bluuebunny/crossref_metadata_2025 huggingface dataset:
Myotonic Dystrophy in Quebec: Geographical Distribution and Concept of Genetic Homogeneity
Authors: Laberge Claude
Published: July 2016

The geographical distribution relative to place of residence of patients with myotonic dystrophy (MD) and admitted to a Quebec hospital during a five year period (1980-1984) is presented and discussed. The sample consists of 72 males and 68 females of varying ages over 10 years. Analysis of the data shows a North Shore distribution of patients in a cline from Saguenay-Lac-St-Jean, through Quebec City and to Montreal. However, a low prevalence is apparent on the South Shore, east of Québec City, for which an historical and genealogical explanation are discussed. This geographic distribution favours the hypothesis of genetic homogeneity for the MD gene in the Quebec population. A stronger second argument comes from genealogical studies of 10 families sampled from the Chicoutimi Muscular Dystrophy Clinic. Genealogical paths traced to ancestors who founded Charlevoix for these 10 families go back to a cluster of 25 founders, one of whom must have been the carrier of the MD gene. The probative third argument for genetic homogeneity comes from the allellic distribution of the apolipoprotein E (ApoE) gene in the Québec City, Saguenay and in families with MD. The ApoE locus is on chromosome 19 and closely linked to MD. In MD-affected individuals there is a linkage disequilibrium for the e4 allelle while non-MD members of these families show allellic frequencies not differing significantly from the control population. This suggests that the gene that is carried by all MD patients (at least in Northeast Québec) came through a “founder effect” and was carried in -cis on the chromosome 19 of the first carrier. Consequences of this genie homogeneity in relation to studies of penetrance and phenotypic variation in clinical expressivity are discussed.
Cerebral Edema Associated with Meningioma
Authors: Lee Shih-Tseng , Hsueh Swei
Published: July 2016

Cerebral edema associated with meningiomas is a rather common phenomenon. A patient with a small meningioma presented with severe cerebral edema, out of proportion to the size of the tumor. During surgery the meningioma was removed and the adjacent edematous brain tissue biopsied. The histopathoiogical study showed conspicuous plasma cell and lymphocyte infiltration in both the tumor and the cerebral edematous tissue. The pathological findings are presented, and the possible mechanism for cerebral edema associated with meningioma is discussed.
Multiple Electrodes for Detecting Spikes in Partial Complex Seizures
Authors: Sadler R. Mark , Goodwin John
Published: July 2016

The contribution of various electroencephalographic electrodes in detecting spikes from patients with seizures of suspected anterior temporal origin was prospectively studied with a standard protocol. The following electrodes were studied: International Standard 10-20 positions F7-8 and A1-2, sphenoidal (SP), nasopharyngeal (NP), anterior temporal (Tl-2), mandibular notch surface (MNS), and mandibular notch subdermal (MNSD). Twenty patients were recorded of whom 16 demonstrated anterior temporal spikes. There was no difference in the number of spikes detected by SP, MNS, MNSD, or Tl-2 electrodes (p < 0.05); however these electrodes detected significantly more spikes than NP, F7-8, or A1-2. The SP electrode recorded spikes of highest amplitude (p < 0.05). We conclude that for patients suspected of having seizures of anterior temporal origin, (1) a substantial number of spikes will be missed if only the International Standard electrode system is employed; (2) in comparison to SP electrodes the noninvasive and easily applied MNS or Tl-2 electrodes will detect almost all spikes and should be used in outpatient EEG recordings; (3) NP electrodes provide no information that cannot be obtained by more reliable and better tolerated electrodes.
Cystic Schwannoma of the Brainstem
Authors: Ladouceur Denis , Bergeron Denis , Lamarche Jacques B. , Lamontagne Lucie
Published: July 2016

A rare case of cystic schwannoma occurring in the brainstem in the absence of von Recklinghausen's disease is reported. This appears to be the first case in the literature of a cystic schawnnoma ever described in this location. While the exact origin of this tumor in this unusual location remains uncertain, different hypotheses are discussed and the possible origin of this tumor from perivascular elements in the brainstem is seriously considered.
Alzheimer's Disease: Environmental Factors and Etiologic Hypotheses
Authors: Gautrin Denyse , Gauthier Serge
Published: July 2016

A review of published reports on conventional and unconventional viruses, aluminum, neurotoxic metals and trace elements, neurotoxins of biological origin and immune systems, suggest that environmental factors, possibly multiple ones, play a significant role in the etiology of Alzheimer's disease. A complex interaction between genetic predisposition to this illness, natural aging processes, environmental factors over a life-time exposure and pathological alterations of the host immune system is proposed.
Activities and Kinetic Properties of Lumbar Cerebrospinal Fluid Cholinesterases in Relation to Clinical Diagnosis, Severity, and Progression of Alzheimer's Disease
Authors: Huff F. Jacob , Reiter Clara T. , Protetch Jack
Published: July 2016

Acetylcholinesterase (AChE) and butyrylcholinesterase (BChE) activities of lumbar cerebrospinal fluid (CSF) have been measured in seventeen patients with a clinical diagnosis of probable Alzheimer's disease (Prob AD), possible Alzheimer's disease (Poss AD), or dementia of non-Alzheimer aetiology (Non-AD). The three diagnostic groups did not differ with regard to the Km or saturation kinetic properties of AChE and BChE. The CSF AChE activity was significantly higher in Prob AD than in Non-AD patients. The groups did not differ significantly in BChE activity. The ratio of AChE to BChE activity was significantly higher in both the Prob AD and Poss AD groups than in the Non-AD group, and the ranges of values in the Prob AD and Non-AD groups did not overlap. Among patients in the Prob AD group, severity of dementia was correlated with both AChE activity and the AChE/BChE ratio, and progression of dementia over time was also correlated with AChE/BChE.

