bluuebunny/crossref_metadata_2025 huggingface dataset:
Electroencephalograms of Children with Permanent Cortical Visual Impairment
Authors: Robertson Robyn , Jan James E. , Wong Peter K.H.
Published: July 2016

The electroencephalograms of 40 children with permanent cortical visual impairment (CVI) were studied. CVI was diagnosed in the presence of severe visual loss, normal or minimal ocular findings and clinical, electrodiagnostic and CT evidence of postgeniculate lesions involving the visual cortex. All patients had a multidisciplinary evaluation, including extensive neurological and ophthalmological investigations. The records did not contain any specific features which would be diagnostic of CVI. Isolated occipital spikes were rare and more commonly multifocal EEG disturbance was seen because of diffuse cerebral involvement. Photic stimulation was of little use in the diagnosis. Multihandicapped children with profound CVI tended to show multifocal abnormalities, no alpha rhythm and a suppressed posterior waking background in their EEGs, whereas those with more residual vision usually had an alpha rhythm. The presence or absence of alpha rhythm seemed to reflect the intactness of the striate cortex. However, the lack of alpha rhythm was not always associated with total blindness and not all children with useful residual vision had alpha rhythm.
Hereditary Motor Sensory Neuropathy Type I Presenting as Scapuloperoneal Atrophy (Davidenkow Syndrome) Electrophysiological and Pathological Studies
Authors: Ronen Gabriel M. , Lowry Noel , Wedge John H. , Sarnat Harvey B. , Hill Alan
Published: July 2016

A 14 year old boy with scapuloperoneal muscular atrophy, pes cavus, areflexia and distal sensory loss (Davidenkow syndrome) is described. Nerve conduction velocities were diminished. Sural nerve biopsy demonstrated a reduction in the number of myelinated fibers and early “onion-bulb” formation. These observations support the hypothesis that the scapuloperoneal amyotrophy associated with distal sensory loss may represent a variant of type I hereditary motor sensory neuropathy.
Multiple Sclerosis Presenting as Isolated Oculomotor Nerve Palsy
Authors: Uitti Ryan J. , Rajput A.H.
Published: July 2016

A 23-year old woman came to the emergency room with an isolated oculomotor nerve palsy (including pupillary dilatation) of rapid onset. Investigations and history revealed no cause. The subsequent course of events indicated a diagnosis of multiple sclerosis. While the third nerve has been shown to be involved during the course of multiple sclerosis, this is the first report of a case presenting as an isolated oculomotor nerve paralysis.
Bilateral Facial Paralysis Following Ethylene Glycol Ingestion
Authors: Mallya K.B. , Mendis T. , Guberman A.
Published: July 2016

Bilateral facial weakness, diminished hearing and dysphagia developed in a patient with a large overdose of ethylene glycol. Our case and two others previously reported draw attention to the fact that cranial nerve dysfunction, especially bilateral facial palsy, may occur in addition to encephalopathy, coma and renal failure with ethylene glycol ingestion.
Hemifacial Spasm in Childhood
Authors: Ronen Gabriel M. , Donat Jeffery R. , Hill Alan
Published: July 2016

A nine-year-old girl presented with right hemifacial spasm (HFS) of 27 months duration. Stimulation of the right supraorbital nerve produced synkinesis of the ipsilateral facial muscles. Latency and amplitude of the blink reflex were equal bilaterally. Other investigations including computerized tomography (CT) were negative. Treatment with carbamazepine was not helpful. This is the third reported case of HFS in childhood.
X-Linked Hydrocephalus
Authors: Kuzniecky Ruben I. , Watters Gordon V. , Watters Lise , Meagher-Villemure Kathleen
Published: July 2016

Two French-Canadian families with seven cases of hydrocephalus in two generations are presented. The pattern of inheritance is consistent with an X-linked recessive transmission. The clinical and pathologic characteristics of this entity are reviewed. The anomaly of adducted thumbs was present in one patient and its cause is considered. The hypothesis of primary hydrocephalus and secondary compression of the aqueduct as the mechanism for aqueductal stenosis is discussed.
Animal Models of Alzheimer's Disease: Behavior, Pharmacology, Transplants
Authors: Haroutunian V. , Kanof P.D. , Tsuboyama G.K. , Campbell G.A. , Davis K.L.
Published: July 2016

Physostigmine, oxotremorine, RS-86, and a combination of piracetam and lecithin, have all been studied in patients with Alzheimer's disease. Intravenous physostigmine produced a significant improvement in patients' ability to recognize words and particularly to distinguish words they had never seen before from words previously presented. A subgroup of Alzheimer's patients had a clinically meaningful improvement to treatment with oral physostigmine, with the degree of improvement correlating with the ability of oral physostigmine to increase the nocturnal secretion of Cortisol. No statistically significant differences of piracetam or piracetam and lecithin, compared to placebo were noted, however, the ratio of red cell to plasma choline might be associated with treatment responsivity. The potential therapeutic efficacy of oxotremorine proved all but impossible to assess due to concomitant adverse effects, particularly dysphoria. Results with another cholinergic agonist, RS-86, will be reported. This drug appeared to be better tolerated than oxotremorine.

