Showing papers in "Acta Neurologica Scandinavica in 1992"

Frontal lobe function in amyotrophic lateral sclerosis: a neuropsychologic and positron emission tomography study.

Abstract: In this study the regional cerebral glucose utilization and the neuropsychological performance of patients with amyotrophic lateral sclerosis (ALS) was investigated. Special attention was given to neuropsychological tests thought to mirror frontal lobe dysfunction. The regional cerebral glucose utilization was studied in 18 patients using high-resolution positron emission tomography. Clinically all patients displayed upper and lower motor neurone signs. In ALS patients glucose metabolism was significantly reduced in the frontal and in the entire cortex compared with controls; no changes were seen in the cerebellum. Comprehensive neuropsychological assessment of ALS patients compared to a pair matched control group revealed mild frontal dysfunction which in part significantly correlated with reduced glucose metabolism in the cortex and subcortical structures. We conclude that in patients with ALS, glucose consumption is decreased in parts of the brain other than the motor cortex accompanied by mild neuropsychological deficits based on the tests employed in this study.

The aging brain.

Abstract: A recent interest in aging of the nervous system is related to the remarkable increase in the numbers of elderly persons throughout the world. As a reflection of the added years, pathologies in the older person have also increased. Primary among those which affect the activities and behavior of these people are the dementias, especially Alzheimer's Disease. To focus on such problems, however, requires an understanding of the changes which take place in the normal aging nervous system. This paper reviews some of the accepted criteria for these changes as well as the possible attempts by the nervous system to alter its structure in response to these changes.

Vibratory stimulation increases and decreases the regional cerebral blood flow and oxidative metabolism: a positron emission tomography (PET) study.

Abstract: The aim of this study was to examine the hypothesis, if the activation of some cerebral structures due to physiological stimulation is accompanied by deactivations of other structures elsewhere in the brain. A vibratory stimulus was applied to the right hand palm of healthy volunteers and the regional cerebral blood flow (rCBF) and regional cerebral oxygen metabolism (rCMRO2) were measured with positron emission tomography (PET). Regional analysis and voxel-by-voxel plots indicated that the stimulation induced increases and decreases of the rCBF were coupled to increases and decreases of the rCMRO2. The increases were localized in the left primary somatosensory area (SI), the left secondary somatosensory area (SII), the left retroinsular field (RI), the left anterior parietal cortex, the left primary motor area (MI), and the left supplementary motor area (SMA). The decreases occurred bilaterally in the superior parietal cortex, in paralimbic association areas, and the left globus pallidus. The increases and decreases of the rCBF and rCMRO2 were balanced in such a way that the mean global CBF and CMRO2 did not change compared with rest. We conclude that the decreases of the cerebral oxidative metabolism indicated regional depressions of synaptic activity.

Early onset ms under the age of 16: clinical and paraclinical features

Abstract: MS in juvenile patients under the age of 16 occured in 31 (5%) of our whole MS population of 620 patients in the time from 1975-1991. It does not differ clinically from disease as observed in 72 patients with later onset MS in respect to symptoms at onset, course, progression rate, rate of relapses and abnormalities in CSF and MRI. However, fever, headache, nausea and vomiting with pleocytosis in CSF during the first episode and development of oligoclonal bands with passage of time may be characteristic in some juvenile patients

Season of birth in multiple sclerosis.

Abstract: The monthly distribution of births of people who were later diagnosed with multiple sclerosis differed significantly from that of the general population in Denmark. The multiple sclerosis patients had an excess of births in March, April, May, and June, and fewer in the other months. Infection was suggested as a possible explanation.

Memory training and memory improvement in Alzheimer's disease: rules and exceptions.