The AChE/BChE ratio correlated more strongly than AChE with severity and progression of dementia in Prob AD patients, and also better distinguished them from Non-AD patients, suggesting that AChE/BChE may be the more useful marker for diagnosis of AD. It is not clear from the results whether AChE/BChE is useful for diagnosis of the complex dementia cases in the Poss AD group.
Altered Gene Expression in Alzheimer's Disease Brain Tissue
Authors: May Patrick C. , Johnson Steven A. , Poirier Judes , Lampert-Etchells Martha , Finch Caleb E.
Published: July 2016

We review the evidence for altered gene expression in Alzheimer's disease brain and identify alternative molecular approaches for isolating additional novel markers. One marker, pADHC-9, was isolated from a human hippocampal cDNA library by differential screening with AD and control cDNA probes. This clone hybridizes to a 2 Kb RNA which is increased 2 fold in AD hippocampus. The deduced amino acid sequence of pADHC-9 codes for a 52 kDAL protein similar to a testicular sulfated glycoprotein secreted by rat Sertoli cells. The normal function of this protein in brain and whether that function is altered in Alzheimer's disease is unknown.
A Reexamination of Aluminum in Alzheimer's Disease: Analysis by Energy Dispersive X-ray Microprobe and Flameless Atomic Absorption Spectrophotometry
Authors: Jacobs Roland W. , Duong Taihung , Jones Robert E. , Trapp George A. , Scheibel Arnold B.
Published: July 2016

We have attempted to verify the presence of increased aluminum (Al) levels in Alzheimer's disease (AD) brains by energy dispersive X-ray microanalysis (EDX) and flameless atomic absorption spectrophotometry (AAS). Tissue from seven AD brains, mounted on carbon polymerized coverslips, were stained with Congored or treated immunohistochemically to allow optical localization of AD-associated lesions during EDX. Despite a demonstrated sensitivity of 20-25 ppm, we were unable to detect Al in either plaque cores or neurons containing neurofibrillary tangles. For AAS, wet weight samples (ranging from 48-144 mg) from six of the seven AD brains and four controls were selected from regions similar to those studied under EDX, i.e., Brodmann areas 9, 11, 28, 46, 47, and the hippocampus. The tissue surrounding each sample site was sectioned and stained for thioflavin S. Both controls and AD samples revealed similar levels of Al ranging from undetectable to 1.80 ng/mg wet wt. (mean AD: 0.28 ± 0.39 (SD), control: 0.54 ± 0.58 (SD)), independent of degree of histopathology or age of the case. We conclude that the combined strengths of these two techniques on similar tissue specimens demonstrate that abnormal Al levels are not required to produce the histologic findings of AD and that this element may not accumulate in the aging brain. It is unlikely, therefore, that Al is essential in the etiology of pathogenesis of plaques and tangles in AD. Al's role as a primary or secondarily associated event, when present, needs further delineation.
Antibodies in Serum of Patients with Alzheimer's Disease Cause Immunolysis of Cholinergic Nerve Terminals from the Rat Cerebral Cortex
Authors: Bradford H.F. , Foley P. , Docherty M. , Fillit H. , Luine V.N. , McEwen B. , Bucht G. , Winbald B. , Hardy J.
Published: July 2016

A blind study showing that serum from patients with Alzheimer's disease causes immunolysis of mammalian brain synaptosomes is reported. Control, aged-matched, sera were largely without effect. The immunolysis was directed mainly against cholinergic synaptosomes. The data support the hypothesis that autoimmune mechanisms may operate in the pathogenesis of Alzheimer's disease.
18Fluorodeoxyglucose Positron Emission Tomography Studies in Presumed Alzheimer Cases, Including 13 Serial Scans
Authors: McGeer E.G. , Peppard R.P. , McGeer P.L. , Tuokko H. , Crockett D. , Parks R. , Akiyama H. , Calne D.B. , Beattie B.L. , Harrop R.
Published: July 2016

Positron emission tomographic (PET) data on local cerebral metabolic rates for glucose (LCMR) are reported for 32 regions of interest (ROI)s in cross-sectional studies on 57 patients with clinically diagnosed Alzheimer's disease (AD) and 20 neurologically normal controls, and in serial studies on 13 of the AD cases, including a familial, young-onset case where the diagnosis has been confirmed at autopsy. Extensive psychological testing was done on all the AD cases. Almost all cortical regions showed a significant decline in LCMR with age in the control subjects. There were the expected cortical metabolic deficits in AD and the serial studies showed a general increase in such deficits over time in 12 of the 13 cases. The regions showing the greatest declines with time in serial studies are the same as those showing the most severe deficiencies in cross-sectional studies. The young-onset case did not show a greater rate of metabolic decline than many of the older cases studied. Results on individual psychological tests tended to correlate with metabolic rates in multiple, rather than single, cortical regions, suggesting intact neuronal networks are required for good performance. The correlations with cortical metabolic activity found were of a sign indicating that the higher the metabolic rates and the better the left:right asymmetry index, the better was the performance.
Dibutyryl Cyclic AMP Induces Vimentin and GFAP Expression in Cultured Medulloblastoma Cells
Authors: Maria B.L. , Wong D. , Kalnins V.I.
Published: July 2016