Animals with a kianic acid induced cortical depletion of choline acetyltransferase were found to have a significant impairment in retention of a passive avoidance task, an abnormality that was readily reversible by physostigmine, oxotremorine and 4-amino-pyridine. Cysteamine, a depletor of somatostatin, also produced a comparable deficit.
The Dissolution of Language in Alzheimer's Disease
Authors: Kertesz Andrew , Appell Julian , Fisman Michael
Published: July 2016

Language impairment in Alzheimer's disease has become an important clinical issue. It has been recognized for some time that the disease may begin with aphasia and even before frank aphasia develops, some of the earliest changes in a large number of individuals consist of impairment of word fluency and semantic access manifesting itself in word finding difficulty. The second major issue concerning language in Alzheimer's disease is that the cases which have early severe language impairment may represent a more progressive familial variety of disease as it has been suggested in the literature. This is still subject to controversy. Finally, it will be documented that the later stage of the disease shows language invariably impaired and goes through stages of dissolution that resemble anomic, transcortical sensory, Wernicke's and global aphasias. Accurate assessment of language may turn out to be one of the most reliable predictors of the stages of Alzheimer's disease and provides important insights into the cerebral organization of language, semantic access, relationship of semantic and episodic memory and the pathophysiology of the disease.
Aluminum Neurotoxicity — Potential Role in the Pathogenesis of Neurofibrillary Tangle Formation
Authors: Perl Daniel P. , Pendlebury William W.
Published: July 2016

Alzheimer's disease is a progressive neurodegenerative disease characterized neuropathologically by the development of large numbers of neurofibrillary tangles in certain neuronal populations of affected brains. This paper presents a review of the available evidence which suggests that aluminum is associated with Alzheimer's disease and specifically with the development of the neurofibrillary tangle. Aluminum salts innoculated into experimental animals produce neurofilamentous lesions which are similar, though not identical, to the neurofibrillary tangle of man. Although a few reports have suggested evidence of increased amounts of aluminum in the brains of Alzheimer's disease victims, such bulk analysis studies have been difficult to replicate. Using scanning electron microscopy with x-ray spectrometry, we have identified accumulations of aluminum in neurofibrillary tangle-bearing neurons of Alzheimer's disease. Similar accumulations have been identified in the neurofibrillary tangle-bearing neurons found in the brains of indigenous natives of Guam who suffer from parkinsonism with dementia and amyotrophic lateral sclerosis. This ongoing research still cannot ascribe a causal role of aluminum in the pathogenesis of neurofibrillary tangle formation; however, it does suggest that environmental factors may play an important part in the formation of this abnormality.
Cortical Metabolism, Acetylcholinesterase Staining and Pathological Changes in Alzheimers Disease
Authors: McGeer E.G. , McGeer P.L. , Kamo H. , Tago H. , Harrop R.
Published: July 2016

The local cerebral metabolic rate for glucose (LCMRgl) was determined by positron emission tomography (PET) using the 18F-fluorodeoxyglucose method in a series of Alzheimer patients and normal controls. The LCMRgl declined in the cerebral cortex with age, but the decrement was significantly greater in the clinically diagnosed Alzheimer's cases. Comparison of PET and psychological data indicated that, as the disease progressed clinically, the reduction in cortical LCMRgl and the number of cortical regions involved also increased. Variable regions of cortex were involved in the early stages but the temporal, parietal and frontal regions were most typically affected. One case coming to autopsy showed that the severity of the LCMRgl decline paralleled loss of neurons in the cortex and their replacement with astroglia.

A case of Pick's disease coming to autopsy had shown a different and highly characteristic pattern of cortical metabolic defect. In this case also a poor metabolic rate was associated with extensive gliosis.

Acetylcholinesterase (AChE) staining of the cerebral cortex in elderly normals and Alzheimer's disease cases with a new, highly sensitive method showed that in Alzheimer's disease there was an extensive loss of AChE-positive fibers with senile plaques frequently incorporating AChE-positive fiber debris. AChE staining of the substantia innominata area, where the cells giving rise to these neocortical fibers are presumably located, also showed evidence of degenerating cells and fibers.
Dementia in Movement Disorders
Authors: Teräväinen H. , Hietanen M. , Stoessl J. , Calne D.B.
Published: July 2016

Of all the movement disorders, Huntington's disease has been most consistently associated with dementia, while it is only over the last decade that intellectual and cognitive decline have been recognized as common features of Parkinson's disease. It is now known that the pathology in these two conditions reflects differential involvement of the striatum. The Huntington lesion is primarily in the caudate, while the Parkinson lesion preferentially affects the putamen. Both conditions have more diffuse pathology, and dementia may also occur in a wide range of other extrapyramidal diseases, such as progressive supranuclear palsy, the parkinsonism-dementia complex of Guam, and certain spinocerebellar degenerations. Clinicopathological correlations will be reviewed in these disorders of primarily subcortical pathology, and comparisons will be made with Alzheimer's disease, a disorder of predominantly cortical pathology.
Environmental Risk Factors for Parkinson's Disease: The Epidemiologic Evidence
Authors: Schoenberg Bruce S.
Published: July 2016

