Homologous HSV1 and alpha-synuclein peptides stimulate a T cell response in Parkinson's disease.

Environmental factors are implicated in the development of Parkinson's disease (PD). The aim of this study is to investigate the role of cell-mediated immunity upon a specific immune-stimulation with HSV-1 and human alpha-synuclein homologues peptides by using the intracellular cytokine method on Parkinson's patients and healthy controls. The study showed, for the first time, a specific response to TNF-α CD8, CD4 and NK cells after stimulation in PD patients. Our data show a possible role of the immune system in the pathogenesis of Parkinson's disease, and that HSV-1 infections may lead to a progression of the disease.

Mitochondrial DNA haplogroups may influence Fabry disease phenotype.

While the genetic origin of Fabry disease (FD) is well known, it is still unclear why the disease presents a wide heterogeneity of clinical presentation and progression, even within the same family. Emerging observations reveal that mitochondrial impairment and oxidative stress may be implicated in the pathogenesis of FD. To investigate if specific genetic polymorphisms within the mitochondrial genome (mtDNA) could act as susceptibility factors and contribute to the clinical expression of FD, we have genotyped European mtDNA haplogroups in 77 Italian FD patients and 151 healthy controls. Haplogroups H and I, and haplogroup cluster HV were significantly more frequent in patients than controls. However, no correlation with gender, age of onset, organ involvement was observed. Our study seems to provide some evidence of a contribution of mitochondrial variation in FD pathogenesis, at least in Italy.

Male longevity in Sardinia, a review of historical sources supporting a causal link with dietary factors.

The identification of a hot spot of exceptional longevity, the Longevity Blue Zone (LBZ), in the mountain population of Sardinia has aroused considerable interest toward its traditional food as one of the potential causal factors. This preliminary study on the traditional Sardinian diet has been supported by the literature available, which has been carefully reviewed and compared. Up to a short time ago, the LBZ population depended mostly upon livestock rearing, and consumption of animal-derived foods was relatively higher than in the rest of the island. The nutrition transition (NT) in urbanized and lowland areas began in the mid-1950s, fueled by economic development, whereas in the LBZ it started later owing to prolonged resistance to change by a society organized around a rather efficient pastoral economy. Even nowadays a large proportion of the population in this area still follows the traditional diet based on cereal-derived foods and dairy products. The LBZ cohorts comprising individuals who were of a mature age when NT began may have benefited both from the high-quality, albeit rather monotonous, traditional diet to which they had been exposed most of their life and from the transitional diet, which introduced positive changes such as more variety, increased consumption of fruits and vegetables and moderate meat intake. It could be speculated that these changes may have brought substantial health benefits to this particular aging group, which was in need of nutrient-rich food at this specific time in life, thereby resulting in a decreased mortality risk and, in turn, life-span extension.

Cardiac side effects of phenytoin and carbamazepine. A dose-related phenomenon?

Three patients with dystrophia myotonica and echocardiographic signs of subclinical cardiopathy had cardiac side effects during oral treatment with phenytoin sodium or carbamazepine. These side effects were dose related: ventricular tachycardia appeared at a toxic serum phenytoin level in one patient and disappeared as the concentration fell within the therapeutic range, and atrioventricular block grade 1 developed in two patients at low serum carbamazepine levels, its severity increasing with the drug level. Given the risk of dangerous side effects, cardiac status needs to be carefully assessed before administration of phenytoin or carbamazepine in the treatment of dystrophia myotonica.

Fatal hyperpyrexia after withdrawal of levodopa.

We studied a patient affected with idiopathic Parkinson's disease and levodopa-induced dyskinesias. Fatal hyperpyrexia followed simultaneous levodopa withdrawal and a decrease in the dosage of diphenhydramine. The clinical features were those of the neuroleptic malignant syndrome. The rapid decrease in dopaminergic activity may have been important in causing the syndrome.

Relationship between Meige syndrome and alpha-methyldopa-induced parkinsonism.

We studied two patients with Meige syndrome who developed alpha-methyldopa-induced parkinsonism. Opposite responses of parkinsonian and dystonic symptoms to antiparkinson drugs in some cases suggest a functionally reciprocal relationship between these disorders.

Treatment of cerebellar tremors with carbamazepine: a controlled trial with long-term follow-up.

We studied the effects of carbamazepine (CBZ) (400 and 600 mg per day) in 10 patients with cerebellar tremors in a single-blind manner. All patients improved on a clinical rating scale and by accelerometric recording; there was no improvement with placebo. Our data suggest that CBZ may be a valuable drug in cerebellar tremors.

Brain interstitial fluid collected through implanted tissue cages.

The physicochemical properties of the whole-brain interstitial fluid (IF) are unknown. A volume of whole-brain IF sufficient for analysis was obtained through a small, hollow, multiperforated polypropylene sphere implanted for 4-5 weeks into the dog brain parenchyma. The main physicochemical properties of the whole-brain IF were characterized, in comparison with the physicochemical properties of cerebrospinal fluid and blood/serum.

Efficacy of carbamazepine on cerebellar tremors in patients with superior cerebellar artery syndrome.

Three patients with postural and intention cerebellar tremor caused by a cerebellar infarction in the superior cerebellar artery distribution were studied; treatment with carbamazepine resulted in marked improvement.