Abstract: Alzheimer’s disease (AD) results in a global memory dysfunction that involves (a) retrieval of information encoded in a particular temporal-spatial context, or episodic memory; (b) retrieval of overlearned context-free information, or semantic memory; and (c) retrieval of information without conscious awareness, or implicit memory (1,2). However, as with many other groups of individuals suffering from memory deficits, the most pronounced deficit in AD, especially early in the disease process, is seen in tasks tapping episodic memory (e.g., free recall or recognition of verbal and nonverbal infomation) (3). Not only do AD patients perform extremely poorly in the bulk of episodic memory tasks, but unlike their healthy aged counterparts, they have also been found to fail to benefit from a variety of different forms of environmental and cognitive support for remembering (4). A selection of studies demonstrating such failures to utilize memory support in AD is shown in Table 1. The basic message from Table 1 is that, irrespective of whether organizational instructions, verbal mediators etc. are provided, AD patients tend to perform at the same low level as in baseline conditions in which these forms of support are lacking. Note that all forms of cognitive support listed in Table 1 have been found to improve memory considerably in healthy older adults (5,6).

Daytime sleepiness: a risk factor in community life.

Abstract: The prevalence of daytime sleepiness and background factors associated with it were investigated in a study carried out at the UKK Institute. The inquiry took the form of a questionnaire mailed to 1600 people of middle age. Daytime sleepiness was found to be associated with disturbed night sleep. Women were more tired than men, but men slept more frequently during the day. Those suffering from tiredness complained of poor health more than other respondents. Traffic accidents and other mishaps attributable to tiredness had occurred in 1.3% of cases, and almost 5% of male respondents had dozed off while driving at least five times in their lives. The findings indicate a need for increased attention to disturbance of sleep and daytime sleepiness in routine health screening.

Superior sagittal sinus thrombosis and pulmonary embolism: a syndrome rediscovered.

Abstract: Pulmonary emboli as a fatal complication of superior sagittal sinus thrombosis was once well recognized in the literature but appears to have been forgotten. The sagittal sinus appeared to be the source of pulmonary emboli in previously reported cases. Even in patients with no evidence of systemic thrombosis, but who have sagittal sinus thrombosis, the possibility of dislodging pulmonary emboli should be strongly considered. We report a case of nontraumatic sagittal sinus thrombosis complicated by multiple pulmonary emboli and a fatal saddle embolism, likely originating from the thrombosed sinus. Our review of the literature between 1942 and 1990 yielded 203 cases of intracranial venous thrombosis. The overall mortality rate was 49.3%. In 23 cases (11.3%), the venous sinus thrombosis was associated with pulmonary emboli and in these the overall mortality rate was 95.6%. In the 203 cases in our review, those patients who received anticoagulation therapy also had a statistically significant better outcome. Therefore, the presence of pulmonary emboli in association with sagittal sinus thrombosis mandates a sober assessment of the need of anticoagulation therapy in the absence of obvious contraindication.

Protection against ischemic hippocampal CAI damage in the rat with a new non‐NMDA antagonist, NBQX

Abstract: Two glutamate antagonists were tested in a rat model of complete, transient cerebral ischemia. Six days after 10 min ischemia the mean loss of hippocampal CA1 pyramidal neurones was 73%. Administration of the AMPA (α-amino-3-hydroxy-5-methyl-4-isoxazole proprionic acid) antagonist NBQX (2,3-dihydro-6-nitro-7-sulfamoyl-benzo(F)quinoxaline) reduced the pyramidal neurone loss to 1%, 11% and 15%, when given before, immediately after or 1 h after ischemia, respectively. Mk-801 (dizocilpine), a competitive NMDA antagonist gave no protection in this model

Treatment of myotonia with antiarrhythmic drugs

Abstract: The effects of disopyramide, phenytoin, mexiletine, and tocainide were compared in 30 patients with myotonic disorders. The severity of myotonia was assessed by clinical and electromyographic criteria at the end of each treatment phase lasting four weeks. Mexiletine (MXT) and tocainide (TCD) were found to be the most potent antimyotonic agents. The antimyotonic efficacy of MXT and TCD is explained by their fast-blocking effect on voltage-dependent sodium channels in the muscle membrane. The benefits of myotonia control with pharmacological agents must be weight against the risk of therapy in the individual patient. Because of the risks of hematologic problems, TCD is not recommended by us for the treatment of myotonia.