Descriptive data from several studies suggest variations in the frequency of Parkinson's disease in different population groups. Door-to-door surveys were carried out among a biracial U.S. population (blacks and whites) and in communities in Nigeria and the People's Republic of China. The U.S. investigation revealed no substantial differences in the age-adjusted prevalence ratios by race. However, blacks in Nigeria have a much lower prevalence ratio than blacks in the U. S., suggesting an environmental etiologic factor. Prevalence ratios derived from China are also lower than the U.S. figures. Studies of temporal trends in the incidence rates in one U.S. population (Rochester, Minnesota) show virtually no change over 35 years, indicating that the primary cause(s) of Parkinson's disease must have been present in this nonindustrialized community for many years. Analytic studies generally reveal an inverse association between Parkinson's disease and cigarette smoking, although epidemiologic evidence does not support a direct protective effect of smoking. Preliminary investigations suggest an increased risk associated with the rural environment and the consumption of well water. Further studies are required to discover as yet unknown environmental factors that heighten the risk of Parkinson's disease.
Geography, Drinking Water Chemistry, Pesticides and Herbicides and the Etiology of Parkinson's Disease
Authors: Rajput A.H. , Uitti Ryan J. , Stern W. , Laverty W. , O'Donnell K. , O'Donnell D. , Yuen W.K. , Dua A.
Published: July 2016

In 1984 we made the first observation of a correlation between early age exposure to rural environment (and drinking well water) and development of idiopathic Parkinson's disease (IPD).13 These findings were subsequently confirmed elsewhere (Barbeau, 1985 ;25 Tanner, 198526). Analysis of all early age onset IPD (EPD) cases born and raised in Saskatchewan revealed that 20 of 22 had exclusively rural exposure during the first 15 years of life. This distribution was significantly different from the general population (p = 0.0141). Further study of the EPD group included sampling and metal analysis of childhood sources of drinking water in 18 cases and 36 age and sex-matched controls. Water collected from the two groups was analyzed for 23 metals (including 7 elements implicated in the etiology of IPD). There was no difference in the metal composition of the water between the two groups.17 Finally, a review of herbicide and pesticide use in Saskatchewan agriculture was undertaken to determine if there was an increased incidence of EPD following utilization of any particular chemical. No increase was found in the incidence of EPD with the introduction of any pesticide or herbicide, including Paraquat, for agricultural use. We conclude that there is a strong correlation between early age rural environmental exposure and development of IPD. We believe well water is a likely vehicle for the causal agent, but neither water metal concentration nor any of the herbicides and pesticides used in Saskatchewan agriculture are related to the cause.
Update on Dopamine Agonists in Parkinson's Disease: “Beyond Bromocriptine”
Authors: Lang Anthony E.
Published: July 2016

Since the initiation of bromocriptine therapy for Parkinson's disease several newer dopamine agonists have been developed. Pergolide has reached the stage of Phase 3 clinical trials and will probably be available for general use sometime in the foreseeable future. Lisuride shows most promise in its parenteral form for infusion therapy of patients with severe fluctuations. Mesulergine, another ergot-derivative and ciladopa, a new non-ergot agonist, have been withdrawn from further clinical use due to tumorogenesis in rats. It is questionable how applicable these findings are to the use of the drugs in elderly humans with parkinsonism. Recently a small number of drugs have been found to have postsynaptic dopamine agonist properties only in the setting of denervated supersensitive dopamine receptors. These agents may be particularly effective in the early treatment of patients with Parkinson's disease. This paper will review a number of the dopamine agonists which have been developed since the introduction of bromocriptine therapy. Several of these have shown beneficial effects in early clinical trials while others show promise in preclinical studies of animal models of parkinsonism.
Action of 5-Hydroxytryptamine, Substance P, Thyrotropin-Releasing Hormone and Clonidine on Motoneurone Excitability
Authors: Bédard Paul J. , Tremblay L.E. , Barbeau H. , Filion M. , Maheux R. , Richards C.L. , DiPaolo T.
Published: July 2016

We have investigated the influence on the excitability of lumbar motoneurons of 5-hydroxytryptamine (5-HT), substance P and thyrotropin releasing hormone (TRH), three substances which coexist in the same bulbospinal descending pathway and end in large part around motoneurons. We have also studied the effect of clonidine, an alpha 2 noradrenergic agonist. This was done in spinalized rats (T5) treated three weeks before with 5-7-dihydroxytryptamine. Under those circumstances 5-HTP (LP.), 5-HT (intrathecally) TRH (LP. or I.T.) and substance P (I.T.) all elicited a strong excitation of motoneurons as measured by integrated EMG of the hindlimb muscles. Substance P reduced by almost half the subsequent response to 5-HTP, 1 hour and 24 hours later. TRH given acutely did not modify the response to 5-HTP but given chronically for twenty one days by means of Alzet minipump, markedly increased the response to 5-HTP. Clonidine by itself decreased the excitability of motoneurons and antagonized the excitatory effect of 5-HTP and TRH. In a pilot trial, cyproheptadine, a 5-HT antagonist was shown to decrease the manifestations of spasticity in patients with a partial spinal lesion. Clonidine also appears to be of potential use in the treatment of spasticity.
Valproic Acid and Plasma Levels of Primidone and Derived Phenobarbital
Authors: Bruni J
Published: July 2016

Five patients were studied to determine whether kinetic interaction occurs between valproic acid and primidone. During concurrent administration of primidone and valproic acid no significant interaction was observed. Primidone and derived phenobarbital levels did not change significantly. No adjustment of primidone dose was required when valproic acid was used as adjunctive therapy.
Experimental Porphyric Neuropathy: A Preliminary Report
Authors: Sima Anders A.F. , Kennedy James C. , Blakeslee Dennis , Robertson David M.
Published: July 2016

An experimental model for the study of porphyric neuropathy is presented. Injection of either tetraphenylporphinesulfonate (TPPS), hematoporphyrin derivative (HpD), or delta-aminolevulinic acid (ALA) into mice resulted in markedly decreased motor nerve conduction velocity (MNCV). The MNCV returned to normal within one week following the injection of large doses of A LA, and within three weeks following the injection of close to lethal doses of HpD. hut there was no recovery of nerve function within 60 days following injection of substantially smaller doses of TPPS. Ultrastructural examination of motor nerves at various times following TPPS injection revealed the gradual development of structural abnormalities. Ultrastructional examination of the same nerves after a single dose of either A LA or Hp D failed to demonstrate any abnormalities.