Evidence for the astrocytic lineage in medulloblastomas rests largely on the detection of the glial fibrillary acidic protein (GFAP) from which intermediate filaments (IF) specific for astrocytes are assembled. Astrocyte progenitor cells from the mouse neopallium however express another IF protein, vimentin, before they acquire GFAP in vivo and in vitro. The purpose of the current study was to determine if cells obtained from a focally GFAP-positive posterior fossa medulloblastoma previously shown to acquire GFAP in response to dibutyryl cyclic AMP (dBcAMP), also express vimentin before expressing GFAP. More than 80% of cells in the tumor section contained vimentin while fewer than 1% of cells contained GFAP; occasional clusters of malignant GFAP-positive cells and clusters of cells negative for both vimentin and GFAP were also identified in the tumor. One hundred per cent of cultured cells in the first 10 passages from the tumor contained vimentin and no cells expressed GFAP. When cells were cultured in the presence of dBcAMP, Western immunoblotting showed an increase in vimentin which reached maximal values within 24 h followed by an increase in GFAP which reached maximal values at 72 h. The increase in vimentin followed by that of GFAP in cultured medulloblastoma cells has not previously been reported and suggests that most astrocyte progenitors which are derived from medulloblastoma and cultured in vitro may be at a developmental stage which corresponds to the proastroblast stage in the developing mouse brain. Most medulloblastoma cells in tumor sections in which vimentin is present but GFAP is absent may be in maturation arrest in vivo at the proastroblast stage of normal astrocyte development while vimentin and GFAP-negative islands of cells may represent astrocyte progenitor cells at an earlier stage of differentiation (e.g. glioblasts).
Phase II Study of Trimetrexate in Recurrent Anaplastic Glioma: National Cancer Institute of Canada Clinical Trials Group Study
Authors: Cairncross J. Gregory , Eisenhauer Elizabeth A. , Macdonald David R. , Rathbone Michel P. , Moore Malcolm J. , Sawka Carol A. , MacCormick Ronald E. , Kerr Ian G.
Published: July 2016

The National Cancer Institute of Canada Clinical Trials Group conducted a phase II trial of trimetrexate given in a daily × 5 intravenous bolus schedule every 3 weeks in patients with measurable recurrent anaplastic glioma and limited prior treatment. There were no responses in 14 evaluable patients. We conclude that trimetrexate, given as described, is not an active agent in this disease.
Late Pseudo-Exacerbation of Myasthenia Gravis Due to Ectopic Thymoma Invading Lower Cranial Nerves
Authors: MacLean Gregg , Guberman Alan , Giulivi Antonio
Published: July 2016

Dysarthria, dysphagia and repeated aspiration in a 54-year-old woman diagnosed and treated for myasthenia gravis 7 years earlier were initially thought to represent a late exacerbation of myasthenia. A cervical mass invading the jugular foramen and causing multiple lower cranial nerve palsies was biopsied and found to represent invasive ectopic thymoma.
Critical Appraisal of Experimental Radiation Modalities for Malignant Astrocytomas
Authors: Laperriere N.J.
Published: July 2016

The management of patients with supratentorial malignant astrocytomas has remained a major problem. Patients continue to die from a lack of local control in 90% of cases despite an improvement of median survival seen with the use of postoperative radiation therapy. Because of this, there has been considerable interest in exploring novel ways of possibly improving results. This paper reviews the rationale and clinical results with the use of altered fractionation schemes, brachytherapy, radiation sensitizers, hyperthermia, particle therapy, and radiosurgery in the treatment of these patients. Currently, there is no demonstrated advantage with the use of these experimental modalities in the initial management of patients. There would appear to be some benefit for selected patients who are treated with brachytherapy at recurrence, but its efficacy as part of initial management remains to be determined in ongoing randomized prospective trials.
Syncope in Childhood: A Case Control Clinical Study of the Familial Tendency to Faint
Authors: Camfield Peter R. , Camfield Carol S.
Published: July 2016

We investigated the possibility of an inherited tendency to faint by studying 30 consecutively referred well children with vasodepressor or vasovagal syncope. The family history of each patient was reviewed for syncope and for 24 cases was compared with the family history of the child's best friend. None of the best friends had syncope. 27/30 cases and 8/24 best friends had at least one first degree relative with syncope (p < 0.01). Of the 8 best friend controls with a parent or sibling with syncope, the mother was affected in 7; 4/7 of these mothers had first degree relative(s) with syncope. In 11/30 patients both a sibling and parent had syncope compared with 1/24 of control families (p < .01). We conclude that there is an inherited tendency to faint since most children who faint have a first degree relative who faints, a useful fact in differential diagnosis. This inherited tendency may be multifactorial but requires an environmental stimulus for expression.
Extracranial Repair of Cerebrospinal Fluid Rhinorrhea
Authors: Ross Ian B. , Colohan Austin R.T. , Black Martin J.
Published: July 2016

There has been a recent renewal of interest in the extracranial repair of cerebrospinal fluid rhinorrhea because of the relatively high morbidity associated with the transcranial approach. The authors describe an extracranial approach that involves packing of the sphenoid and ethmoid sinuses on the side of the CSF leak. A case of successful treatment of CSF rhinorrhea by this method is presented. The extracranial approach may be advantageous for the repair of CSF rhinorrhea and the authors advocate an increase in its utilization by neurosurgeons and otolaryngologists working as a team.
Immunohistochemistry of Ecchordosis Physaliphora and Chordoma
Authors: Macdonald R.L. , Deck J.H.N.
Published: July 2016

