Correlation between clinical and molecular features in two MELAS families.

We describe the clinical, morphological, biochemical presentation in two MELAS families, and correlate it with the distribution and proportion of mitochondrial DNA carrying the A to G transition at nt 3243. Family A was characterized by late onset MELAS in two members, CPEO in one, and mild CNS involvement in another. 20-61% of mtDNA of affected and unaffected individuals was mutated in muscle, 2-18% in blood. There was no obvious correlation between clinical picture and proportion of mutated mtDNA. In family B full MELAS syndrome appeared only in the third generation, but the mutation was also detected in muscle of asymptomatic individuals of the first and second generation. The proportion of mutated mtDNA in blood, and to a lesser extent in muscle, correlated with the severity of the clinical presentation. The MELAS mutation is consistently detected in all asymptomatic maternal relatives of MELAS patients. We conclude that different clinical presentations of mitochondrial encephalomyopathy may coexist in the same family, and correlation between clinical severity and molecular abnormality is not always recognizable. Presence of the MELAS mutation in muscle and blood is a necessary but not sufficient condition for the expression of the typical MELAS phenotype.

Tapia's syndrome caused by a neurofibroma of the hypoglossal and vagus nerves: case report.

Tapia's syndrome is characterized by unilateral paralysis of the tongue and vocal cord, and is caused by a lesion of the 10th and 12th cranial nerves below the nodose ganglion, without involvement of the pharyngeal branches of the 10th nerve. The authors report the case of a 25-year-old man who presented with a 4-year history of progressive glossolaryngeal paralysis. Operation through the right laterocervical region allowed complete removal of a neurofibroma involving the 10th and 12th nerves at their crossing below the nodose ganglion.

A casual spontaneous mutation as possible cause of the familial form of arrhythmogenic right ventricular cardiomyopathy (arrhythmogenic right ventricular dysplasia).

In a family affected by arrhythmogenic right ventricular cardiomyopathy (ARVC) the familial occurrence was investigated. All 14 members of two generations were investigated carefully, and only 2 (father and one son) members were affected. Both subjects had a massive form of the disease with relevant ventricular arrhythmias. Apart from the limitations of having investigated few subjects, this behavior suggests a genetic mutation appearing in the father and transmitted via an autosomal dominant trait.

Acute myocardial infarction after sumatriptan administration for cluster headache.

The pain of cluster headache attacks is severe, excruciating and selectively responsive to subcutaneous sumatriptan. Serious cardiovascular events attributed to sumatriptan are extremely rare and have most often been reported in patients at significant cardiovascular risk, or in overt cardiovascular disease. They also have occurred, however, in patients without evidence of cardiovascular disease. We describe a 42-year-old man with episodic cluster headache without history of coronary artery disease who was admitted to our coronary care unit for acute myocardial infarction after 3 h of subcutaneous injection of sumatriptan. During hospitalisation cluster headache attacks were successfully treated with e.v. indomethacin.

The Stroke in Italy and Related Impact on Outcome (SIRIO) study: design and baseline data.

The SIRIO study collected detailed information on the stroke care of patients treated in neurological departments in Italy. This report refers to the baseline profile of patients. Each centre recorded the incident cases of ischaemic and haemorrhagic stroke, excluding SAH, for 1-4 months. Baseline data include demographics, risk factors, comorbidities, pre-event medications, social conditions, NIHSS and Rankin scale on entry, Barthel Index pre-event, diagnostic tests and treatments applied on entry. Overall, 3018 patients (56.7% men; mean age 72.1+/-12.2 years) with ischaemic (85.3%) or haemorrhagic stroke were hospitalised in 103 centres; 51% arrived by ambulance. Median time to hospital was 140 min (RIQ: 60-615). TOAST classification of the 2573 ischaemic strokes was: 29.4% large-artery atherosclerosis, 24.6% cardioembolic, 26.2% small vessels occlusion, 6.5% other determined causes and 13.3% undetermined. CT and/or MR were performed in all patients. Total Greenfield's comorbidity score was 5.4+/-3.5. Mean Barthel Index pre-event was 93+/-17; Rankin score on entry was 4-5 in 48% of the patients and 0-1 in 25%. Mean NIHSS on entry was 7.1+/-5.4; 52% of the patients had a NHISS <6 and 1% >22. SIRIO began giving the expected insights on the in-hospital management of stroke in Italy. Further information will be provided by the longitudinal phase of the study, which is in progress. Pre-event patient management and mode of reporting call for additional educational actions.

Quantification of the risk of post stroke depression: the Italian multicenter observational study DESTRO.

OBJECTIVE: The Italian multicenter observational study depression in stroke (DESTRO) aimed to identify risk factors for post stroke depression (PSD) and quantify the likelihood of it arising in various categories of patients. METHOD: Mood evaluation was performed in 1064 consecutive stroke patients by means of Beck Depression Inventory and Visual Analog Mood Scale. Depressive symptoms were classified using the DSM-IV and revised WHO criteria for depression in the course of a neurological disorder. RESULTS: Post stroke depression was seen in 36% of the survivors, with dysthymia by far the predominant form (80.7%). Female sex, disability, previous cerebrovascular or depressive episodes were significantly associated with an increased risk of depression. Combinations of these factors raised the risk of PSD exponentially, from 24.3 to 89.1%. The site of the stroke did not come into the uni- or multivariate analysis. CONCLUSION: At admission, it is possible to predict the likelihood of PSD and quantify the relative risk.

