bluuebunny/crossref_metadata_2025_split huggingface dataset:
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

SUMMARY: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

ABSTRACT: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

SUMMARY: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

SUMMARY: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

SUMMARY: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

SUMMARY: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

SUMMARY: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

SUMMARY: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

SUMMARY: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

SUMMARY: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

SUMMARY: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

SUMMARY: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

SUMMARY: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

SUMMARY: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

SUMMARY: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

SUMMARY: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

SUMMARY: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

SUMMARYAuditory 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

SUMMARYCerebral 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

SUMMARYA 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

ABSTRACT: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

ABSTRACT: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

ABSTRACT: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.
Pharmacological Modification of Blood-Brain Barrier Permeability Following a Cold Lesion
Authors: Raymond Jennifer J. , Robertson David M. , Dinsdale Henry B. , Nag Sukriti 
Published: July 2016

ABSTRACTThe effect of desipramine, imidazole, thioridazine and trifluoperazine on blood-brain barrier(BBB) permeability after a 24 hour cold lesion was studied in rats. Changes in BBB permeability were determined using a quantitative horseradish peroxidase (HRP) assay. The four drugs tested did not alter the quantity of HRP in the cortex of control animals, or in the contralateral cortex of test animals. However, imidazole, desipramine and trifluoperazine significantly reduced the HRP extravasation in and around the cold lesion. Several mechanisms for this effect are suggested; one possible mechanism common to all these drugs is the reduction of increased vesicular transport in cortical vessels adjacent to the cold lesions.