Immunohistochemical stains for cytokeratins, vimentin, epithelial membrane antigen, carcinoembryonic antigen and S-100 were performed on nine ecchordoses and 10 chordomas. 100% of the ecchordoses were positive for cytokeratin, vimentin and epithelial membrane antigen. 78% were S-100 positive. 100% of the chordomas stained positively for cytokeratin, vimentin and S-100 and 90% were positive for epithelial membrane antigen. No ecchordosis or chordoma was carcinoembryonic-antigen positive. These findings are interesting for two reasons. First, the similar staining properties of chordoma and ecchordosis physaliphora support the embryologic hypothesis of their common origin from the fetal notochord. Second, they indicate that when an ecchordosis causes symptoms prompting surgical resection, differentiation of the lesion from chordoma with routine immunohistochemistry would not be helpful.
Hemifacial Spasm and Craniovertebral Anomaly
Authors: Maroun F.B. , Jacob J.C. , Weir B.K.A. , Mangan M.A.
Published: July 2016

Two patients with congenital anomaly of the craniovertebral junction causing disabling hemifacial spasm (HFS) are presented. In one patient, complete cessation of the HFS occurred for a period of two years following simple bony decompression of the craniovertebral junction raising unanswered questions as to the exact pathogenesis of HFS. Eventually both patients required microvascular decompression at the root entry zone of the facial nerve.
A Comparison of the Efficacy and Tolerability of Controlled-Release Carbamazepine with Conventional Carbamazepine
Authors: Dhalla Z. , Bruni J. , Sutton J.
Published: July 2016

We compared the efficacy and tolerability of controlled-release carbamazepine (CBZ-CR) with conventional carbamazepine (CBZ) in 131 epileptic patients (both men and women, ages 6-65 years) in an open, multicentre, cross-over trial. Patients entered into the trial were previously on CBZ monotherapy or polytherapy. During the first 4 weeks, patients were treated with equivalent daily doses of CBZ and then switched to CBZ-CR for the subsequent 4 weeks. The majority of patients were switched to the more convenient b.i.d. dosing schedule of the controlled-release (CR) preparation without a detrimental effect on seizure frequency or adverse effects. In 44/131 (34%) of patients, the switch to CBZ-CR was accompanied by an improvement in tolerability, primarily due to a reduction in peak-dependent CNS side-effects such as tiredness, double or blurred vision, dizziness and ataxia. At the end of the study, investigators preferred CBZ-CR for 76% of their patients and 70% of the patients preferred CBZ-CR.
Environment, Genetics and Idiopathic Parkinson's Disease
Authors: Poirier Judes , Kogan Sandra , Gauthier Serge
Published: July 2016

Since Idiopathic Parkinson's disease (IPD) was first described more than 170 years ago, there have been major advances in the understanding of the etiology of the disease as well as in its treatment. This article will review current knowledge concerning the role of the environment, genetic hypotheses and the aging factor in the etiology of IPD and proposes a complex interaction involving all these factors. Hypotheses regarding mitochondrial inhibition and free radical generation in IPD are discussed in relation to the mechanism of action of neurotoxins known to produce parkinsonian syndromes.
National Conference on Parkinson's Disease
Authors: Rajput A.H. , Calne D. , Lang A.E.
Published: July 2016

A National Conference on Parkinson's disease was held on September 7th-8th, 1990 in Victoria, British Columbia. The scientific program included 11 formal presentations, 10 small group workshops and video presentations of interesting examples of movement disorders. The subjects discussed ranged from epidemiology and etiology to current and possible future modes of management of Parkinson's disease.
Abnormalities of Peripheral Nerve Conduction in Relation to Thiamine Status in Alcoholic Patients
Authors: L. D'Amour Monique , Bruneau Julie , Butterworth Roger F.
Published: July 2016

Thiamine status was evaluated using the erythrocyte transketolase activation assay in 20 alcoholic patients admitted on a voluntary basis to a Detoxification Unit. Electromyographic evaluation revealed significant reductions of motor and sensory conduction velocities in the alcoholic group. 38% of alcoholic patients had at least one abnormal peripheral nerve conduction parameter. Findings were consistent with an axonal type of neuropathy. 30% of alcoholic patients showed significant erythrocyte transketolase activation deficits indicative of severe thiamine deficiency. In the case of peroneal nerve, reduced conduction velocities were negatively correlated with abnormal transketolase parameters. These findings are consistent with a contributory (but not exclusive) role of thiamine deficiency in the pathogenesis of alcoholic peripheral neuropathy. Deficiencies of other vitamins as well as direct neurotoxic effects of alcohol could also be involved in this phenomenon.
Surgical Implications of Cerebral Dysgenesis
Authors: Cochrane D. Douglas , Poskitt K.J. , Norman M.G.
Published: July 2016

Cerebral dysgenesis encompasses varied disorders of brain development. Based on the understanding of these conditions provided by histopathologists, embryologists, radiologists and developmental pediatricians, surgeons are able to appropriately assist in the care of these patients. The surgeon can offer assessment of the ventriculomegaly that commonly accompanies cerebral dysgenesis in addition to providing methods to control hydrocephalus, to reconstruct cranial and facial malformations and to remove dysfunctional tissue. For most patients, surgical intervention is only one of the many factors that determine developmental prognosis. Based on the foundation built by other specialists, this review discusses cerebral dysgenesis from the perspective of historical and current surgical interventions.
Accuracy of Clinical Diagnosis in Parkinsonism — A Prospective Study
Authors: Rajput A.H. , Rozdilsky B. , Rajput Alex
Published: July 2016