Epilepsy and anomalies of neuronal migration: MRI and clinical aspects.

Abstract: Neuronal migration disorders are the result of disturbed brain development. In such disorders, neurons are abnormally located. In diagnosing these conditions, magnetic resonance imaging is superior to any other imaging technique. This enables us to improve our knowledge of the clinical correlates of neuronal migration. With reference to migrational disorder, a retrospective study of all 303 patients with epileptic seizures referred for magnetic resonance imaging during a 3-year period was performed, 13 patients (aged 12-41, mean age 27) were identified. They represent 4.3% of the entire study group. Of the patients with known epilepsy, 6.7% and of the mentally retarded, 13.7% had migrational disorders. Four patients had schizencephaly as the dominant finding, one was classified as hemimegalencephaly, 2 had isolated heterotopias, and 6 had localized pachy- and/or poly-microgyria. The clinical pictures are complex. Ectopias of grey matter are recognised foci of epilepsy, but from an epileptological and a clinical viewpoint little attention has been given to these disorders. The present study shows that malmigration is not rare in epilepsy patients, especially not in the mentally retarded.

Acute demyelinating disease. Classification and non-invasive diagnosis.

Abstract: Five young patients are described with biopsy-proven acute demyelinating disease. Two cases are classified as Schilder's disease, a particular childhood form of multiple sclerosis (MS) with atypical clinical manifestation, normal or atypical CSF-findings and large bilateral lesions in magnetic resonance imaging (MRI). Two further cases presented with a fulminant bout of MS with typical clinical picture and CSF-findings; they are classified as Marburg's disease. The last case was an acute second bout of classical MS. The biopsy seemed to be justified in 4 cases, but unnecessary in the last case. Localized proton magnetic resonance spectroscopy (MRS) performed in one case allowed us to examine the focal cerebral abnormalities directly and non-invasively. The spectra revealed a pattern typical of acute demyelination suggesting potential for a replacement of biopsy in the future.

Performance in the stroop color word test in relationship to the persistence of symptoms following mild head injury

Abstract: There is much controversy about whether the persistence of postconcussive symptoms (PCS) in mild head injured patients (MHI) is related to the presence of cognitive deficits. Most studies performed so far have relied on normal non-concussed control subjects rather than directly comparing patients with and without PCS following MHI. In addition, subtle cognitive deficits may be present in MHI patients that are demonstrable only with more demanding cognitive tasks. In the present study the Stroop Color Word Interference Test together with a more demanding modified interference subtask was administered to two groups of patients with uncomplicated MHI 10 days, 5 weeks and 3 months after the injury. Ten patients with persistent symptoms at 3 months were selected and individually matched with MHI patients who had initially reported symptoms but who had recovered by 3 months. The scores of the two retrospectively defined groups were compared at the different time points. Between-subjects analysis revealed overall differences for both the original and modified color word interference subtask. Within-subject analysis indicated that only the recovery rate in the modified interference subtask was significantly different between the two groups. The observation that there was a parallel trend between recovery and persistence of PCS and performance on the cognitive interference measures supports the notion that there is a functional relationship between these two phenomena.

Effect of physical exercise on mortality in patients with Parkinson's disease.

Abstract: Public health nurses visited and followed up for more than one year 438 patients with Parkinson's disease living in Osaka. The follow-up period averaged 4.1 years, during which 71 deaths were observed. The patients were classified according to the degree of physical exercise they performed, and the ratios of observed to expected deaths were calculated. The exercising group showed the lowest ratio of 1.68 (1.45 for patients able to walk independently, and 1.89 for those could not) while all patients exhibited a ratio of 2.47. Multivariate analysis using Cox's proportional hazard model, adjusted for age, sex, walking ability and duration of disease at study entry, showed that, compared with the exercising group, the non-exercising patients had a hazard ratio of 1.83.

Neuropsychological abnormalities in patients with pituitary tumours.