The present observations call for precaution as to the use of TPPS as photosensitizer in human cancer treatment.
Extraneural Metastases of a Cerebral Astrocytoma
Authors: Hoffman Harold J. , Becker Larry E. , Jenkin Derek , Chuang Sylvester H. , Munro Ian R.
Published: July 2016

Extraneural spread of a cerebral glioma has been described infrequently. The present case provides an example of this unique mode of metastasis.
Chronic Levodopa and Renal Function
Authors: Hoehn Margaret M.
Published: July 2016

Renal function studies were performed in seventeen patients, under metabolic ward conditions, before the initiation of therapy with levodopa. These studies were repeated during the first two to three weeks of treatment and, again, after one to two years of chronic therapy. There were no significant differences between the results of pre- and post-therapy studies, except that the blood urea nitrogen was slightly, but significantly, elevated in the nine patients who had been on the drug for one to two years. During the early weeks of treatment, there was an insignificant trend towards hypotension and increased excretion of sodium. This did not persist in those patients followed for one to two years after the initiation of treatment. Glomerular filtration rate, as measured by an endogenous method, was unchanged by chronic therapy with levodopa. These results are in contrast to the acutely increased glomerular filtration rate, as measured by an exogenous method, and the increased sodium excretion following a single dose of levodopa or dopamine.
A Case of Huntington’s Chorea With Unilateral Ectopic Gray Matter
Authors: Nauta Haring J.W. , Platts M.E.
Published: July 2016

The authors report a single case of Huntington’s chorea associated with a unilateral focus of ectopic gray matter. The patient’s symptoms began at age 45 and included typical involuntary jerking movements of all extremities and face. Mental deterioration may have proceeded the choreiform movements. The family history was positive for Huntington’s chorea. Pneumoencephalogram showed atrophy of the caudate nuclei bilaterally early in the disease. The patient improved transiently with haloperidol therapy.

The major pathologic features included mild generalized cerebral atrophy with marked atrophy of the caudate nuclei and putamen. Within the white matter of the left frontal lobe, there were irregular nodules of ectopic gray matter with an overall diameter of 2 cm.

The rarity of either unilateral ectopia or Huntington’s chorea alone, makes it impossible to judge if the two lesions might be linked by a common pathologic mechanism. The significance such a linkage might hold is discussed in light of several currently postulate pathologic mechanisms.
Intraoperative Regional Cerebral Blood Flow During Carotid Endarterectomy
Authors: Rowed David W. , Vilaghy Miklos I.
Published: July 2016

Regional cerebral blood flow (rCBF) during internal carotid artery (ICA) occlusion for endarterectomy can be measured without inconvenience using the probe holder illustrated.

When mean ipsilateral hemispheric CBF exceeds 20 ml/100 gm/min, an intraluminal bypass is not necessary (63% of patients), except in patients with extensive cerebrovascular disease in whom rCBF should also exceed 20 ml/100 gm/min in all areas. ICA “stump” pressure is falsely high in about 20% of patients, and is therefore not a dependable criterion for selecting patients who need shunting.

While intraoperative shunting is capable of restoring pre-occlusion CBF levels, it does not eliminate the risk of intraoperative ischemic neurological deficit of probable embolic origin.
Effects of Ethyl Ester Derivatives of Valproic Acid Metabolites on Pentylenetetrazol Seizures in Mice
Authors: Bruni J. , Hammond E.J. , Wilder B.J.
Published: July 2016

The anticonvulsant activity of the ethyl esters of the major valproic acid metabolites was assessed against minimal pentylenetetrazol seizures in adult male ICR mice. The ethyl ester 3-hydroxy-propylpentanoic acid was found to possess significant anticonvulsant activity.
Plasma Exchange of Malignant Multiple Sclerosis
Authors: Warren K.G. , Gordon P.A. , McPherson T.A.
Published: July 2016

A 17-year old female with “malignant” multiple sclerosis died 45 weeks after the onset of the disease. Postmortem examination confirmed the clinical diagnosis of multiple sclerosis. After 30 weeks of rapid clinical progression, the patient was treated with two courses of plasma exchange therapy without immunosuppression. This form of therapy caused a drop in cerebrospinal fluid myelin basic protein levels in one instance, but not in another. Controlled clinical trials are required to determine whether plasma exchange therapy is of value in the management of patients with multiple sclerosis, and the monitoring of cerebrospinal fluid myelin basic protein, if elevated, may be one useful marker to follow as part of these studies.
Cerebrospinal Fluid and Blood Thiamine Concentrations in Phenytoin-Treated Epileptics
Authors: Botez M.I. , Joyal Claude , Maag Urs , Bachevalier Jocelyne
Published: July 2016

