The role of clinical and neuroimaging features in the diagnosis of CADASIL.

Background: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is the most common familial cerebral small vessel disease, caused by NOTCH3 gene mutations. The aim of our study was to identify clinical and neuroradiological features which would be useful in identifying which patients presenting with lacunar stroke and TIA are likely to have CADASIL.

Methods: Patients with lacunar stroke or TIA were included in the present study.

Clinical Pregenetic Screening for Stroke Monogenic Diseases: Results From Lombardia GENS Registry.

Background And Purpose: Lombardia GENS is a multicentre prospective study aimed at diagnosing 5 single-gene disorders associated with stroke (cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy, Fabry disease, MELAS [mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes], hereditary cerebral amyloid angiopathy, and Marfan syndrome) by applying diagnostic algorithms specific for each clinically suspected disease

Methods: We enrolled a consecutive series of patients with ischemic or hemorrhagic stroke or transient ischemic attack admitted in stroke units in the Lombardia region participating in the project. Patients were defined as probable when presenting with stroke or transient ischemic attack of unknown etiopathogenic causes, or in the presence of <3 conventional vascular risk factors or young age at onset, or positive familial history or of specific clinical features. Patients fulfilling diagnostic algorithms specific for each monogenic disease (suspected) were referred for genetic analysis.

Neurological disorders and celiac disease.

Celiac disease (CD) determines neurologic manifestations in 10% of all CD patients. We describe the most common clinical manifestations as cerebellar ataxia, gluten encephalopathy, multiple sclerosis, peripheral neuropathies, sensorineural hearing loss, epilepsy, headache, depression, cognitive deficiencies and other less described clinical conditions. Our aim is to perform, as more as possible, a review about the most recent update on the topics in international literature.

POLG1 mutations and stroke like episodes: a distinct clinical entity rather than an atypical MELAS syndrome.

Background: POLG1 mutations have been associated with MELAS-like phenotypes. However given several clinical differences it is unknown whether POLG1 mutations are possible causes of MELAS or give raise to a distinct clinical and genetic entity, named POLG1-associated encephalopathy.

Case Presentation: We describe a 74 years old man carrying POLG1 mutations presenting with strokes, myopathy and ragged red fibers with some atypical aspects for MELAS such as late onset, lack of cerebral calcification and presence of frontal and occipital MRI lesions better consistent with the POLG associated-encephalopathy spectrum.

A randomized trial on the treatment of the first epileptic seizure. Scientific background, rationale, study design and protocol. First Seizure Trial Group (FIR.S.T. Group).

Observational studies suggest that the sooner treatment is started after the onset of seizures the better is the outcome of the disease. However, when to start antiepileptic treatment is still debated and this may explain the different behaviour of practising physicians. For these reasons, a multicenter randomized controlled trial comparing the treatment of the first seizure and the treatment of the recurrences (the two most common strategies in clinical practice) has been started in Italy.

Incidence and survival of brain tumors: a population-based study.

Since 1976 the Lombardy Cancer Registry (RTL) has recorded all malignant tumors and the benign tumors of the nervous system, bladder and liver occurring in the Varese province. The aims of this report are: to describe age-specific incidence rates of the different oncotypes of primary nervous system tumors (PNSTs) and to analyze the duration of survival of the patients according to the histotype of the neoplasm. From 1976 to 1981, the RTL recorded 498 PNST: 213 tumors of glial origin, 132 tumors of mesodermal tissues, 15 tumors of multipotential cell origin, 37 tumors of nerve roots, 8 of vascular origin, and 54 PNST in which the histotype was not specified.

The Multiple Sclerosis Cooperative Etiological Study in Italy: preliminary analysis of CSF findings.

295 newly diagnosed Multiple Sclerosis (MS) patients were investigated for interdependence of CSF abnormalities: leukocyte count, CSF/serum albumin ratio, CSF IgG index and intrathecal synthesis of oligoclonal IgG. Only 7% of patients had no CSF abnormality. The most frequent abnormal finding was the presence of intrathecal synthesis of oligoclonal IgG.

Gliomas and occupational exposure to carcinogens: case-control study.

Patients with gliomas of the central nervous system hospitalized during the period January 1979--March 1980 at the Neurological Institute C. Besta of Milan were compared with controls admitted to the Institute in the same period for nonneoplastic neurologic diseases or benign tumors. The comparison was based on occupational history, smoking habits, and alcohol consumption.

Electrophysiological study of subjects occupationally exposed to lead and with low levels of lead poisoning.

The relationship between the length of exposure to lead, blood lead level (PbB), and peripheral nerve damage in a population occupationally exposed to low lead levels was evaluated. Sixty-two foundry workers were studied whose length of exposure ranged from 5 months to 10 a; their mean PbB in the last 2 a had not exceeded 50 microgram/100 ml (2.4 mumol/l).

Electrophysiologic changes in workers with "low" blood lead levels.

In spite of numerous studies, the minimum level of lead exposure at which "sub-clinical" electrophysiologic abnormalities appear is still under discussion. Furthermore, it has not been clarified whether the electrophysiologic changes are directly related to PbB levels or to duration of exposure. This study was conducted on a group of 62 subjects occupationally exposed to lead with average blood lead levels below 50 microgram/100 ml and durations of exposure of less than 10 years.

Relationship between clinical and electrophysiological findings and indicators of heavy exposure to 2,3,7,8-tetrachlorodibenzo-dioxin.

In this study the prevalence rate of peripheral neuropathy in a population living in an area polluted with 2,3,7,8-tetrachlorodibenzo-dioxin (dioxin-TCDD) was determined. Of the 723 subjects invited to the first screening in 1977, 470 (65%) attended. At the second screening in 1978, of the 710 invited subjects, 319 (45%) attended.

Plasma levels of di-no-propylacetate and clonazepam in epileptic patients.

Plasma levels of DPA and CNP and associated antiepileptic drugs were measured in groups of respectively 106 and 30 epileptic patients aged from 3 to 49 years. A poor correlation between daily oral dose and plasma levels of both drug was observed when the whole group of patients was considered. A better correlation was seen in a group of adult patients who received DPA and PB.