Which syringomyelia is truly associated with multiple sclerosis?

Necrosis of the spinal cord within multiple sclerosis (MS) lesions was suggested as a putative cause of syringomyelic cavity development in MS. A number of evidences suggest however that mechanisms other than necrosis are pathogenetically relevant for cavity formation, possibly depending on the atypical topographical distribution of the demyelinative lesion and on the increased cerebrospinal fluid pressure into the central canal below the compression. Not coincidentally, the hypothesis of post-necrotic and ex-vacuo mechanisms leading to cavitation derives from Japanese studies where MS is characterised by high tissue destructive capability and, besides its rarity, has many differences from the more common Western MS type and similarities with the acute disseminated encephalomyelitis (ADEM). Our opinion is that different MS types (Asian and Western) are accompanied by nonuniform mechanisms of syrinx formation and that the Asian MS type shares common, post-necrotic mechanisms with ADEM.

Acquired ocular-motor apraxia and right-sided cortical angioma.

A case of acquired ocular-motor apraxia featured by failure in voluntary initiation of lid closure, horizontal and vertical eye movements is reported. Electrographic and neuropsychological assessment pointed out several signs referable to bilateral frontal and right parietal lobe involvement, confirmed by neuroradiological finding.

Distribution of diphenylhydantoin in the brain during experimental status epilepticus of the cat.

The distribution of diphenylhydantoin (PHT) (40 mg/kg i.p.) in the brain was investigated in cats with convulsive generalized (group 1) and focal penicillin-induced status epilepticus (group 2), and in controls. A significant increase in the amount of PHT entering the brain during the convulsive status was found, with peak brain levels at 45 min (12 +/- 3.2 micrograms/g vs. 6.0 +/- 0.8 in normal cats, P less than 0.05). In the focal status brain concentrations of PHT reached levels intermediate between controls and group 1 cats. At 15 min, elevated blood levels of the drug were paralleled by increased concentrations in the brain, whereas at 30 and 45 min other factors, such as changes in cerebral blood flow, cerebral pH, vascular resistance, metabolic derangement and blood-brain barrier disruption were presumably responsible for the altered brain PHT uptake. The relevance of these data to clinical practice is discussed, in relation to the treatment of human status epilepticus and the potentially neurotoxic effects of the drug.

Complicated optic atrophy (Bher's disease) associated with epilepsy and amino acid imbalance.

A case of Behr's disease (complicated optic atrophy) associated with epilepsy and with imbalance of the free amino acid pool in plasma and cerebrospinal fluid, quite similar to that identified in patients with hereditary ataxias, is reported. The latter finding stands for a closer correlation between the two clinical entities.

Failure of carbamazepine to prevent clonazepam withdrawal status epilepticus.

We describe two patients in whom clonazepam withdrawal status epilepticus occurred in spite of therapeutic levels of carbamazepine in plasma and cerebrospinal fluid. The failure of carbamazepine to prevent clonazepam withdrawal status epilepticus is discussed.

Neurological disorders associated with Mycoplasma pneumoniae infection.

Neurological syndromes caused by Mycoplasma pneumoniae (MP) infection are occasionally reported in adults, usually in the post-infectious period, and three computed tomography documented cases have recently appeared in this journal. Here we present the cases of three young women with recent respiratory tract infection caused by MP some weeks prior to neurological complication documented by magnetic resonance imaging. Two cases suffered from demyelinating disorders of the central nervous system (CNS). The other case had a middle cerebral artery thrombosis, a rare complication of MP infection. Another potential risk factor for stroke in the latter case was the use of oral contraceptives. Recent infection with MP is discussed as a risk factor for cerebrovascular disorders and CNS demyelinating diseases.

Eating seizures and distraction-arousal functions. A case study.

Reports of epileptic seizures evoked by eating are very scarce in the literature. A review of the reported cases suggests that various mechanisms may act as triggering factors in this form of reflex epilepsy. We studied a 17-year-old boy in whom the seizures precipitated by eating had been prevented by giving him some alerting stimuli during the meal. The attention-arousal coupling sustained by the meal seems to play a role in triggering the attacks.

Carbamazepine versus diphenylhydantoin in the treatment of myotonia.

A double-blind controlled trial was performed on 6 patients affected with Steinert's disease in order to evaluate the efficacy of two different dosages of diphenylhydantoin (PHT, 200 and 300 mg/day) and carbamazepine (CBZ, 600 and 800 mg/day) on the myotonic afterdischarge. Both dosages of PHT and CBZ induced a significant improvement of myotonia. For PHT a trend towards decreased efficacy is pointed out at toxic or at high dosages.

Long-term therapy with carbamazepine: effects on nerve conduction velocity.

Peripheral nerve function was evaluated in 30 epileptic patients on chronic therapy with carbamazepine (CBZ) and 20 healthy controls. The electrophysiological data indicated a mild progressive reduction of both motor and sensory conduction velocity in the patients on long-term treatment with the drug. The impairment of nerve function paralleled the duration of therapy (i.e. 1 through 3 years). CBZ plasma levels were constantly within the therapeutic range. Folic acid levels were below normal in about 50% of the subjects. In the absence of other evidence, the hypothesis cannot be excluded that folate deficiency may have played some role in the development of the peripheral nerve dysfunction.