Thiamine and folate levels in blood and cerebrospinal fluid (CSF) were determined by microbiological assays in 23 control subjects and 11 phenytoin-treated epileptics. There was no significant difference between the two groups for serum and CSF folate levels. There was, however, a statistically significant difference between the groups for both whole blood thiamine and CSF thiamine levels. Epileptic patients being treated with phenytoin had lower values than control subjects (p < 0.001)
La Méningite de Mollaret
Authors: Saint-Martin M. , Duplantis F. , Laverdière M. , Lachapelle J. , Rousseau S. , Roy L.E. , Boileau J.
Published: July 2016

Clinical and biological aspects of a case of Mollaret meningitis are reported. Some of the typical characteristics observed in the CSF of this rare entity will be discussed.
Electrophysiological Investigation of the Auditory System in Friedreich’s Ataxia
Authors: Taylor M.J. , McMenamin J.B. , Andermann E. , Watters G.V.
Published: July 2016

Auditory brainstem responses (ABRs) and cortical auditory evoked responses (AERs) were studied in a series of 16 Friedreich’s ataxia patients who varied in age, degree of clinical involvement and duration of the disorder. The ABRs were markedly abnormal in all but the youngest patient, and the abnormalities reflected the severity and duration of the disease. The latencies of the AERs were significantly longer in the Friedreich’s ataxia patients compared to normal controls, suggesting cortical as well as peripheral involvement of the auditory system. These data are discussed in terms of the neuropathology of the disorder and the similarities with the other sensory systems in Friedreich’s ataxia patients.
Effect of Gamma-Vinyl GABA in Friedreich’s Ataxia
Authors: Smet Y. De , Mear J.Y. , Tell G. , Schechter P.H. , Lhermitte F. , Agid Y.
Published: July 2016

Gamma-Vinyl GABA, an irreversible inhibitor of GABA-transaminase, was administered orally in two daily doses of 250 mg to 10 patients with cerebellar ataxia (9 with Friedreich’s ataxia, one with olivo-ponto-cerebellar atrophy) for at least one month in an open study. No significant difference occurred in the disability scores of cerebellar symptomatology for the group as a whole, but seven patients showed some improvement in scores with treatment and two patients claimed marked subjective amelioration. Tolerance to Gamma-Vinyl-GABA treatment was excellent. These preliminary results suggest that further studies with well-tolerated agents which enhance CNS GABA-ergic function are warranted in patients with cerebellar ataxia.
Plasma Catecholamines in Friedreich’s Ataxia Assayed using High Performance Liquid Chromatography with Electrochemical Detection
Authors: Merkel A.D. , Barbeau A.
Published: July 2016

Resting levels of plasma norepinephrine, epinephrine and dopamine were determined in 9 patients diagnosed as having Friedreich’s Ataxia using a relatively new assay method, HPLC with electrochemical detection. Levels of norepinephrine and dopamine were found to be significantly elevated in patients as compared to controls while epinephrine, though increased, was not significantly higher. These results confirm in most parts previous findings of Pasternak et al. of increased plasma catecholamines and demonstrate the sensitivity and utility of the present method for the routine assay of plasma catecholamines.
Quantitative Metabolic Profiling ofα-Keto Acids in Friedreich’s Ataxia
Authors: Bertrand M.J. , Bouchard R. , Gauthier G.L. , Bouchard J.P. , Barbeau A.
Published: July 2016

The plasma distribution of α-keto acids was measured in 26 subjects including 8 patients with Friedreich’s ataxia, 8 with the recessive spastic ataxia of Charlevoix-Saguenay and 10 healthy volunteers. The groups were matched with regards to age, sex, weight and the study was conducted under standardized dietary intake. The results indicate significant differences in α-keto acids distribution between the groups.
Leukocyte Valine Dehydrogenase Activity in Friedreich’s Ataxia
Authors: Barbeau A. , Cloutier T. , Charbonneau M.
Published: July 2016

We studied the activity of valine dehydrogenase (VDH) in leukocytes of 14 Friedreich’s ataxia patients and of 14 normal control subjects. There was a significant 26% mean decrease in enzyme activity in the patients, a finding which could be responsible for the chronic accumulation of some α-keto acids with toxic metabolic consequences in that disease. However the deficiency was not present in all patients with the typical symptoms, nor was its magnitude sufficient to be considered the primary genetic defect in Friedreich’s A taxia.
Friedreich’s Disease 1982: Etiologic Hypotheses A personal analysis
Authors: Barbeau André
Published: July 2016

The author reviews the arguments for and against the four etiologic hypotheses in Friedreich’s disease that have been proposed since 1974: the “pyruvate hypothesis”, the “lipidmembrane hypothesis”, the “energy-defect hypothesis” and finally the “taurine hypothesis”. While none of these hypotheses are mutually exclusive, the author shows that all of these mechanisms play some role in the pathophysiology of the symptoms, but that only the “taurine hypothesis” appears to be compatible with all the known facts and the biochemical abnormalities reported. The author proposes that ataurine retention defect(possibly due to a block in the high affinity-low capacity transport of taurine – The TH System) is a primary event in Friedreich’s disease. Whether it istheprimary genetic event still has to be determined.
Anticholinergics in Adult-Onset Focal Dystonia
Authors: Lang Anthony E. , Sheehy Michael P. , David Marsden C.
Published: July 2016

