Rivista di neurologia最新文献

To study effects of fatigue on muscle excitability and contractility in myotonic dystrophy (MyD), we evaluated, by ulnar nerve supramaximal stimulation, both single shock and 40 Hz tetanus, M wave and force parameters from adductor pollicis. In 8 MyD patients and in 6 controls amplitude of M wave, electromechanical delay, single twitch and tetanus tension, contraction and half-relaxation times were recorded in basal condition and at different times after 75 sec. of maximal voluntary contraction. Reduction of force related to fatigue was per cent lesser in MyD compared to controls. Electro-mechanical delay, basally longer in MyD, showed after fatigue 15% increment compared to 47% in controls. Half-relaxation time increased in both groups, but in MyD recovery was faster. Peculiar alterations of excitation-contraction coupling and contractility occurring in MyD can explain the observed modifications of fatigue phenomena in this disease.

A case of cerebral venous sinus thrombosis is described in a forty-two years old patient. The literature is reviewed about clinical presentation and neuroradiological findings. We consider the use of NMR in diagnosis.

We report our experience in clinical and neuroradiological findings on the vascular malformation in our department from January 1988 to March 1990. We have discussed the actual diagnostic modalities and have reviewed the literature.

Motor neuron diseases (MND) associations with paraproteinemia, lymphoma, hexosaminidase A deficiency and heavy-metal intoxication are of great interest. A case of amyotrophic lateral sclerosis (SLA) associated with multiple myeloma (monoclonal IgG paraproteinemia and K light chains) is reported. The detection of abnormal protein in 1988 and the increase of its serum level during 1989 were strictly correlated with the beginning and the worsening of the neurological disease. Shy and coll. in 1986 affirmed that association of paraproteins with MND is probably not merely the fortuitous association of a common laboratory abnormality and an uncommon disease. The reported case provides elements for a causal association between paraproteinemia and MND.

Two families with autosomal dominant spinocerebellar ataxia (SCA) of late onset were studied. These families originate in the same small rural area in a Southern Italian region (Calabria). We report the clinical study of 23 patients in different stages of the disease and neuropathological study in one patient. Linkage studies provided strong evidence for linkage of the SCA locus to the HLA loci (SCA1) in the subjects of these families. Our study allows to outline the clinical features of HLA linked SCA in order to trace a pattern of SCA1 phenotype thus making easier the identification of SCA1 heterozygotes in an early clinical stage.

Two forms of verbal fluency test, phonological (FF) and semantic (FS) sets, have been administered to four groups of demented patients: 11 with Alzheimer-type dementia (DAT), 13 with multi-infarct dementia (MID), 8 with Parkinson-Dementia (P-D) and 11 with adult chronic hydrocephalus (ICA). Patients were matched for age, educational level and neuropsychological impairment pattern. Further, ten neurologically healty subjects were selected as control group. Control subjects result to be different from all other groups in both FF and FS; moreover, FF test results to be more impaired in ICA than in DAT. Furthermore, FF is more impaired than FS in P-D and ICA patients. On the basis of our results, verbal fluency tests might represent an useful instrument to differentiate demented subjects from non-demented ones and within demented groups to characterize the different neuropsychological pattern of the cortical and subcortical type of cognitive deterioration.

Cavernous angiomas and venous angiomas may be discovered as associated lesions in the same patient. Most Authors report that Venous angiomas are not true vascular malformation; they should be considered as variant of normal venous drainage, consisting of tortuous medullary veins converging into a dilated draining one. By rule, they are quite asymptomatic, and very rarely bleed. On the other side, cavernous angiomas are true vascular malformations, usually angiographically occult. Their association is relatively rare, but it is important because of the possibility of bleeding, which should be related to the presence of the cavernous malformation. We report the cases of three patients studied by Computed Tomography, Magnetic Resonance and Digital Angiography in our Neuroradiologic Department.

Two old men in whom the CT and MR scans had unexpectedly shown an enormous arachnoid cyst in the fronto-temporo-parietal region, underwent neuropsychological examination. This did not show any neuropsychological abnormality. This is in accordance with the hypothesis that the cyst represents a dysontogenetic disorder with very slow growth, leaving functionally normal the cerebral structures shifted.

The ischaemic ictuses are a frequent pathology. For their annulling potentiality a quick etiopathogenetic diagnosis is necessary to institute a suitable therapy that limiting the extension of the cerebral damage. In this respect, it is fundamental the use of the duplex methods in real time together with doppler valuation of the neck vessels (carotid and vertebral) and of the intracranial big arteries. The direct observation of the endoluminal surface in the extracranial vessels and the valuation of the circulatory condition in the individual arterial districts explored give as important of haemodynamic information which, added to that obtained through a computerized axial tomography and the clinic, allows a correct diagnostic valuation with important effects on the therapy as well as a reliable prognostic formulation. Description of two clinical cases.

Two brothers with Progressive myoclonic epilepsy and Juvenile bulbar and spinal atrophy had clinical, neurophysiological study and muscle biopsy. The EEG and polygraphic findings included progressive slowing of the background activity, spontaneous fast generalised spike- and wave discharges and photosensitivity. The EMG revealed pathological spontaneous activity as well as motor unit potentials diminished in number and increased in amplitude and duration; while VDCS and VDCM were normal. Results of muscle biopsy showed no represented "ragged red fibers" with the modified Trichrome stain, while grouped small caliber angular fibers of both histochemical type were visible with the myofibrillar ATPase reaction, but type 2 fibers predominated amongst the atrophic ones. Serum and urine metabolic measurement and lysosomal enzyme activities in leukocytes were all normal. We feel that the reported case might represent a familial syndrome not previously recognized showing non-specific degenerative changes with neuropathological examination. This disorder is similar only to the case reported by Lance J.W. and Ewans W.A. in 1984 "Progressive myoclonic epilepsy, nerve deafness and muscular atrophy".