Abstract: Neuropsychological assessment of 65 patients with pituitary tumours revealed impairment of memory and executive function. This did not appear to be related to the size or type of tumour or the effects of radiotherapy or surgery. It is possible that the problems arose from multiple unconnected factors but this observation lends support to the suggestion that pituitary or hypothalamic hormones have a role in the modulation of memory and behavioural pathways. Whatever the cause, neuropsychological impairment is common in patients with pituitary tumours and is an aspect of their disability which has received insufficient attention in the past.

The epilepsy of Sturge-Weber syndrome: clinical features and treatment in 23 patients.

Abstract: Introduction Sturge-Weber syndrome (SWS) is characterized by the association of a congenital facial capillary angioma with leptomeningeal angiomatosis almost always ipsilateral to the cutaneous naevus. In some cases, however, the pial angiomatosis is present without a facial angioma and such cases have the same features and course as complete forms. Epilepsy is an essential feature of SWS. It is the most common and usually the first neurological manifestation of the disorder and it is of major significance for prognosis and treatment (1, 2). Moreover, epilepsy is probably one cause of the progressive deterioration that is often observed in the syndrome (3 5) and its control by drug treatment is often difficult. We report 23 cases of SWS with epilepsy with special attention to the characteristics and course of the seizures, and attempt to review the indications and results of the various forms of treatment available.

Stereology: the fast lane between neuroanatomy and brain function--or still only a tightrope?

Abstract: Precise and unbiased quantitation of the key element of nervous tissue has solved some long-standing problems in neuroscience and the new stereological methods are now very efficient tools for experimental testing of new (and old!) ideas and concepts. Technically, the "zipless" combination of new stereological methods with certain essential principles for observation and recognition is only beginning to be made.

Sleep patterns in acute ischemic stroke.

Abstract: We studied polysomnography recordings using an Oxford Medilog 9000 System in 18 patients with ischemic stroke in the middle cerebral artery territory. All patients underwent neurologic examination and brain CT scan within 5 h after the onset of symptoms. Polysomnographic recordings were started immediately thereafter and went on for three nights. Clinical and polysomnographic follow-up were performed 3 weeks after admission. The number and duration of REM phases were significantly reduced in the acute phase. This reduction correlated with the severity of neurological deficit at outcome and with the anatomical site of the lesion on CT scan. Our data provide evidence that polysomnographic recording is useful to detect symptoms of patients with different clinical outcomes during the acute phase of ischemic stroke.

Aging and spectral analysis of EEG in normal subjects: a link to memory and CSF AChE

Abstract: We studied the effect of aging on EEG spectra recorded from T5–O1 (T6-O2) derivation. The aging series composed of 52 normal individuals aged 20 to 91 years. Seventy-nine per cent of visual and 81% of quantitative EEGs were considered normal. The absolute amplitude of delta and theta bands and absolute power of delta band were lower for the oldest group (aged 60 and over) than for the youngest group (aged 20–39 years). Age was inversely related to the amount of delta and theta indicating that the amount of slow activity in quantitative EEG does not increase with age in the context of good health status. Women had more beta activity compared with men. In addition, the amount of beta and alpha bands showed tendency for a reduction with age. Fifteen subjects aged 50 years or older participated in a 2-year follow-up including EEG and neuropsychological evaluation. Seven of them deteriorated in learning ability and showed increase in delta activity. In the oldest age group, delta amplitude was positively correlated with intrusion errors in the list learning test and inversely related to acetylcholinesterase activity of the CSF. Thus, a link between the cholinergic system, EEG slowing and memory problems in old age is suggested.

Neuropsychological assessment in MS: clinical, neurophysiological and neuroradiological relationships.