Anticholinergics are one of the most common treatments used in adult-onset focal dystonias although their general efficacy has not been proven. We have investigated the effects of intravenous administration of atropine, benztropine and chlorpheniramine, in comparison to normal saline, in 20 patients with adult-onset focal dystonias (spasmodic torticollis (9), cranial dystonia (6), writer’s cramp (5)), and have retrospectively reviewed the notes of 78 patients (spasmodic torticollis (38), cranial dystonia (25), writer’s cramp (15)), who had received chronic oral anticholinergic therapy in varying doses at some time in the past. Patients with spasmodic torticollis and writer’s cramp showed no consistent change with any of the intravenous drugs, while the few with cranial dystonia who improved usually did so at the expense of drug-induced sedation. The natural variability of these disorders was evident in the response to normal saline, which caused changes in the scores for severity of the involuntary movements of 20% or more in some patients. Only 8 of the patients who had received chronic oral therapy obtained more than mild benefit, and in 3 of them this improvement was transient. We conclude that cholinergic mechanisms are not of general or prime importance in the pathogenesis of adult-onset focal dystonias. However, each new patient warrants a trial of chronic oral anticholinergic therapy in view of the occasional useful responses obtained with these drugs.
Flash Electroretinogram Abnormalities in Patients with Clinically Definite Multiple Sclerosis
Authors: Coupland Stuart G. , Kirkham Trevor H.
Published: July 2016

We studied the flash electroretinograms (ERGs) of 105 patients with multiple sclerosis who were divided into four groups. The first group had no history or clinical evidence of optic nerve dysfunction, the second and third groups had either left or right optic nerve disease respectively, and the fourth group had historical or clinical evidence of bilateral optic nerve disease.

Statistical analysis of the data using analysis of variance (ANOVA) showed that the group of patients with no history or clinical evidence of optic nerve disease had no significant difference from the control group for their peak b-wave implicit times but the other three groups were significantly delayed on the affected side(s). Using the Mann-Whitney U-test we found all four patient groups had significantly greater absolute interocular latency differences from the control group. The electroretinal contribution to flash VEP delay was also investigated. In those patients with unilateral or bilateral optic nerve disease we found that in 14–31% of those patients with flash VEP delay there was also abnormal prolongation of the ERG b-wave. These results confirm a high incidence of retinal dysfunction in multiple sclerosis patients and may suggest that transynaptic degeneration of retinal structures occurs in optic nerve demyelination. The significant absolute interocular latency difference in particular may provide another electrophysiological parameter to establish a diagnosis of multiple sclerosis in suspect cases.
Benign Familial Neonatal Convulsions
Authors: Dobrescu Otilia , Larbrisseau Albert
Published: July 2016

Benign familial neonatal convulsions are a rare genetic seizure disorder inherited as an autosomal dominant trait. They consist of brief episodes of seizures, recurring during the first few days or weeks of life in otherwise normal babies; their prognosis is good. We report a family in which at least 12 members in three generations presented with this condition; they all had an excellent outcome.
Clinical – Radiological Correlates in Intracerebral Hematomas due to Aneurysmal Rupture
Authors: Benoit B.G. , Cochrane D.D. , Durity F. , Ferguson G.G. , Fewer D. , Hunter K.M. , Khan M.I. , Mohr G. , Watts A.R. , Weir B.K.A. , Wheelock W.B.
Published: July 2016

In this series of intracerebral hematomas from aneurysmal rupture, gathered from several neurosurgical services, certain morphological features were studied in detail. Patients with very large hematomas tended to have poor neurological grades on admission to hospital and their immediate discharge outlook was correspondingly poor. Ruptured middle cerebral and pericallosal artery aneurysms were relatively common causes of intracerebral hematomas. Patients with temporal lobe hematoma did relatively well; those with parietal hematoma did poorly. The larger the hematoma the less chance there was of developing cerebral vasospasm but the more likely was pre-operative brain herniation. The survival was more closely linked to size and location of the hematoma than to the location of aneurysm or the degree of midline shift.
Multiple Sclerosis and Diabetes Mellitus: Further Evidence of a Relationship
Authors: Warren Sharon A. , Warren K.G.
Published: July 2016

One hundred multiple sclerosis (MS) patients were compared to healthy controls to determine the prevalence of diabetes mellitus in their families. Significantly, more MS patients than controls were diabetic or reported at least one first degree relative (parent, sibling, child) with diabetes. The relationship between MS and diabetes persisted when second degree relatives (grandparents, aunts and uncles) were taken into consideration.

A greater percentage of MS patients with another MS relative were diabetic or reported a first degree relative with diabetes mellitus than MS patients without an MS relative. However the difference was not statistically significant. Nor was there a significant difference when percentages reporting either a first or a second degree relative with diabetes were compared.
Adrenoleukodystrophy
Authors: O’Neill Brian P. , Moser Hugo W.
Published: July 2016

Adrenoleukodystrophy (ALD) is an X-linked degenerative disease characterized by progressive demyelination and adrenal insufficiency. Several phenotypes are described. In post-mortem tissues there is an accumulation of saturated or mono-unsaturated very long chain fattyacids (VLCFA) in the cholesterol ester fraction of adrenal cortex and cerebral white matter. The accumulated fatty acids are unbranched with carbon chain length between 23 and 32 with most containing 25 or 26 carbons. Determination of VLCFA in readily accessible tissues such as skin fibroblasts and plasma allows for reliable detection of patients and carriers.
Homovanillic Acid in the Cerebrospinal Fluid of Parkinsonian Patients
Authors: Cunha L. , Gonçalves A.F. , Oliveira C. , Dinis M. , Amaral R.
Published: July 2016