Elevated plasma homocysteine in acute stroke was not associated with severity and outcome: stronger association with small artery disease.

Homocysteine increases in the acute phase of ischaemic stroke and from the acute to the convalescent phase, suggesting that hyper-homocysteinaemia may be a consequence rather than a causal factor. Therefore we measured homocysteine plasma levels in stroke patients in order to investigate possible correlations of homocysteine with stroke severity and clinical outcome. Further we looked for eventual differences in stroke subtypes. We prospectively studied plasma homocysteine levels in acute stroke patients admitted to the stroke unit of our department. Seven hundred and seventy-five ischaemic stroke patients, 39 cerebral haemorrhages and 421 healthy control subjects have been enrolled. Stroke severity and clinical outcome were measured with the Scandinavian Stroke Scale, the Rankin Scale and the Barthel Index. Stroke severity by linear stepwise regression analysis was not an independent determinant of plasma homocysteine levels. Homocysteine was not correlated with outcome measured by the Barthel Index. Mean plasma homocysteine of both ischaemic and haemorrhagic stroke was significantly higher than controls (p<0.05). Homocysteine had an adjusted odds ratios (OR) of 4.2 (95% CI 2.77-6.54) for ischaemic stroke and of 3.69 (95% CI 1.90-7.17) for haemorrhagic stroke. Compared with the lowest quartile, the upper quartile was associated with an adjusted OR of ischaemic stroke due to small artery disease of 17.4 (95% CI 6.8-44.3). Homocysteine in the acute phase of stroke was not associated with stroke severity or outcome. Elevated plasma homocysteine in the acute phase of stroke was associated with both ischaemic and haemorrhagic stroke. Higher levels are associated with higher risk of small artery disease subtype of stroke.

Single photon emission tomography findings in lacunar lesions.

99-Tc hexamethyl propylene amine oxime single photon emission tomography was performed in 18 patients showing typical lacunar hypodensities on CT scan (3 with Binswanger's disease and 3 with acute-stage lacunar syndrome). Reduced radiouptake in the site of the lacunar lesions was observed in 7 out of the 18 patients, while all of the patients with Binswanger's disease showed a bilateral reduced whithe matter uptake. Two of the three acute-stage lacunar syndrome patients showed a reduced radio uptake in the cortical areas of the hemisphere, in which the lacunar lesion was detected (diaschisis), followed by subsequent normalization and clinical improvement.

Cognitive performance and Parkinson disease: neuropsychological and CT study.

30 patients with Parkinson disease were investigated with computed tomographic (CT) scanning and neuropsychological tests. The CT data proved to be of scant interest whereas tests of intelligence, verbal and visual memory and visuomotor abilities were all informative. Parkinsonian patients with cognitive impairment seem to constitute a separate group in which akinesia and gait disturbances predominate.

Benign cough "cluster" headache.

Benign cough headache presents as a sudden bilateral, short-lasting pain precipitated by coughing. The diagnosis requires noninvasive brain-imaging so that secondary causes can be ruled out. We describe a man, 57 years of age, complaining of an atypical form of benign cough headache which shares some features with episodic cluster headache. To our knowledge, this is the first description of a link between these two types of idiopathic headache.

[Malarial encephalopathy and disseminated intravascular coagulation (author's transl)]. / Encefalopatia malarica e coagulazione intravasale disseminata

Clinical and anatomical studies of a case of malarial encephalopathy are described in a 51 year old man. In view of the typical symptomatology it was important to ascertain an period even brief of stay in an endemic area. Only when this was confirmed the appropriate investigations could be planned (in thic case thick blood drop test) to identify the parassite. The physiopathological mechanisms through which the malarial infection causes the parenchymal lesions are considered. Such lesions according to many Authors are of ischemic nature, due to machanical obstruction of capillaries by the invaded erytrocytes with damage to the endotelial wall and thrombus formation. These lesions cause anoxic and necrotic damage of the parenchyma and, in certain cases, the appearance of serious haemorrhagic syndromes where the initial stage is the conglutination of the erytrocytes followed by disseminated intravascular coagulation syndrome. The importance of this syndrome is emphasized as well AA. the role of the association of the specific antimalarial treatment with the use of drugs against blood conglutination, thrombosis and oedema.

Primary brain stem haemorrhages: clinico-radiological considerations on five cases observed.

Five patients with primary brain stem haemorrhage are reported, of whom four survived. One died from complications involving other organs. The diagnosis was made by computerized tomography which also allowed the temporal evolution of the lesion to be followed. The importance of haemorrhagic lesions in brain stem vascular pathology with regard to ischaemic lesions is re-evaluated.