Abstract: We assessed cognitive performance and its relationship with clinical and anatomic disease severity in MS with mild to moderate handicap; 34 definite MS and 18 healthy subjects matched for age and education were submitted to a neuropsychological test battery Both groups were examined for anxiety MS patients underwent magnetic resonance imaging examination MS performed worse than controls on all WAIS-P subtests and had learning, short- and long-term verbal memory impairment Cognitive deficits were not related to abnormal emotional states, but were found to be associated with attentional process and information-processing speed impairment Cognitive impairment did not correlate with severity of physical disability The most severe memory deficits were found in patients with extensive periventricular damage

Myasthenia gravis in Hong Kong Chinese

Abstract: A territory-wide study of myasthenia gravis (MG) was conducted in Hong Kong. Two hundred and sixty-two Chinese patients (159 adult and 103 paediatric onset) were identified, corresponding to a point prevalence and period prevalence of 53.5 and 62.2 per million respectively, and an average annual incidence of 4.0 per million population. Nine patients died, 7 from MG, giving a case fatality rate of 0.027. Female predominance was present in the whole group of patients (female to male ratio 1.6:1) and in those with adult disease (ratio 2.1:1), but not in those with onset in childhood (ration 1.1:1). Onset of disease was most common in the first 3 decades of life, and became less common in subsequent decades. Juvenile onset MG occurred in 39.3% of patients and restricted ocular MG in 47.9%. Familial occurrence was found in 5 patients. In the 159 adult onset patients, ocular disease was most common (32.7%), followed by mild generalised (29.6%), moderately severe generalised (24.5%), fulminating (11.9%) and late severe disease (1.3%). The mean age of onset of symptoms was 36.7 years. The symptomatology was similar to that of Caucasoid populations. Autoimmune thyroid disease was the commonest associated disease, and the incidence of thymoma among thymic abnormalities was high at 38%.

Stereological quantitation of human brains from normal and schizophrenic individuals

Abstract: The complex organization and high density of nerve cells in the human brain presents a challenge to the estimation of total cell numbers. The first unbiased counting method, the disector, was described in 1984 and has since made it possible to accurately count total neuron numbers in any region that can be defined, while excluding artifacts of earlier counting methods. The disector method has been applied to normal neocortex and to four subcortical brain regions from schizophrenics and controls. The total neuron number in neocortex in 26 normal individuals was estimated to be 25.10(9). A 40 and 50% reduction of total nerve cell number was found in the mediodorsal thalamic nucleus and nucleus accumbens in schizophrenics, respectively. Furthermore, the Cavalieri principle has been used to estimate the volume of human cortex, white matter, central grey regions and the volume of the ventricular system in both controls and schizophrenics. As shown by these studies, the introduction of unbiased stereological methods and subsequent modifications in recent years have made it possible to estimate a number of parameters in the human brain without the biases included in most classical works. By comparison, earlier conventional counting methods have been relatively time consuming, mostly biased to a smaller or larger degree, and generally less precise. The application of these new neurostereological methods will undoubtedly provide greater confidence for future brain studies.

Familial amyloidosis of the Finnish type (FAF). A clinical study of 30 patients.

Abstract: The clinical findings of familial amyloidosis of the Finnish type (FAF) were recorded in a series of 30 patients. The onset was in the 3rd or 4th decade with slow progression so that the majority was in good health still in the 7th decade. Decreased vision and corneal lattice dystrophy together with blepharochalasis were common. Signs of cranial neuropathy especially affecting the facial nerve were found in all and peripheral polyneuropathy mainly affecting the vibration and touch senses in 26 patients. Hypotrichosis, tongue and skin changes were also characteristic. Amyloid was found in all skin, sural nerve and muscle biopsies. FAF thus shows a triad of typical neurological, ophthalmological and dermatological manifestations distinct from other amyloidoses.