Determinations of CSF HVA before and after Probenecid administration were made in 41 patients with Parkinson’s disease. The means of HVA concentration were lower than those of controls but no correlation with clinical data was found. A negative correlation was demonstrated between post-probenecid HVA levels and subsequent score improvement with L-DOPA at 3,6 and 12 months. Post-probenecid HVA levels suggest that there are distinct forms of parkinsonism and could predict the response to L-DOPA therapy.
C.T. Aided Stereotaxy for Depth Electrode Implantation and Biopsy
Authors: Peters T.M. , Olivier André
Published: July 2016

We describe a computer program which facilitates the analysis of a series of C.T. scans made while a stereotaxic frame is fixed to the patient.

The program has 2 modes of operation:

a) The operator may select a region and determine the three-dimensional frame coordinate.

b) The operator may select a set of frame coordinates and have the computer program display these at the appropriate sites on the C.T. scans. If these sites are the positions of depth electrodes, then a recording of the epileptic spike activity may be displayed at the appropriate sites on the scans.
EEG Abnormalities and Convulsions in Juvenile Diabetes Mellitus
Authors: Keene D.L. , Metrakos K. , Belmonte M. , Watters G.V. , Singer S.
Published: July 2016

The clinical and EEG findings were reviewed for 270 juvenile children from the Montreal Children’s Hospital Diabetic Clinic in an attempt to correlate the EEG findings at the onset of diabetes mellitus with the future risk of having a convulsion with a hypoglycemic reaction. Compared to a non-diabetic control population, the number of epileptiform EEG abnormalities was significantly increased in the initial EEG of diabetic patients who later had a hypoglycemic convulsion. The initial epiliptiform EEG did not help to differentiate those diabetics with recurrent hypoglycemic induced convulsions from diabetics who would have only a single convulsion.
The Discovery, Proof and Reproof of Neurosecretion: (Speidel, 1917; Scharrer and Scharrer, 1934)
Authors: Sarnat Harvey B.
Published: July 2016

Seventeen years before the Scharrers demonstrated neurosecretory activity of neurons within the brains of vertebrates and invertebrates and convinced the scientific world of the existence of a neuroendocrine system, Carl Caskey Speidel (1917) had identified glandular neurons in the spinal cord of the skate, postulated a neurosecretory function, and performed experiments to prove his hypothesis. The correct conclusions that he formulated from morphologic observations were not believed by biologists until ‘proved’ by the Scharrers, who acknowledged his pioneering contributions. The Scharrers studied many species and even demonstrated neurosecretion in nemertine worms, now believed to be closely related to the ancestors of all vertebrates. Evolutionary theorists had speculated on neuroglandular function as early as 1900, and the contributions of comparative neuroanatomists to this field have resulted in a major medical advance.
Myelin Basic Protein: A Component of Circulating Immune Complexes in Multiple Sclerosis
Authors: Dasgupta Mrinal K. , Catz Ingrid , Warren Kenneth G. , McPherson Thomas A. , Dossetor John B. , Carnegie Patrick R.
Published: July 2016

Myelin basic protein (MBP) is an antigenic component of circulating immune complexes (CIC) in patients with multiple sclerosis (MS). Immune complexes were isolated from the sera by adsorption to Raji cells and then acid eluted. Final identification of MBP from Raji eluates was done by sodium dodecyl sulfate-polyacrylamide gel electrophoresis (SDS-PAGE) followed by MBP radioimmunoassay (RIA) of gel eluates and by an immunoblot technique.
Multimodal Electrophysiological Assessment of Ataxia Telangiectasia
Authors: Taylor Margot J. , Logan William J.
Published: July 2016

We report multimodal evoked response studies in eleven children with ataxia telangiectasia. The ABRs were normal in all but one patient despite the severity of the disorder. The SERs were abnormal in all of the patients, the waveforms being either absent or of delayed latency, the abnormalities were more marked in the older patients. Abnormal motor and sensory nerve conduction studies were also found in all but the younger few patients. Most notably, the VERs were abnormal in all but 2, the older patients had delayed VERs and most had small amplitude responses. The electrophysiological profile of ataxia telangiectasia patients on the multimodal evoked responses differs from that found in certain other degenerative ataxias studied and may have some diagnostic utility.
Electrophysiological Studies in Five Cases of Abetalipoproteinemia
Authors: Lowry N.J. , Taylor M.J. , Belknapp W. , Logan W.J.
Published: July 2016

Auditory brainstem responses (ABRs), visual and somatosensory evoked responses (VEPs and SEPs) and nerve conduction studies were conducted in 5 patients with abetaiipoproteinemia. The ABRs were normal in all cases. The VEPs were of normal amplitude but of increased latencies in two patients. The four eldest patients had delayed cortical SEPs but normal peripheral sensory nerve conduction studies. The peripheral motor conduction velocities were normal in all cases. The peripheral sensory studies showed normal velocity when a response was seen; however, the amplitude of the response was often reduced or it was absent. The electrophysiological studies reported here support a model of axonal loss of large myelinated fibres with secondary demyelination in abetaiipoproteinemia.
Rupture of an Experimentally Induced Aneurysm in a Primate
Authors: Espinosa F. , Weir B. , Noseworthy T.
Published: July 2016

