Transcranial sonography in movement disorders: an interesting tool for diagnostic perspectives.

Transcranial sonography has become an important tool for the diagnosis of various movement disorders. In most patients with idiopathic Parkinson disease, a markedly hyperechogenic substantia nigra (SN) was detected on at least one side. We have highlighted the sonographic features that might help the differential diagnosis of PD and other movement disorders. Our investigation involved 30 patients (age 45-85 years) with idiopathic Parkinson disease, 2 multiple system atrophy, 3 progressive supranuclear palsy and 2 patients with restless legs syndrome. In accordance with several previous studies, we detected hyperechogenicity of the SN by TCS in 90% of patients with idiopathic Parkinson disease. Subjects with a marked severity disease had a larger extent of the hyperechogenic SN signal. All progressive supranuclear palsy patients had an enlarged third ventricle and, in two cases, we observed the presence of hyperechoic areas in the lentiform nucleus. This last ultrasonographic feature was also seen in our patients with multiple system atrophy. TCS abnormalities of the SN, midbrain raphe and basal ganglia are characteristics of several movement and affective disorders. These features are less easily detected by other techniques, such as CT and MRI, which enable the exclusion of structural lesions, such as tumours and multi-infarct disease, because the physical principle differs from other imaging methods.

Misdiagnosis of familial Mediterranean fever in patients with Anderson-Fabry disease.

Fabry disease (FD) is an underdiagnosed pathology due to its symptomatology that overlaps with various systemic and rheumatic disorders, including familial Mediterranean fever (FMF). We examined the Mediterranean fever (MEFV) and α-galactosidase A (GLA) genes, whose mutations are responsible for FMF and FD, respectively, in 42 unrelated patients diagnosed with FMF, which revealed significant ambiguity regarding some of the symptoms which are also present in FD. The objective of this study was to determine the spectrum of mutations present in these genes, in order to identify cases of mistaken diagnosis of FMF and/or missed diagnosis of FD. Ten out of 42 patients had one mutation in homozygosis or two different mutations in heterozygosis in the MEFV gene; 20/42 had a single heterozygous mutation, and 12/42 did not have genetic alterations in MEFV. The analysis of the GLA gene conducted on all the samples revealed that three subjects, and some members of their families, had two different exonic mutations associated with FD. Family studies allowed us to identify eight other cases of FD, bringing the total undiagnosed subjects to 11/53. Analyzing the MEFV and GLA genes in patients with clinical diagnoses of FMF proved to be fundamentally important for the reduction of diagnostic errors.

Immune-inflammatory responses and oxidative stress in Alzheimer's disease: therapeutic implications.

Alzheimer's disease (AD) is a heterogeneous and progressive neurodegenerative disease which in Western society mainly accounts for clinical dementia. AD has been linked to inflammation and oxidative stress. Neuro-pathological hallmarks are senile plaques, resulting from the accumulation of several proteins and an inflammatory reaction around deposits of amyloid, a fibrillar protein, Abeta, product of cleavage of a much larger protein, the beta-amyloid precursor protein (APP) and neurofibrillary tangles. Inflammation clearly occurs in pathologically vulnerable regions of AD and several inflammatory factors influencing AD development, i.e. environmental factors (pro-inflammatory phenotype) and/or genetic factors (pro-inflammatory genotype) have been described. Irrespective of the source and mechanisms that lead to the generation of reactive oxygen species, mammalian cells have developed highly regulated inducible defence systems, whose cytoprotective functions are essential in terms of cell survival. When appropriately activated, each one of these systems has the possibility to restore cellular homeostasis and rebalance redox equilibrium. Increasing evidence, support the notion that reduction of cellular expression and activity of antioxidant proteins and consequent augment of oxidative stress are fundamental causes for ageing processes and neurodegenerative diseases., including AD. The better understanding of different molecular and cellular inflammatory mechanisms is crucial for complete knowledge of AD pathophysiology, hence for its prevention and drug therapy. Accordingly, two lines of preventive therapeutics can be outlined, the first based on anti-inflammatory drugs, the second one on anti-oxidative properties.