Treatment of diabetic polyneuropathy

Abstract: The complications of diabetes are severe and costly. Blindness, end-stage renal disease and foot ulcers are the principal manifestations. Peripheral neuropathy makes a large contribution to the need for lower limb amputations. In addition, pain, paraesthesia, weakness and postural hypotension are direct manifestations of the peripheral neuropathy that affects a considerable proportion of diabetics. The most common patterns of neuropathy in diabetes are distal symmetrical polyneuropathy with predominant sensory involvement and autonomic neuropathy. Both are progressive disorders related to diabetes duration. Proximal motor neuropathy (diabetic amyotrophy), cranial neuropathies and the acute painful neuropathy with severe weight loss usually are self-limitating conditions unrelated to diabetes duration and with at least a partial recovery. The progressive neuropathies are the subject of many treatment studies in recent years. Their etiology is unknown, but most authors favour a metabolic and/or a vascular origin. One consequence of metabolic derangement in diabetes is the peripheral nerve accumulation of sorbitiol and fructose. This accumulation can be reduced following treatment with an aldose reductase inhibitor (ARI). Treatment of diabetic animals with ARI has prevented and reversed many of the peripheral nerve abnormalities present in the laboratory. Much effort, therefore, has been given to the development of various ARI compounds and their subsequent testing in human beings. Sorbinil, a spirohydantoin derivative improved conduction velocity slightly following nine weeks of treatment in a double-blind crossover study (1). Sorbinil also has therapeutical effects on pain but, unfortunately skin rash and a hepatotoxic effect in approximately 10% of the treated patients have halted further development of this compound. Tolrestat and ponalrestat are new ARI compounds with fewer side-effects. Tolrestat has been tested at various dosages in a placebo-controlled clinical trial of 52 weeks duration of symptomatic polyneuropathy. Again a minor improvement of conduction velocity and pain has been observed (2). A large-scale 18-month study of ponalrestat treatment in patients with peripheral neuropathy showed no improvement of nerve conduction velocities (3). Treatment with ARI is costly and in some cases associated with side-effects. At present it seems unlikely that these compounds can be applied to prevent of the development of peripheral neuropathy in large groups of diabetic subjects of whom many will never develop symptoms of the disorder. It is possible, however, that ARI treatment in the future may be used for relief of pain in selected patients. Improvement of diabetic control can be obtained either with continuous subcutaneous insulin infusion (CSII), multiple daily insulin injections or pancreatic transplantation. Studies of CSII treatment and of multiple daily insulin injections have shown that the progression of somatosensory and autonomic dysfunction can be prevented (4-7). Intensified insulin treatment can lead to severe episodes of hypoglycaemia and also to severe hyperglycaemia during periods where the CSII pump system is not applied. Therefore, CSII is not an acceptable long-term treatment for the prevention of development of peripheral neuropathy in large groups of diabetic patients. Results obtained with pancreatic transplantation show a remarkable effect on motor and sensory nerve function (8). Again this treatment is only available for a small proportion of diabetic patients. It appears that a treatment for the prevention of diabetic neuropathy that can be used by most subjects at a low cost with few side-effects is still not available. In this issue of the journal Gallai et al. report on a remarkable improvement of amplitude and

Evaluation of stroke rehabilitation by randomized controlled studies: a review.

Abstract: In all, 22 reports of 20 randomized, controlled rehabilitation studies were evaluated. In 18 of these, the design of the trial was parallel, with a cross-over format being employed in the remaining 2 instances. Seven studies related to intensive rehabilitation during the early post-acute period. In six others, specific techniques--sometimes associated with traditional physiotherapy procedures--were compared: biofeedback, perceptual retraining, and amphetamine treatment. Eight experiments evaluated speech therapy in aphasia. Frequently, methodological considerations limited the interpretation of the results. The review showed that: 1) as regards activities of daily life and motor function, differences as between rehabilitation in stroke units on the one hand and non-rehabilitation or rehabilitation in medical wards on the other, were detected in relatively few quality studies and remained particularly inconclusive insofar as life in the home environment was concerned; 2) rehabilitation for aphasia and perceptual dysfunction proved effective for at least several months after acute stroke; 3) in general, examination of the reports cited revealed no differences in the effects of biofeedback and perceptual retraining vs conventional physiotherapy; 4) rehabilitation, whether administered by specialists or amateur caregivers purpose-trained by specialists, proved equally effective for aphasia. These conclusions constitute a valuable basis for the development and evaluation of modern rehabilitation programs for stroke patients.

Driving with Parkinson's disease. A controlled laboratory investigation.

