Musolino R

Familial hemiplegic migraine type 2 is linked to 0.9Mb region on chromosome 1q23.

Familial hemiplegic migraine (FHM) is a rare autosomal dominant disorder characterized by episodes of transient hemiparesis followed by headache. Two chromosomal loci are associated to FHM: FHM1 on chromosome 19 and FHM2 on chromosome 1q21‐23. Mutations of the α‐1A subunit of the voltage gated calcium channel (CACNA1A) are responsible for FHM1. FHM2 critical region spans 28cM, hence hampering the identification of the responsible gene. Here, we report the FHM2 locus refining by linkage analysis on two large Italian families affected by pure FHM. The new critical region covers a small area of 0.9Mb in 1q23 and renders feasible a positional candidate approach. By mutation analysis, we excluded the calsequestrin and two potassium channel genes mapping within the narrowed FHM2 locus. Ann Neurol 2003

Salivary Phosphate-Binding Chewing Gum Reduces Hyperphosphatemia in Dialysis Patients

In uremic patients, hyperphosphatemia is associated with cardiovascular calcification and increased cardiovascular mortality. Despite the use of phosphate binders, only half of hemodialysis (HD) patients achieve recommended serum phosphate levels. A hyperphosphoric salivary content, which correlates linearly with serum phosphate, has been reported in HD patients. We hypothesized that binding salivary phosphate during periods of fasting in addition to using phosphate binders with meals could improve the treatment of hyperphosphatemia. We assessed the phosphate-binding capacity of the natural polymer chitosan by (31)P nuclear magnetic resonance and established that 10 and 20% (wt/vol) middle viscosity chitosan solutions bind 30 and 50% of the phosphate contained in PBS, respectively. Thirteen HD patients with serum phosphate levels >6.0 mg/dl despite treatment with sevelamer hydrochloride chewed 20 mg of chitosan-loaded chewing gum twice daily for 2 wk at fast in addition to their prescribed phosphate-binding regimen. Salivary phosphate and serum phosphate significantly decreased during the first week of chewing; by the end of 2 wk, salivary phosphate decreased 55% from baseline (73.21 +/- 19.19 to 33.19 +/- 6.53; P < 0.00001), and serum phosphate decreased 31% from baseline (7.60 +/- 0.91 to 5.25 +/- 0.89 mg/dl; P < 0.00001). Salivary phosphate returned to baseline by day 15 after discontinuing the chewing gum, whereas serum phosphate levels took 30 d to return to baseline. Parathyroid hormone and serum calcium concentrations were not affected by the gum. In conclusion, adding salivary phosphate binding to traditional phosphate binders could be a useful approach for improving treatment of hyperphosphatemia in HD patients.

PRES: posterior or potentially reversible encephalopathy syndrome?

Posterior reversible encephalopathy syndrome (PRES) is an acronym that identifies a new clinico-neuroradiologic entity occurring in association with different conditions. We report a patient with eclamptic encephalopathy whose clinico-radiological picture normalised after prompt treatment. We suggest defining this condition as potentially RES, to emphasise that reversibility is not spontaneous but is usually related to an adequate treatment, and that the posterior localisation of the lesions, even if constant, may not represent the most relevant finding in some patients.

Risk of recurrent cerebrovascular events in patients with cryptogenic stroke or transient ischemic attack and patent foramen ovale: The FORI (Foramen Ovale Registro Italiano) study

Background: The optimal management of patients with cryptogenic ischemic stroke found to have a patent foramen ovale (PFO) at diagnostic workup remains unclear. The aims of this observational multicenter study were to evaluate: (1) the risk of recurrent cerebrovascular events in patients with cryptogenic minor ischemic stroke or transient ischemic attack (TIA) and PFO who either underwent percutaneous PFO closure or received only medical treatment, and (2) the risk factors associated with recurrent events. Methods: Consecutive patients (aged 55 years or less) with first-ever cryptogenic minor ischemic stroke or TIA and PFO were recruited in 13 Italian hospitals between January 2006 and September 2007 and followed up for 2 years. Results: 238 patients were included in the study (mean age 42.2 ± 10.0 years; 118 males); 117 patients (49.2%) received only antithrombotic therapy while 121 patients underwent percutaneous PFO closure (50.8%). Stroke as the qualifying event was more common in the medical treatment group (p = 0.01). The presence of atrial septal aneurysm and evidence of 20 bubbles or more on transcranial Doppler were more common in the PFO closure group (p = 0.002 and 0.02). Eight patients (6.6%) experienced a nonfatal complication during PFO closure. At the 2-year follow-up, 17 recurrent events (TIA or stroke; 3.6% per year) were observed; 7 of these events (2.9% per year) occurred in the percutaneous PFO closure group and 10 events (4.2% per year) in the medical treatment group. The rate of recurrent stroke was 0.4% per year in patients who underwent percutaneous closure (1 event) and 3.4% per year in patients who received medical treatment (8 events). On multivariate analysis, percutaneous closure was not protective in preventing recurrent TIA or stroke (OR = 0.1, 95% CI = 0.02–1.5, p = 0.1), while it was barely protective in preventing recurrent stroke (OR = 0.1, 95% CI = 0.0–1.0, p = 0.053). Conclusions: The results of this observational, nonrandomized study suggest that PFO closure might be superior to medical therapy for the prevention of recurrent stroke. Periprocedural complications were the trade-off for this clinical benefit. Controlled randomized clinical trials comparing percutaneous closure with medical management are required.