Incidence, risk factors and short-term mortality of stroke in Vittoria, southern Italy.

We determined the incidence, risk factors, and short-term mortality of stroke in a well-defined area of southern Italy, i. e. the city of Vittoria, Sicily (58 833 inhabitants). The medical recores of the local hospitals and the outpatient files of the local neurologist referring to the calendar year 1991 were retrospectively investigated. Stroke was defined according to standard criteria and classified as first-ever (FE) and recurrent (R). Risk factors for stroke were diagnosed from medical history, laboratory and instrumental findings, and in the presence of specific treatments. Short-term mortality was assessed as 30-day case-fatality rate. The sample included 120 cases (61 men) aged 34-94 years, 89 of whom (48 men) had a FE stroke. The overall annual crude incidence rate of FE stroke was 165.3 per 100 000 (men, 178.4; women 152.2); for FE and R stroke together it was 222.9 (men, 226.8; women 219.1). The standardized rates were 245.3 (FE stroke) and 321.9 (FE and R stroke). The age-specific rates for FE stroke were 9.4 (<55 years), 262.2 (55-64 years), 645.2 (65-74 years), 2019.7 (75-84 years), and 3246.8 (> or =85 years). The corresponding values for FE and R stroke were 11.7, 412.0, 887.1, 2565.5, and 4220.8. In patients with FE stroke, cerebral infarction was the main type. Hypertension, diabetes and cardiac disorders were the commonest risk factors, with similar distribution among FE and R stroke. The 30-day case-fatality rate was 28% for FE and R stroke and 38% for FE stroke. Compared to other reports, the incidence of stroke in Vittoria was lower in the youngest but higher in the oldest age groups. Although the small sample size and possibility of misdiagnoses may partly explain our findings, the roles of different dietary, social, and genetic factors in the local population warrant investigation.

Stuporous states or coma induced by the rapid administration of high doses of sodium valproate.

7 cases of stuporous states or coma induced in epileptic subjects by the rapid administration of high doses of sodium valproate are described. Progressive impairment of consciousness began 2 to 7 days after the administration of sodium valproate and induced a slowing of background EEG activity until the delta activity became of high amplitude, generalized, continuous and areactive. The authors believe that the impairment of consciousness in their patients was related to the rapid administration of high doses and a direct intrinsic action of sodium valproate on the brain, as no increase in plasma levels of the drugs in association with valproate was observed.

[Longitudinal study of epilepsies occurring during adolescence (author's transl)]. / Etude longitudinale des epilepsies survenant dans l'adolescence.

A total of 216 cases of epilepsies occurring during adolescence (11-18 years) were studied for a period of 10 years mean. The frequency of primary generalized epilepsies (PGE) was very high: 3/4 of the cases. Adolescence epilepsies were, in a decreasing order of frequency, PGE with grand mal seizures, partial epilepsies (PE) with complex semiology seizures, PE with elementary semiology seizures, PGE with petit mal seizures and secondary generalized epilepsies. Family antecedents could be found in PGE. Organic lesions were often observed in PE with complex semiology seizures, but never in PE with elementary semiology seizures. The seizures evolved as follows: disappearance for most of the PGE; sometimes good evolution in PE with elementary semiology seizures; more rarely good evolution in PE with complex semiology seizures. The epilepsies with a good evolution represent 80% of the epilepsies occurring during adolescence.

[Longitudinal study of epilepsies occurring in adults (author's transl)]. / Etude longitudinale des epilepsies survenant chez l'adulte.