Clinical diagnosis of Parkinson's syndrome (PS) is reasonably easy in most cases but the distinction between different variants of PS may be difficult in early cases. The correct diagnosis is not only important for counselling and management of patients but also in conducting pharmacological and epidemiological studies. There is very little critical literature on the pathological verification of the clinical diagnosis in PS. We report our 22 year experience to address that issue. Between 1968 and 1990, 65 PS patients came to autopsy. Complete data are available in 59 (M- 50, F-19) cases. The initial diagnosis made by a qualified neurologist was idiopathic Parkinson's disease (IPD) in 43 cases. Of those 28 (65%) had Lewy body pathology. After a mean duration of 12 years the final diagnosis was IPD in 41 cases which was confirmed in 31 (76%). The IPD could not be clinically distinguished from cases with severe substantia nigra neuronal loss without inclusions or from those with neurofibrillary tangle inclusions and neuronal loss at the anatomical sites typically involved in IPD. All progressive supra-nuclear palsy, olivopontocerebellar atrophy, Jakob-Creutzfeldt's disease and the majority of the multiple system atrophy cases were diagnosed correctly during life. The correct clinical diagnosis in most non-IPD variants of PS was possible within 5 years of onset (range: 2 months to 18 years). We recommend that studies aimed at including only the IPD cases restrict the enrollment to those cases that have had PS motor manifestations for five years or longer duration.
Dissociated Loss of Vibration, Joint Position and Discriminatory Tactile Senses in Disease of Spinal Cord and Brain
Authors: Ross R.T.
Published: July 2016

The clinical functions of the posterior columns of the spinal cord and the signs of disease of these structures have been debated for years. Todd in 1847 and Schiff in 1858 knew the functions of the posterior columns and 10 years later Brown-Sequard knew as well. Reynolds, Romberg, and Duchenne, each described a posterior column syndrome based on a disease in which the primary lesion was not in the posterior columns. In the last 150 years almost every white matter structure of the cord has been credited with serving the sensations that we now know are a function of the posterior columns. Vibration, joint position and movement as well as discriminatory touch each seem to be served by separate fibres of the posterior columns and medial lemniscus. There is evidence of this in cat and man. These sensations may be lost individually, totally, or in certain stereotyped combinations. Vibration or joint sense is commonly lost alone. When a discriminatory touch sensation is lost with one other sense, it is almost inevitably joint position sense. Absent discriminatory touch and vibration sense with normal joint position sense appears to be unknown. This functional separation continues into the thalamus. At the highest level there is no evidence that vibration sense has any conscious somatosensory cortical affiliation, while joint position and discriminatory touch senses definitely do.
Entrapment of an Accessory Superficial Peroneal Sensory Nerve
Authors: Rubin Michael , Menche David , Pitman Mark
Published: July 2016

A 29 year old man had an accessory branch of the superficial peroneal nerve which entered the foot by rostro-caudally traversing the lateral malleolus laterally. The nerve was entrapped by a fascial band, resulting in pain over the lateral malleolus and dorsum of foot. Symptoms resolved when the nerve was surgically released.
Inter-Observer Agreement in Assessing Comatose Children
Authors: Seshia Shashi S. , Yager Jerome Y. , Johnston Bruce , Haese Philip
Published: July 2016

Inter-observer agreement was evaluated for twelve items used in the neurological assessment of comatose children. Data were obtained prospectively on fifteen patients examined independently by two observers in a double-blind fashion. Observer variability was measured by using the Disagreement Rate and Kappa statistic. The Disagreement Rate ranged from 0.01 to 0.12 for all items. Values for Kappa statistic were generally in accordance with those for Disagreement Rate. The data suggest fair to almost perfect inter-observer agreement for the items used to assess comatose children in this study.
Clinical Correlates and Electroencephalographic Characteristics of Two Additional Patterns Related to 14 and 6 per Second Positive Spikes
Authors: Reiher J. , Carmant L.
Published: July 2016

Two additional patterns, minuscule 28 per second positive spikes and huge N-shape potentials, have been identified exclusively in the EEGs of patients with 14 and 6 per second positive spikes. They occur predominantly during drowsiness and light sleep, usually in children, seldom in young adults. Their presence adds little to the clinical relevance of positive spikes. Familiarization with the N-shape potentials — the commoner of the two patterns — is important, lest they are mistaken for interictal abnormalities of significance such as atypical spike-wave complexes.
Clival Chordoma Presenting with Acute Brain Stem Hemorrhage
Authors: Levi Allan D.O. , Kucharczyk Walter , Lang Arnold P. , Schutz Hart
Published: July 2016

The authors present a case of a 29-year-old man who developed rapidly progressive cranial nerve palsies and a right hemiparesis secondary to a pontine hemorrhage. The rare but correct diagnosis of a clival chordoma which had invaded the brain stem and subsequently hemorrhaged was based on computed tomography and magnetic resonance imaging. The diagnosis was confirmed at surgery when the patient underwent a successful operative decompression of tumor and clot from the pons via a sub-occipital craniotomy. This represents the first case of a clival chordoma to hemorrhage into the brain stem, which was diagnosed preoperatively and the patient survived.
Amyotrophic Lateral Sclerosis/Parkinsonism/Dementia: Clinico-Pathological Correlations Relevant to Guamanian ALS/PD
Authors: Hudson Arthur J.
Published: July 2016

