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We report a kindred of French/Alsatian origin with symptoms of Gerstmann-Sträussler-Scheinker disease over 3 generations. In the propositus, cerebellar signs and memory disturbance were the presenting features, followed by other neurological manifestations. Biopsy of the cerebral cortex showed numerous multicentric and "kuru"-type amyloid plaques that on immuno-light and electron microscopy stained with antibody to prion protein. Molecular genetic analysis revealed an A117V mutation in the open reading frame of the prion protein gene. Questions as to pathology and spread of this mutation are discussed.

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A multi-centre, double-blind study was carried out in 100 patients suffering from chronic spasticity due to multiple sclerosis to compare the effectiveness of tizanidine hydrochloride with that of baclofen. Patients were allocated at random to receive treatment initially with daily doses of either 6 mg tizanidine or 15 mg baclofen and the dose was increased during the first 2 weeks up to a maximum of 24 mg tizanidine or 60 mg baclofen per day. Patients were then treated with the optimum dose for 6 weeks. Efficacy and tolerability parameters were evaluated after 2 and 8 weeks. Tizanidine and baclofen improved the functional status of patients in 80% and 76% of cases, respectively, but there were no significant differences between the two drugs. The antispastic efficacy of tizanidine was greater after 8 weeks than after 2 weeks, whereas the efficacy of baclofen decreased slightly with time. Both drugs showed good overall tolerability in more than 60% of patients. Thus, tizanidine is a well tolerated and effective muscle relaxant, the antispastic efficacy of which is well maintained over time, and it promises to be particularly useful in the treatment of spasticity due to multiple sclerosis.

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A double-blind study was carried out in 105 patients with chronic spasticity associated with hemiplegia in order to compare the efficacy and tolerability of tizanidine with that of diazepam. Dosage was increased progressively, if tolerated, to a maximum of 24 mg tizanidine or 30 mg diazepam per day at the end of 2 weeks. The optimum dosage was then maintained for 6 weeks. Efficacy and tolerability parameters were assessed after 2 and 8-weeks' therapy. Patients on tizanidine but not those on diazepam showed a statistically significant improvement in functional status, as assessed by walking distance on flat ground. Analysis of the stretch reflex in four groups of muscles showed that both tizanidine and diazepam reduced the duration of contractions and increased the angle at which contraction occurred, but there were no significant differences between the two drugs. Clonus of the triceps surae resolved in 48% of tizanidine and 40% of diazepam patients. Evaluation of the effect of therapy revealed an improvement with each drug in approximately 83% of patients, with the overall evaluation being slightly (but non-significantly) in favour of tizanidine. There were fewer discontinuations of treatment in the tizanidine group as a result of side-effects. It would appear, therefore, that tizanidine is an effective and well-tolerated drug in the treatment of cerebral spasticity.

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A 27-year-old Algerian patient presented a slowly progressive disease clinically characterized by a cerebellar syndrome, absence of deep reflexes, bilateral sign of Babinski, deep sensory disturbances, ophthalmologic disorders and pes cavus. The diagnosis of ceroid lipofuscinosis resulted from the presence of lipofuscin deposits evidenced as autofluorescent bodies, and a particular type of curvilinear, crystalloid ultrastructural inclusion bodies in muscle, lymphocytes and liver. Biochemical tests showed reduction in levels of linoleic and arachidonic acids, and of superoxide dismutase activity in lymphocytes. These findings suggest that the biochemical anomalies result from disturbances in polyunsaturated fatty acids metabolism. These results can be related to pathogenetic hypotheses for ceroid lipofuscinosis suggesting a predominant role for peroxidation of fatty acids.

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Serum cold cytotoxic antibodies (CA), detected at 15 degrees C using a microcytotoxicity technique, were present in 12 of 21 multiple sclerosis (MS) patients, weak or absent in 6 neurological patients without MS and present but weak in 5 out of 32 healthy controls. In MS, these cold CA were directed against 3 distinct cellular populations: total lymphocytes, B lymphocytes and monocytes; certain antibody tests were positive at 37 degrees C; no correlation between CA and clinical disease was observed. Cerebrospinal fluid (CSF) antibody levels were high in both MS and non-MS patients and at 37 degrees C produced lysis of monocytes in the absence of complement. These antibodies may be normal CSF constituents. Our results suggest that there may be 3 different antibodies and that they may play a role in immunomodulation, especially in MS.