In 24% of epileptic patients the first seizure occurred between 19 and 64 years. A longitudinal study was undertaken on data from 152 subjects, ranged according to the international classification. For each group the following parameters were considered: age at onset of the first seizure; familial and individual antecedents; existence and modification in time of epileptogenic factors and of clinical and electrical interictal semiology. It was noted in particular that the occurrence of illness decreased as subjects grew older; that partial epilepsies (about 2/3 of the cases) were more common than generalized ones; that individual antecedents indicating a lesional aetiology were very frequent; that primary generalized epilepsies had a relatively favourable course, contrary to the partial epilepsies (and particularly those with complex semiological seizures). The results are discussed with reference to statistical data in the literature.

[Partial seizures with affective symptomatology of fear in children]. / Crisi parziali con sintomatologia affettiva di paura nel bambino.

We describe 11 children suffering from parital seizures with affective symptomatology of fear. These subjects are typified by a very high percentage of pathological antecedents and by a lack of familial epilepsy. In 8 of 11 cases, the seizures with fear symptomatology are associated with localized or unilateral myoclonus. Etiological connection is present in 82% of the subjects. Long-term evolution is differentiated, probably because of the association of motor manifestations and or different form of seizures to this of epilepsy. In addition, the occurrance of temporal right focus on the EEG is very high, which could probably be correlated to the right hemisphere's specialization for the modulation of the affective sphere.

[Epilepsy in advanced age]. / Le epilessie della terza età.

A study was performed on 174 epileptic patients aged of 65 years and over. This semeiology of seizures of 156 patients can be categorized according to the international Classification of the epilepsies. Correlations were made between epilepsy form and scan. We had found that majority (74%) of the patients manifested parital seizures either with elementary or a complex symptomatology. The generalized tonico-clonic seizures of the aged were less frequent: 9% consisted of partial seizures secondarily generalized, 1% of Grand Mal primary generalized epilepsies and 16% of secondary generalized epilepsies due to a cerebral involution which can be only detectable with CT-scan. By means of CT-scan we were able to define the true etiology in 63% of our patients.

[Electroclinical and CAT-encephalographic symptomatology of lipomas of the corpus callosum]. / Semeiologia elettroclinica e taco-encefalografica dei lipomi del corpo calloso.

An analysis of four cases with lipomas of the corpus callosum with epilepsy and of some data in the literature has led to the following conclusions: 1) Epilepsy: a nearly constant feature is often severe always partial and begins before the age of fifteen; 2) Pathophysiology of the seizures: abandoning the classic theory that they depend upon an infiltration of the cingulate gyri by fibrous tissue growing out from the capsule of the lipoma, the authors consider that the essential mechanism is represented by the interhemispheric disconnection. This latter is responsible for a facilitory and disinhibitory action which would favour the appearance of seizures under the effects of an epileptogenic lesion, the effect of which would remain sub-threshold in the presence of an intact corpus callosum, playing its normal inhibitory role.

[Cerebellar hematomas and infarcts. Clinical and cerebral computerized tomographic findings]. / Ematomi ed infarti cerebellari. Apporto clinico e tacoencefalografico.

Vascular accidents of the cerebellum are traditionally considered to be very difficult to diagnose, and as spontaneously following a fatal course without neurosurgical decompressive intervention. Such views are undoubtedly due to the fact that usually only the most serious vascular accidents of the cerebellum are diagnosed prior to surgical intervention or autopsy. Following 12 observations (2 hematomas and 5 infarcts) using computerized tomography, which facilitates the diagnosis of less severe forms, the authors suggest that some changes are necessary in the classic view of these disorders. From a clinical point of view, they point out the consistency of a cerebellar syndrome in their series and the subtlety of disturbances of consciousness. They also stress the possibility, verified in 10 these 12 cases, of a favourable outcome with medical treatment alone. The CT scan not only facilitates the diagnosis of vascular accidents of cerebellum, but can distinguish between hematomas and infarcts (the incidence of the latter has certainly been underestimated until now). Furthermore, the CT scan allows direct clinico-anatomical surveillance of the lesion, and equally importantly of its possible obstructing effects on the ventricular system.