Five patients with progressive supranuclear palsy are described, in whom the ophthalmoplegia developed late in the course of the disease. In two, an internuclear component was identified in the ophthalmoplegia, and one patient had an alternating nystagmus of a type not previously described in this condition.

The late appearance of the ophthalmoplegia, with a corresponding delay in establishing the diagnosis, is compared to the similar experience of Pfaffenbach et al (1972) in six patients.

Other clinical features, previously seldom described, have been encountered. Dysphasia was seen in two cases, both of whom had evidence of cortical atrophy on neuro-radiological investigation. The evidence that cortical changes, in particular the presence of neurofibrillary tangles, may be a specific morphological characteristic of the disease rather than a chance association is discussed. Disorders of respiratory rhythm in four patients were similar to those described by Mastaglia et al. (1973), and indistinguishable from those occurring after encephalitis lethargica.

A review of cases resembling progressive supranuclear palsy in the early part of the century fails to show any with post-encephalitic features, nor does a search of reviews of eye movement disorders in encephalitis lethargica and post-encephalitic Parkinsonism provide comparable cases. None of the forty patients with post encephalitic Parkinsonism examined at the Highlands Hospital had a clinical picture resembling progressive supranuclear palsy.

It is suggested that neither on clinical nor pathological grounds is it justifiable to equate this disorder with known postencephalitic syndromes.

Multiple sclerosis patients treated with antithymocyte globulin (ATG) were re-evaluated after five years. No long term benefit was found. Notably, the group of patients with an elevated gamma globulin to total protein ration in their C.S.F. and who did particularly well after treatment with ATG also failed to show any long term benefit. Few long term detrimental effects of ATG immunosuppression were identified. The implications of the results are discussed as they relate to the use of immunosuppression in multiple sclerosis.

The time response of the Electroretinogram (ERG) is an essential part of the examination. Peak time of response increases with dark adaptation and decreases with the intensity of stimulation. When working with constant amplitude during dark adaptation sensitivity increases but the intensity of stimulation decreases. It is essential to clarify the relationship of these two factors for valid interpretation of results. The present work suggests that the state of adaptation or retinal sensitivity affects amplitude, while peak time of the response is modified by the absolute value of the stimulating source whatever the state of adaptation. This observation has been done on rod responses and is valid as long as pigments remain unbleached and able to respond.

Anesthetized rabbits were given intravenous injections of either beta-lipotropin (beta-LPH), betamelanotropin (beta-MSH) or betaendorphin. The postinjection concentrations of these peptides in plasma and cerebrospinal fluid (CSF) were measured by radioimmunoassay (RIA). The plasma disappearance half-times were 13.7 min for beta-LPH, 5.1 min for beta-MSH, and 4.8 min for beta-endorphin. Circulating beta-LPH is cleaved to peptides tentatively identified as gamma-LPH and beta-endorphin. Each of these peptides appeared in the CSF within 2 min postinjection. The maximum CSF to plasma ratios were 0.08 for beta-LPH, 1.48 for beta-MSH, and 0.23 for beta-endorphin.

Recent observations are considered to provide further evidence for an abnormality involving motoneurones in DMD. The dystrophic process appears to take place in two stages of which the first occurs during early embryonic life. This stage is thought to involve faulty inductive actions of the neural tube upon mesoderm and upon itself. The neural consequences vary among individuals and are manifested as mental retardation, EEG abnormalities and losses of functioning motor units. While the first two abnormalities are non-progressive, a further loss of motor units, associated with striking reductions in the numbers of excitable muscle fibers, takes place in trunk and large limb muscles at 9-12 years. The latter process, the cause of which is uncertain, constitutes the second stage of DMD.

In previous studies, the incorporation of 3H(G)L-leucine into muscles of patients with Charcot-Marie-Tooth (CMT) disease was shown to he increased in comparison with that observed in motor neuron disease (MND). To determine the cause of the increased uptake in CMT, studies of single fiber leucine incorporation have been undertaken. The results of this study indicate that the increased incorporation is into those muscle fibers which are undergoing regeneration following reinnervation. These results do not support the thesis that there is an associated myopathic process in CMT.

Two cases of systemic carnitine deficiency are described. In both patients, carnitine concentration was lower than normal in serum and muscle tissue. In the first case, the illness began at age 35; the clinical manifestations were only muscular. In the second case, the illness began in childhood; there were intermittent episodes of hepatic enlargement and coma. An excessive lipid content was present in muscle tissue, especially in type I fibers, of both cases, and in the liver of the second patient. Ultrastructural studies of muscle tissue revealed important changes of mitochondria.

During muscular exercise, aerobic and anaerobic metabolism were in vestigated. For a given relative work intensity, these patients showed abnormally high blood lactic acid concentration and lactic acid/pyruvic acid ratios. These data, together with the morphological alterations observed in mitochondria, suggest an impaired function of the respiratory chain, leading to a shift of the red/ox potential of the tissue towards a non reduced state.