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A similar affection has developed in eight members from four generations of a family living in the Alsace. The disease is characterized by the onset of a pyramidal, pseudobulbar syndrome and dementia during the third or fourth decade of life. The outcome is fatal after a mean period of three years. Cerebral biopsies in three cases have demonstrated multicentric amyloid plaques differing from senile plaques. Clinical and pathological findings are similar to those currently reported in the literature as being typical of Gerstmann-Sträussler-Scheinker's syndrome. The affection appears as a separate entity: the multicentric plaques, clinical symptomatology, pyramidal or pseudobulbar, cerebellar syndromes, usually preceding dementia, age of onset, course, and familial character or the disorder distinguish it among presenile dementias. Its clinical profile and course are very similar to that of familial cases of Alzheimer's disease, some of which are probably cases of Gerstmann-Strässler-Scheinker's syndrome. Transmission to animals, though inconstant, places it within the group of transmissible dementias among kuru, Creutzfeldt-Jakob's, and familial forms of Alzheimer's disease. The familial nature of the affection and the variability of clinical and pathological features in the same family illustrate the complex relationships between hosts and pathogenic agents in the clinicopathological expression of a disease.

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458 patients who had their first epileptic fit between the ages of 40 and 65 are classified into 5 groups according to the seizure symptomatology: when the symptomatology remains unchanged, the frequency of fits is less than 1 per month in 84% of generalized fits and more than 1 per month in 52% of focal fits. When the symptomatology changes, the frequency of fits is less than 1 per month when the inaugural fit is generalized (23 out of 27) and more than 1 per month when the inaugural fit is focal (15 out of 21). Modifications of the symptomatology correlate positively with a prevalence of tumor aetiology. Primary generalized epilepsies are rare (4.4%). Non-specific secondary generalized epilepsies (including vascular, metabolic or toxic encephalopathies) account for 24.4% of the cases. Focal epilepsies are the most common form (40.7%), elementary fits being four times more frequent than complex fits.

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Three of 11 children, offspring of a consanguineous marriage, presented a progressive myopathy and seizures, associated with symptoms suggesting both central and peripheral nervous system involvement. The ultrastructural muscular lesions were not specific. The association of severe impairment of muscle tissue and of central nervous system is rare, being described in centronuclear myopathy, cerebromuscular dystrophy, Kearns-Sayre syndrome and in a few isolated cases. Clinically only these isolated observations and especially the Kearns-Sayre syndrome demonstrate analogies to our observations. These data lead us to the discussion of the specificity of ultrastructural lesions, especially mitochondrial abnormalities. Some authors consider these abnormalities to be the biochemical hallmark for ophthalmoplegia plus, whereas for others, especially Drachman, they are an inconstant and nonspecific finding, merely the consequence and not the cause of this disease. These observations argue for the relationship between muscular pathology and nervous system dysfunction.

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In 11 patients with complex partial epileptic seizures stuporous states were observed during treatment with valproate (VPA) (2 cases), with VPA and phenobarbitone (PB) (4 cases), or with VPA, PB and a third anti-epileptic drug (5 cases). Based on 3 characteristic cases, an attempt is made to define the role of VPA, the nature of the stuporous states, and the origin of digestive disorders which often herald the onset of behavioural disorders. Several clinical studies have suggested the direct responsibility of VPA even if the adverse effects are potentiated by many other anti-epileptic drugs. Stuporous states are not due to VPA overdose and do not depend on the mode of administration. No correlation has been found between electroclinical signs and plasma or CSF levels of the different anti-epileptic drugs. Reported data and the present cases suggest a paradoxical epileptogenic role for VPA on complex partial seizures: there exists a close similarity of electroclinical findings between spontaneous epileptic seizures and stuporous states during DPA treatment. Digestive disorders appear to result from a central mechanism and not from digestive tract intolerance. In some cases, it is likely that partial seizures with digestive symptoms and signs do occur.

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Based on the anatomical and clinical findings in the very rare cases reported, recent experimental data, and the results of oculography, the authors consider that this condition merits definition as an individual entity. It is usually associated with other disorders of oculomotility which may mask clinical signs, and oculography is necessary to establish the diagnosis. Terminologically, it would appear logical to retain the terms; abduction internuclear ophthalmoplegia (and not, posterior), and adduction internuclear ophthalmoplegia (and not, anterior).

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Oculographic study of a case of opsoclonus associated with infectious meningoencephalitis was used to determine the criteria of definition of this abnormal ocular movement, distinguishing it from the other abnormal movements of flutter and dysmetria. The authors first discuss, on the basis of these recordings, the possible relationship between opsoclonus and myoclonia, and then the role of the cerebellum. The disturbances noted in the course of study of saccadian movement lead them to suggest the hypothesis of overall involvement of the saccadian oculomotor system. They stress the value of oculographic recording in better understanding the general mechanisms of saccadian movement and the pathogenesis of the various changes which may be encountered.

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