Abstract: The part played in traffic safety by illness or disability is unknown, as is the identity and degree of the disorders which necessitate the use of driving aids or completely incapacitate a person from driving. By means of a mock car, 28 persons suffering from Parkinson's disease were compared with 109 healthy controls. Only patients in presumed optimal drug regimen and without complicating disorders were included in the study group. The main results were failure to react to stimuli on several occasions, a high frequency of erroneous reactions in particular directional errors, reduced strength and speed of movement and increased reaction times. Typically the latter would entail a prolongation of the reaction distance with more than 1/3, i.e. 6 m when driving a car at a speed of 80 km/h. The Webster score proved to be an unreliable predictor of the results of the mock car test, and the UPDRS is suggested for future studies.

First seizure in adults: a prospective study from the emergency department.

Abstract: A prospective study of 98 consecutive adults with a first seizure to determine the most important etiological factors and the optimum diagnostics. 27 were thought to have cryptogenic seizures. Main causes of symptomatic seizures were: cerebral infarction, alcohol-withdrawal, CNS infections, tumors, vascular malformations, traumatism and miscellanea. Eight were infected by human immunodeficiency virus (HIV-1) representing 8.2% of all the patients with a first seizure and 20% of the 15-45-year age group. CT disclosed structural lesions in 33 cases. MRI in those with normal CT and no other explanation of seizure revealed additional lesions in 22.2%, but did not change management in any. We conclude that CT is essential in evaluation of adults with first seizure. MRI may be useful in selected cases. The HIV-infected now represent an important group with a first seizure.

Hydrocephalus, corneal opacities, deafness, valvular heart disease, deformed toes and leptomeningeal fibrous thickening in adult siblings : a new syndrome associated with -glucocerebrosidase deficiency and a mosaic population of storage cells

Abstract: We describe three adult siblings with communicating hydrocephalus, corneal opacities, deafness, valvular heart disease, and deformed toes associated with glucosylceramide (glc-cer)-beta-glucosidase deficiency. The common manifestations of Gaucher disease were not evident. Supranuclear gaze palsies characteristic of type 3 were noted from early childhood, although the major signs were undeveloped until early adult life. Autopsy disclosed thickened leptomeninges with perivascular fibrosis, non-rheumatic calcified aortic and mitral stenosis with marked fibrosis, and mild infiltration of Gaucher cells in the reticuloendothelial organs. In contrast to the slight accumulation of glc-cer in the liver and spleen, the activity of glc-cer-beta-glucosidase was markedly decreased in the tissues, as much as in a patient with type 2 Gaucher disease. Common mutations were not found in the glucocerebrosidase gene.

Sulfatide as a biochemical marker in cerebrospinal fluid of patients with vascular dementia.

Abstract: The myelin-associated glycosphingolipid sulfatide in cerebrospinal fluid (CSF) was investigated in 20 patients with vascular dementia (VAD), 43 with Alzheimer's disease (AD) and 20 age-matched controls. The sulfatide concentration in the VAD group (307 +/- 118 nmol/l) was significantly (p less than 0.0001) higher than that in controls (145 +/- 86 nmol/l) and the AD group (178 +/- 79 nmol/l). Among the VAD patients, 8/20 had a significantly increased concentration of sulfatide (greater than mean + 2 S.D.), as compared with controls, while only 2/43 of the AD patients had a sulfatide concentration above this level. It is suggested that the elevated concentration of sulfatide in CSF from VAD patients reflects demyelination. Furthermore, sulfatide determinations, when combined with clinical findings, may be of diagnostic value, for discriminating between VAD and AD.

Absence of interaction between oxcarbazepine and erythromycin

Abstract: When erythromycin (ERY) is co-administrated with the antiepileptic carbamazepine (CBZ), a drug interaction may cause an increase in CBZ plasma concentrations, which can result in CBZ related toxic symptoms. This cross-over study was designated to investigate whether ERY influences the pharmacokinetics of the new antiepileptic oxcarbazepine (OXC) and its metabolites. In 8 healthy volunteers there were no significant differences in AUC, peak plasma concentrations or time to peak concentration when OXC was administered either with or without ERY. The results of this study suggest that OXC may offer an important advantage over CBZ especially when concomitant therapy with ERY is required.