A prolonged anticonvulsant action of taurine has been shown in a strain of seizure susceptible rats. The audiogenic rat (AS) has lower intracerebral electroshock thresholds in three auditory nuclei; the ventral cochlear, the inferior colliculi and the medial geniculate, and in one nonauditory structure; the reticular formation, than a strain of nonaudiogenic rats (NAS). Furthermore, the AS animals routinely display maximal (tonic-clonic) convulsion, regardless of brain structure stimulated, whereas NAS subjects respond with minimal (clonic) convulsions. Within three minutes of intraventricular injection of 8 μ moles, taurine reduces the susceptibility of AS rats to intracerebral electroshock seizures along with attenuation of the severity of the convulsion. The initial elevation in intracerebral electroshock threshold returns to pretreatment value at 24 hours, only to rise again at 48 hours and to remain elevated through day six after injection. In contrast, the severity of convulsions remains attenuated through 24 hours, after which it returns to pre-injection level. By comparison, NAS animals injected intracerebroventricularly in an identical fashion to the AS rats showed no changes in either seizure threshold or severity of convulsion. The direct injection of 200n-moles of taurine in the inferior colliculi of AS rats produced a slow developing, but prolonged, elevation of intracerebral electroshock threshold of this auditory nuclei. However, at no time after the intracerebral injection of taurine was convulsive severity changed. Injection of taurine into the inferior colliculi of NAS subjects did not change either susceptibility or severity of intracerebral electroshock seizures. The data indicate that taurine produces an anticonvulsant effect which is slow in onset, potent, selective and prolonged.

Previous research indicated that sequential alternation of stimulation of certain homologous brain areas via chronically implanted electrodes resulted in oscillation of high and low latencies for convulsions. This phenomenon suggested the establishment of interhemispheric facilitatory-inhibitory effects as a result of repeated stimulation of the two brain sites. In the present study, the latency oscillation pattern was observed in split-brain rats as well as in bilaterally stimulated controls, but not in rats stimulated on one side only. Significant differences were observed between split-brain and control rats in terms of initial kindling rates, duration of convulsions and type of oscillation. Results are discussed in the context of possible interhemispheric mechanisms involved in long term kindling.

A number of excellent and comprehensive reviews on various aspects of pyruvate dehydrogenase multienzyme complex have been written recently. The purpose of the present review is to summarize briefly the reaction mechanism and the regulation of this enzyme. Emphasis is put on the most recent literature not covered by previous reviews. Particular attention is also paid to the regulation of brain pyruvate dehydrogenase multienzyme complex, since a number of patients with neuromuscular diseases, such as Friedreich's ataxia, show a decreased rate of pyruvate oxidation.

Clinical, electrophysiological, and histopathological studies of some members of a family with dominantly inherited hypertrophic neuropathy are presented. Twenty-five members were studied. Seventeen were abnormal on clinical examination. Their ages varied from 2½ to 78 years. Age at onset in 14 of the 17 varied between 2½ and 56 years. Pes cavus and palpable nerve thickening were present in more than half of the affected individuals. All patients had areflexia. Fifteen of the 17 had distal motor weakness as well as mild to moderate sensory impairment. Motor weakness affecting the proximal hip and shoulder girdle muscles was seen in 13 patients. Four patients gave a history of trigeminal neuralgia. Motor nerve conduction velocities were markedly impaired in all the clinically affected members. These studies were normal in the 8 unaffected members. Motor conduction velocities of the proximal segment of the ulnar nerve were slower compared to the distal segment in almost all the affected members. There was no significant correlation between the degree of clinical disability and the extent of impairment in the motor nerve conduction velocities. Sural nerve biopsies were studied. These observations are discussed.

A case of hot water epilepsy is presented and the literature on the subject is reviewed. The data show that hot water epilepsy is a benign form of rejlex epilepsy occurring mainly in children. Males are affected more than females. The triggering stimulus is immersion in hot water (over 37°C). The seizure is usually psychomotor, although generalized convulsions may occur. The EEG findings indicate that the abnormality lies in the temporal lobe.

A clinicopathological study in a case of Roberts syndrome (tetraphocomelia, cleft lip and palate, and phallic hypertrophy) is reported. This patient had hydranencephaly and imperforate anus, two additional congenital abnormalities so far not reported in this syndrome.

An unusual tumor arising in the filum terminale is described. The clinical data revealed an extensive and slowly growing lesion. The histologic picture was characterized by a proliferation of lobules and sheets of regular cells within a rich vascular network. Electron microscopic studies showed light and dark cells with sustentacular extensions. Typical neurosecretory granules were obsen'ed in both cell types, establishing the diagnosis of para-ganglioma. The glomus coccygeum could be the site of this tumor.