Diagnosis-Related Groups (DRG) system, a method for reimbursing healthcare structures for patient admissions, was introduced in Italy in 1995.