Cerebral aneurysms are extremely rare in all animals except man. We report the occurrence of a carotid-ophthalmic aneurysm in a cynomolgous monkey two months following accidental occlusion of the ipsilateral cervical internal carotid artery. This was documented angiographically. The aneurysm was deliberately ruptured by the insertion and withdrawal of fine needles. This produced a large subarachnoid hemorrhage visualized on CT scan. There was a progressive severe fall in cerebral blood flow and moderate vasospasm. The neurological status deteriorated on the tenth day and the animal was sacrificed on day 13. On electron microscopy, the aneurysm showed a fibrous wall, and the endothelium showed balloon-like endothelial cells with gaps. Corrugations occurred in the inner aspect of the anterior circulation arteries.
Hydrocephalus and Headaches in Paget’s Disease of the Skull: Complete Relief by Ventriculo-Atrial Shunt
Authors: Hausser Chantal , Ouaknine Georges Elie , Sylvestre Jacques
Published: July 2016

A 76 year old patient with a long history of headaches was found to have Paget’s disease and communicating hydrocephalus. There were (otherwise) no neurological or musculo-skeletal manifestations of Paget’s disease, but moderate impairment of intellectual function was present. Treatment with disphosphonates did not bring any significant improvement, but three days following a ventriculo-atrial shunting procedure, the patient became headache-free for the first time in several years.

In the literature, patients with hydrocephalus have been shown to respond quite unevenly to atrio-ventricular shunting, but in most instances the descriptions concerned advanced cases with well-established symptoms of dementia, ataxia and incontinence. Our case is reported to stress the importance of early diagnosis and management of hydrocephalus in Paget’s disease for the prevention of widespread neurological dysfunction.
The Andermann Syndrome: Agenesis of the Corpus Callosum Associated with Mental Retardation and Progressive Sensorimotor Neuronopathy
Authors: Larbrisseau Albert , Vanasse Michel , Brochu Pierre , Jasmin Gaétan
Published: July 2016

Andermann et al. described in 1972 an autosomal recessive inherited syndrome which associates agenesis of the corpus callosum, mental deficiency, and a peripheral motor deficit. We had the opportunity to study in detail 15 patients affected by this syndrome. As in the cases previously reported, the families of these children all originated from Charlevoix County and the Saguenay-Lac St-Jean area in the Province of Quebec.

Clinically, these patients have a characteristic facies and moderate mental retardation associated with a progressive motor neuropathy leading to loss of ambulation by adolescence and progressive scoliosis. In 13 of these 15 patients, neuroradiological investigation has shown either total or partial agenesis of the corpus callosum. In every patient in whom these tests were done, sensory nerve action potentials were absent and motor nerve conduction velocities reduced. We also found neurogenic abnormalities both on EMG and neuromuscular biopsies. These abnormalities are similar to those described in Friedreich’s ataxia and in hereditary motor and sensory neuropathy type II, although in our patients the motor deficit is much more severe than in these diseases.

The pathogenesis of the peripheral nervous system involvement is still unknown since there have so far been no autopsy studies of this syndrome.
Posterior Column Dysfunction in Cervical Spondylotic Myelopathy
Authors: MacFadyen D.J.
Published: July 2016

Five patients had cervical spondylotic myelopathy (CSM) with severe prorioceptive sensory loss in the upper and lower limbs. Despite an advanced age, each recovered considerable function following cervical laminectomy, in follow-up periods of 10 to 40 months. The role of newer methods of investigation including CT scanning, somatosensory evoked responses and nuclear magnetic resonance is discussed. The cause of the proprioceptive sensory loss in these patients cannot be definitively determined, but various ischemic and compressive lesions are discussed as possible pathogenetic mechanisms.
Management of Acute Subdural Hematomas from Aneurysmal Rupture
Authors: Weir Bryce , Myles Terence , Kahn Moe , Maroun Falah , Malloy David , Benoit Brien , McDermott Michael , Cochrane Douglas , Mohr Gerard , Ferguson Gary , Durity Felix
Published: July 2016

Subdural hematomas (SDH) from ruptured aneurysm (RA) are much less common than intracerebral (ICH) hematomas or subarachnoid (SAH) or intraventricular hemorrhage (IVH). With computerized tomography, preoperative diagnosis is now made more often. The authors have collected 18 such cases from a review of 897 cases of RA admitted to eleven medical centers in 1980 and 1981. Nine (50%) of these patients died prior to discharge from hospital. Four (22%) had surgery and died postoperatively and 9 (50%) were operated upon and survived. Thirteen (72%) of the patients showed anisocoria, decreased consciousness and unilateral weakness prior to surgery. Eight (89%) of the fatalities had shown preoperative herniation as opposed to only 5 (56%) of the survivors. The overall incidence of delayed ischemia due to vasospasm was 11% (2 cases). Those who died had greater midline shift and larger SDH on the admission CT scan. Sixteen (89%) of these patients were female. Thirteen (72%) had ruptured aneurysms on the internal carotid artery. All of these hematomas were unilateral and uniformly hyperdense, and the convexity hematomas were crescentic in shape. Seventeen (94%) had evidence of blood in locations other than the subdural space. If the patient is potentially salvageable and has a midline shift, the SDH should probably be evacuated immediately and the aneurysm clipped at the same operation since the development of a tentorial herniation has such an adverse effect on outcome.