In a recent report on the clinical and pathological features of Guamanian ALS/PD and post-encephalitic parkinsonism/ALS a number of similarities were described, notably in the distribution of neurofibrillary tangles throughout the nervous system. In this account additional pathological features which these disorders share (and which differ from classical ALS, Parkinson's and Alzheimer's diseases) are described. These include atrophy of the globus pallidus and the entire substantia nigra, viz. pars compacta and pars reticulata. Moreover, neither Lewy bodies nor senile plaques are features of the Guamanian and post-encephalitic disorders. The significance of these observations and their relationship, more generally, to parkinsonism, ALS and dementia are discussed.
Biochemistry and Genetics of Tay-Sachs Disease
Authors: Gravel Roy A. , Triggs-Raine Barbara L. , Mahuran Don J.
Published: July 2016

Tay-Sachs disease is one of the few neurodegenerative diseases of known cause. It results from mutations of theHEXAgene encoding the a subunit of β-hexosaminidase, producing a destructive ganglioside accumulation in lysosomes, principally in neurons. With the determination of the protein sequence of the α and β subunits, deduced from cDNA sequences, the complex pathway of subcellular and lysosomal processing of the enzyme has been determined. More recently, detailed knowledge of the gene structure has allowed the determination of specific mutations causing Tay-Sachs disease. The high incidence of the disease in Ashkenazi Jews is attributed predominantly to three mutations present in high frequency, while in non-Jews some two dozen mutations have been identified thus far. The cataloguing of mutations has important implications for carrier screening and prenatal diagnosis for Tay-Sachs disease.
β-Amyloid Protein in Alzheimer's Disease
Authors: Nalbantoglu Josephine
Published: July 2016

β-amyloid protein, a 42-43 amino acid polypeptide, accumulates abnormally in senile plaques and the cerebral vasculature in Alzheimer's disease. This polypeptide is derived from a membrane-associated precursor which has several isoforms expressed in many tissues. The precursor protein is processed constitutively within the P-amyloid domain, leading to the release of the large β-terminal portion into the extracellular medium, β-amyloid protein may be toxic to certain neuronal cell types and its early deposition may be an important event in the pathogenesis of Alzheimer's disease.
Hereditary Canine Spinal Muscular Atrophy: An Animal Model of Motor Neuron Disease
Authors: Cork Linda C.
Published: July 2016

Motor neuron diseases selectively produce degeneration and death of motor neurons; the pathogenesis of these disorders and the specificity for this population of neurons are unknown. Hereditary Canine Spinal Muscular Atrophy produces a lower motor neuron disease which is clinically and pathologically similar to human motor neuron disease: motor neurons dysfunction and degenerate. The canine model provides an opportunity to investigate early stages of disease when there are viable motor neurons still present and might be responsive to a variety of therapeutic interventions. The canine disease, like the human disease, is inherited as an autosomal dominant. The extensive canine pedigree of more than 200 characterized individuals permits genetic analysis using syntenic linkage techniques which may identify a marker for the canine trait and provide insights into homologous regions for study in human kindreds.
The Role of Axonal Transport in Neurodegenerative Disease Spread: A Meta-Analysis of Experimental and Clinical Poliomyelitis Compares with Amyotrophic Lateral Sclerosis
Authors: Brooks Benjamin Rix
Published: July 2016

ALS symptom spread results from local spread of the neuronal degeneration because contiguous areas are more quickly involved than non-contiguous areas. Local spread to contiguous areas of motor neuron dysfunction is faster at the brainstem, cervical and lumbar regions than spread to non-continguous areas. The time for caudal-rostral symptomatic spread of ALS to involve a distant region is a function of the distance of that region from the site of onset. The time for spread to the bulbar region is shorter following arm onset than leg onset. Spread to non-contiguous areas is faster within the spinal cord than from the spinal cord to the bulbar region. These kinetics are consistent with axonal transport of the etiological agent in a manner similar to spread of poliovirus in poliomyelitis patients. Spread from the bulbar region to the spinal cord, on the other hand, occurs faster than symptom spread from the limb region to the bulbar region in limb onset patients. This rapid limb involvement following bulbar onset is more dramatic in males compared with females. Females with leg onset, on the other hand, show more rapid involvement of the opposite leg, either arm or bulbar structures than males. Gender effects may determine the course of ALS depending on the original site of onset.
Development of Surgical Therapy of Epilepsy at the Montreal Neurological Institute
Authors: Feindel William
Published: July 2016

Wilder Penfield's development of surgical methods for treating focal cerebral seizures, beginning with his early work in Montreal in 1928, is reviewed. The reliance on seizure pattern and focal brain pathology was enormously enhanced by the advent of EEG and direct electrical recording from the cortex during surgery. The recognition in the early 1950's of mesial temporal structures in the pathogenesis of temporal lobe epilepsy with automatism lead to more rational and successful surgical treatment. Positron emission tomography and especially magnetic resonance imaging have recently added to the essential diagnostic information of focal epilepsy provided by EEG.
Preoperative Electroencephalographic Localization of Large Epileptogenic Zones in the Frontal and Temporal Lobes
Authors: Ajmone-Marsan Cosimo
Published: July 2016