Prevalence and Characteristics of Epilepsy in the Aeolian Islands

Summary:  Purpose: To estimate the prevalence and define the clinical characteristics of epileptic disorders in the 13,431 residents of the Sicilian Aeolian archipelago, on June 1, 1999.

Amyotrophic Lateral Sclerosis: An Epidemiological Study in the Province of Messina, Italy, 1976–1985

An epidemiological investigation of 41 subjects with amyotrophic lateral sclerosis observed in the Province of Messina during 1976-1985 was performed. The incidence was 0.61/100,000 and the prevalence 2.48/100,000 inhabitants. The illness was found to be prevalent in males. The atrophic type occurred in 17 subjects, the bulbar type in 23 cases and the pseudo-polyneuritic form in only one patient. The mean age on the onset was 57.29 +/- 10.55 years. The duration of the illness was significantly higher in patients with atrophic type (p less than 0.01). No significant difference between occupation and development of the disease was found. Among all patients 12.19% presented evidence of trauma, but traumatic events were equally present in a control group.

First-Ever Stroke Incidence and 30-Day Case Fatality in the Sicilian Aeolian Archipelago, Italy

Background and Purpose— Not many data on stroke epidemiology come from studies on islands. This is the first report on a Mediterranean archipelago population. Methods— Using recommended criteria, from July 1, 1999, to June 30, 2002, information was collected on first-ever stroke and 30-day case fatality in Aeolian island residents (13 431). Results— The overall crude incidence rate was 154 of 100 000 (95% CI, 118 to 197; 128 in men and 180 in women) or 180, 154, and 87, if adjusted to the Italian, European, and world populations, respectively. The 30-day case fatality rate was 24.2% (95% CI, 14.22 to 36.75). Conclusions— Besides genetic or dietary factors, our results may reflect local, limited possibilities of diagnosis and management for stroke patients.

Idiopathic familial trigeminal neuralgia: a case report

Trigeminal neuralgia (TN) is paroxysmal, lancinant pain often described as an “electric wave” by patients, with involvement of the divisions of the fifth cranial nerve. Demyelinating, compressive, ischaemic diseases are involved in the physiopathology of TN, but there are some cases without explanation. Familial TN (FTN) is a rare condition, about 1%–2% of all TN cases, while sporadic cases are the most common. To date, there have been about 126 reports of FTN. We describe the case of a 66-year-old man who had been complaining for 3 years of right-side paroxysmal lancinating pain in the second division of the fifth cranial nerve. A brain MRI with angiographic sequences did not show neurovascular conflicts or other pathological conditions. The patient had a family history of TN, which had been diagnosed in 3 other family members (father, sister and first cousin), who had undergone medical or surgical treatment for TN. There was no family history of hypertension, metabolic disorders, neurological or traumatic diseases. Animal studies have shown a probable involvement of genes codifying for calcium channels as the starting alterations in trigeminal excitability. Our FTN could be a good model to investigate the role of gene mutations in this condition.

Nocturnal Complex Partial Seizures Precipitated by REM Sleep

A 16-year-old patient presenting with complex partial seizures occurring in the transition from a REM period to wakefulness is described. His baseline EEG showed generalized and symmetrical slow spike and wave complexes, on a normal background activity, activated by NREM sleep. Polygraphic and videotape recordings, carried out for several nights, showed that after nearly each REM period, he would wake up briefly, presenting eye blinking followed by a burst of generalized hypersynchronous theta to start his seizures. These were characterized by moaning and autoaggressive behaviour, the ictal EEG showing generalized slow spike and wave complexes in the midst of several movement artifacts. At the end of each fit he fell back to REM sleep. Carbamazepine treatment completely resolved his symptoms, with full normalization of EEG activity.

Occurrence of uraemic autonomic dysfunction in relation to age

Abstract A battery of cardiovascular reflex tests were performed on 20 patients with chronic rena! failure on intermittent haemodialysis, to assess occurrence of parasympathetic and sympathetic abnormalities. Using age‐adjusted confidence limits, elderly uraemics showed more extensive parasympathetic and sympathetic dysfunction than middle‐aged patients. The results suggest that the autonomic nervous system in the elderly is more susceptible to uraemic toxins than in the middle aged. This should lead to better preventive and therapeutic strategies for older uraemics.