The concept of epileptogenic zone is defined as a large area of cortical neurons arranged in concentric circles of variable degrees of epileptogenicity. This is particularly so in frontal lobe epilepsy since the interictal and ictal epileptic abnormalities are poorly localized, often absent and at times misleading in terms of localization. In temporal lobe epilepsy, the epileptogenic zones may be more restricted.
PET Scanning in Partial Epilepsy
Authors: Engel Jerome
Published: July 2016

Many biologically active tracers are available for positron emission tomography (PET) investigations, but most studies of epilepsy have utilized l8F-fluorodeoxyglucose (FDG) to measure local cerebral metabolic rate for glucose. Over 70% of patients with medically refractory partial seizures demonstrate an interictal zone of hypometabolism corresponding to the epileptogenic region. This metabolic defect commonly involves the temporal lobe in patients with complex partial seizures of mesial temporal origin, and is encountered less consistently with seizures of extratemporal neocortical origin. Although false localization is less likely with FDG-PET than with EEG, the hypometabolic zone merely reflects a focal functional deficit and its epileptogenicity must still be demonstrated electrophysiologically. When hemispherectomy or large multilobar resections are planned in small children, FDG-PET also provides useful supporting evidence that the contralateral hemisphere is functioning normally. It is difficult to obtain FDG-PET scans and to interpret results during spontaneous partial seizures. Ictal scans can be more easily obtained with single photon emission computed tomography (SPECT), which may provide information for planning surgical resections.
Surgery for Central, Parietal and Occipital Epilepsy
Authors: Rasmussen Theodore
Published: July 2016

Patients with epileptogenic lesions that are more or less restricted to the central, parietal or occipital regions represent 14% of our total epilepsy surgery series and consisted of 322 patients at the end of 1980. Tumoral or major vascular lesions were present in 117 patients (37%), but this report is limited to the remaining 203 patients (63%) with non-tumoral epileptogenic lesions. The presumed etiology was birth trauma or anoxia in 25%, postnatal brain trauma in 25%, and unknown in 24%, miscellaneous lesions were present in 16%, post-inflammatory gliosis or multiple factors were present in the remaining 10%. Follow-up data of 2-51 years' duration (median 18 years) are available for 186 of these 203 patients. Sixty-three patients (34%) remain seizure-free. Forty-two patients (23%) have a marked reduction of seizures. The remaining 81 patients (44%) have a lesser reduction. The variation in clinical seizure patterns is considerably greater than in temporal lobe epilepsy. Focal sensorimotor phenomena are common at the onset, whether the seizures begin in the central region or further posterior. The success following cortical resection is equally gratifying and the failures just as distressing as in surgery for epilepsy involving other brain regions.
A Clinical Classification of Hereditary Ataxias
Authors: Barbeau A. , Sadibelouiz M. , Sadibelouiz A. , Roy M.
Published: July 2016

We present a working and flexible classification of inherited ataxic syndromes based on the use of simple tools available to every clinician: a good history (particularly pinpointing the age of onset, the rate of progression and the mode of inheritance) and a neurological examination (identifying the presence of ataxia, deep tendon reflexes in the knee, optic nerve, retinal and/or 8th nerve signs). This classification is easily coded for computer translation on any personal computer. The place occupied by a given disorder may, by contiguity, give a clue to its pathophysiology.
Visual evoked potentials and brain stem auditory potentials in Friedreich's ataxia — A longitudinal study
Authors: Bogacz J. , Chouza C. , Romero S. , Bogacz A. , Correa H. , Barbeau A.
Published: July 2016

Six patients with Friedreich's ataxia, 4 males and 2 females, their ages ranging from 13 to 33 years, were studied. The early manifestations started between age 7 and 13 with an evolution time between 6 and 20 years. Serial visual and brain stem auditory evoked potential recordings were made. A progressive increase in latency, reduction in amplitude and in latency inter-ocular difference of PlOO were observed. The pattern of the reversal checker-board visual evoked potential was preserved. A disorganized BAEP pattern, a well defined potential I, a very small potential V and a delay in the interpeak latency were constant findings. The assumption is made of a progressive involvement of both visual and central auditory pathways. Pathophysiological mechanisms are discussed.
The cardiomyopathy in friedreich's ataxia: isotopic ventriculography and myocardial imaging with thallium-201
Authors: Therriault L. , Lamoureux G. , Côté M. , Plourde G. , Lemieux B.
Published: July 2016

Myocardial scanning after the intravenous administration of Thallium 201 was used to evaluate regional myocardial perfusion in 14 patients with Friedreich's ataxia. Isotopic ventriculography was also used to assess left ventricular contractility. Myocardial images in patients with Friedreich's ataxia were found to be precociously abnormal irrespective of the degree of neurological impairment or of the severity of myocardial hypertrophy.
Hair trace elements in Friedreich's disease
Authors: Barbeau A. , Roy M. , Paris S.
Published: July 2016

Concentrations of zinc, copper, manganese, chromium, cobalt and selenium were measured in the hair obtained from subjects with Friedreich’s disease, other inherited ataxias and neurological control patients. Althought zinc and copper concentrations were significantly higher in Friedreich than in the two control groups, the mean values for all groups were well within the normal range. No major deficiency in zinc or selenium was demonstrated in Friedreich’s disease using the approach. This does not, however, indicate that there is no defect in zinc and selenium metabolism, availability or transport in this disorder.
Zinc and taurine in Freidreich's ataxia
Authors: Shapcott D. , Giguère R. , Lemieux B.
Published: July 2016

Zinc and taurine were measured in urine in the fasting state and following a 4mg/kg load of taurine in subjects with Friedreich's Ataxia (FA), and healthy controls (C), and subjects with Duchenne type muscular dystrophy (MD). Of the FA, 25% had increased fasting excretion of zinc, and 50% had increased excretion of zinc following the taurine load. The MD subjects all had increased zinc excretion at all times. The increased zinc excretion did not correlate with increased excretion of taurine. As an index of zinc deficiency, uptake of zinc by erythrocytes was measured in all subjects and in heterozygotes for FA. The pattern of uptake was abnormal for FA and heterozygotes. Hair analysis for zinc showed that 10 of the 12 FA subjects had low values.

We conclude that significant abnormalities in zinc metabolism exist in some, but not all cases of FA. The evidence available does not permit definition of the cause of these abnormalities, whether zinc deficiency or abnormal zinc transport is the primary factor.
Friedreich's ataxia: malic enzyme activity in cellular fractions of cultured skin fibroblasts
Authors: Melançon S.B. , Cloutier R. , Potier M. , Dallaire L. , Vanasse M. , Geoffroy G. , Barbeau A.
Published: July 2016

We have measured the activity of malic enzyme NADP+ dependent in the nuclear, mitochondrial, lysosomal and cytosolic fractions of cultured skin fibroblasts from twelve patients with Friedreich's ataxia and nine control subjects. Hexosaminidase, cytochrome-C-oxidase, lactate dehydrogenase and malic enzyme NAD+ dependent were used as marker enzymes. The activity of malic enzyme NADP+ dependent was not significantly reduced in the mitochondrial fraction of patients with Friedreich's ataxia as compared with controls. When corrected for possible contamination between mitochondrial and cytosolic fractions, malic enzyme NADP+ dependent activity was still not significantly reduced in patients with Friedreich's ataxia. Unless critical methodological differences were overlooked in this or previously published studies, we conclude that mitochondrial malic enzyme deficiency is not the primary genetic defect underlying Friedreich's ataxia.
Nuclear Magnetic Resonance Imaging of Skull Base Lesions
Authors: Potts D.G. , Zimmerman R.D.
Published: July 2016

The basic principles of nuclear magnetic resonance (NMR) are reviewed and the appearances of some lesions of the skull base are discussed. NMR is a valuable diagnostic study for skull base lesions and it provides information that is not shown on the CT scan. The modern investigation of unusual skull base lesions should include both CT and NMR.
Neurologic Disorders Associated with Mitral Valve Prolapse
Authors: Jackson Alan C.
Published: July 2016

Mitral valve prolapse has been reported to be associated with a variety of neurologic disorders, including cerebral ischemia, transient global amnesia, migraine, autonomic dysfunction, and psychiatric disease. The evidence supporting these associations and possible pathogenetic mechanisms are discussed. Some neurologic disorders may be direct complications of mitral valve prolapse, while others may occur as part of an underlying genetic defect or common link.
Primary Lymphoma of the Central Nervous System: Manitoba Experience and Literature Review
Authors: Hobson Douglas E. , Anderson Brian A. , Carr Ian , West Michael
Published: July 2016

We describe eight cases of primary cerebral lymphoma seen in Manitoba from 1980 to 1985.

The clinical presentation is similar to other primary brain tumors. The diagnosis should be considered when single or multiple, often deep lesions, show dense enhancement on computerized tomographic (CT) scan, but are avascular at angiography. These tumors are histologically indistinguishable from non-Hodgkins lymphomas arising outside the CNS.

The prognosis is poor. However, radiotherapy with or without surgery may offer significant palliation. Although there is no consensus on the value of chemotherapy, corticosteroids alone or multiagent chemotherapy have shown promise in a few cases. For these reasons, histologic diagnosis should be sought in all cases and surgery, radiotherapy, and chemotherapy should be considered, as prolonged survival is possible.
Dorsal Midbrain Syndrome in Multiple Sclerosis with Magnetic Resonance Imaging Correlation
Authors: Costantino A. , Black S.E. , Carr T. , Nicholson R.L. , Noseworthy J.H.
Published: July 2016

We describe the clinical characteristics and a series of magnetic resonance imaging (MRI) studies in a patient with the features of dorsal midbrain syndrome occurring in the setting of multiple sclerosis. A T2-weighted MRI study revealed a discrete abnormality in the tectum of the midbrain whereas a high volume delayed computed tomography (CT) scan was uninformative. In parallel with remission of the clinical findings, the MRI abnormality diminished over time and was no longer visible at one year suggesting that some MRI detected MS lesions can completely disappear with time. This report demonstrates the use of MRI to detect and to follow sequentially sites of known disease activity in MS.
Seizures Associated with Spontaneous Subarachnoid Hemorrhage
Authors: Sundaram M.B.M. , Chow F.
Published: July 2016

We analysed the charts of 131 consecutive cases of spontaneous subarachnoid hemorrhage — without arteriovenous malformations — for seizures. Convulsions occurred in 31 patients (24%) and most often within 24 hours of bleeding. Motor manifestations of partial seizures were of no lateralizing value to aneurysm site. Early mortality, rebleeding and intracerebral hematoma were similar in both seizure and non-seizure groups. Late seizures were infrequent in survivors who had suffered seizures in the acute stage — thus questioning the necessity for routine, long term prophylactic anticonvulsants in these patients.